STBT5:Myxoinflammatory fibroblastic sarcoma - Revision history

Mokhtar.Abdelhammed at 17:02, 8 March 2026

2026-03-08T17:02:17Z

← Older revision		Revision as of 12:02, 8 March 2026
Line 38:		Line 38:

	==Gene Rearrangements==		==Gene Rearrangements==
	''BRAF'' gene fusions are identified in approximately 33% of myxoinflammatory fibroblastic sarcoma (MIFS) cases.<ref name=":0">{{Cite journal\|last=Hirose\|first=Takeshi\|last2=Chang\|first2=Hsin‐Yi\|last3=Saoud\|first3=Carla\|last4=Lefkowitz\|first4=Robert A.\|last5=Athanasian\|first5=Edward\|last6=Antonescu\|first6=Cristina R.\|date=2025-01\|title=A Clinicopathologic and Molecular Reappraisal of Myxoinflammatory Fibroblastic Sarcoma—A Controversial and Pathologically Challenging Low‐Grade Sarcoma\|url=https://onlinelibrary.wiley.com/doi/10.1002/gcc.70018\|journal=Genes, Chromosomes and Cancer\|language=en\|volume=64\|issue=1\|doi=10.1002/gcc.70018\|issn=1045-2257}}</ref><ref name=":1">{{Cite journal\|last=Kao\|first=Yu-Chien\|last2=Ranucci\|first2=Valentina\|last3=Zhang\|first3=Lei\|last4=Sung\|first4=Yun-Shao\|last5=Athanasian\|first5=Edward A.\|last6=Swanson\|first6=David\|last7=Dickson\|first7=Brendan C.\|last8=Antonescu\|first8=Cristina R.\|date=2017-11\|title=Recurrent BRAF Gene Rearrangements in Myxoinflammatory Fibroblastic Sarcomas, but Not Hemosiderotic Fibrolipomatous Tumors\|url=https://journals.lww.com/00000478-201711000-00002\|journal=American Journal of Surgical Pathology\|language=en\|volume=41\|issue=11\|pages=1456–1465\|doi=10.1097/PAS.0000000000000899\|issn=0147-5185}}</ref><ref name=":2">{{Cite journal\|last=Klubíčková\|first=Natálie\|last2=Agaimy\|first2=Abbas\|last3=Hájková\|first3=Veronika\|last4=Ptáková\|first4=Nikola\|last5=Grossmann\|first5=Petr\|last6=Šteiner\|first6=Petr\|last7=Michal\|first7=Michal\|last8=Michal\|first8=Michael\|date=2022-10\|title=RNA-sequencing of myxoinflammatory fibroblastic sarcomas reveals a novel SND1::BRAF fusion and 3 different molecular aberrations with the potential to upregulate the TEAD1 gene including SEC23IP::VGLL3 and TEAD1::MRTFB gene fusions\|url=https://link.springer.com/10.1007/s00428-022-03368-7\|journal=Virchows Archiv\|language=en\|volume=481\|issue=4\|pages=613–620\|doi=10.1007/s00428-022-03368-7\|issn=0945-6317}}</ref><ref name=":3">{{Cite journal\|last=Suster\|first=David\|last2=Michal\|first2=Michael\|last3=Huang\|first3=Huiya\|last4=Ronen\|first4=Shira\|last5=Springborn\|first5=Stephanie\|last6=Debiec-Rychter\|first6=Maria\|last7=Billings\|first7=Steven D.\|last8=Goldblum\|first8=John R.\|last9=Rubin\|first9=Brian P.\|date=2020-12\|title=Myxoinflammatory fibroblastic sarcoma: an immunohistochemical and molecular genetic study of 73 cases\|url=https://linkinghub.elsevier.com/retrieve/pii/S0893395222004227\|journal=Modern Pathology\|language=en\|volume=33\|issue=12\|pages=2520–2533\|doi=10.1038/s41379-020-0580-6}}</ref><ref name=":4">{{Cite journal\|last=Harnisch\|first=Kim\|last2=Bode\|first2=Beata\|last3=Chijioke\|first3=Obinna\|last4=Hench\|first4=Ivana Bratic\|last5=Kazakov\|first5=Dmitry V.\|date=2025-12\|title=Myxoinflammatory Fibroblastic Sarcoma, Nodular-Necrotizing Variant With Two YAP1::MAML2 Fusions and TRIM24::BRAF Fusion\|url=https://journals.lww.com/10.1097/DAD.0000000000003107\|journal=The American Journal of Dermatopathology\|language=en\|volume=47\|issue=12\|pages=976–978\|doi=10.1097/DAD.0000000000003107\|issn=0193-1091}}</ref><ref name=":5">{{Cite journal\|last=Arbajian\|first=Elsa\|last2=Hofvander\|first2=Jakob\|last3=Magnusson\|first3=Linda\|last4=Mertens\|first4=Fredrik\|date=2020-05\|title=Deep sequencing of myxoinflammatory fibroblastic sarcoma\|url=https://onlinelibrary.wiley.com/doi/10.1002/gcc.22832\|journal=Genes, Chromosomes and Cancer\|language=en\|volume=59\|issue=5\|pages=309–317\|doi=10.1002/gcc.22832\|issn=1045-2257}}</ref> Multiple fusion partners have been described, including ''TOM1L2, SND1, ZNF335, TRIM24'', and ''ROBO1''. In addition, ''TGFBR3-OGA (MGEA5)'' rearrangements, resulting from the t(1;10)(p22;q24) translocation, are detected in approximately 32% of cases.<ref name=":0" /><ref name=":5" /><ref name=":6">{{Cite journal\|last=Lambert\|first=Isabelle\|last2=Debiec-Rychter\|first2=Maria\|last3=Guelinckx\|first3=Paul\|last4=Hagemeijer\|first4=Anne\|last5=Sciot\|first5=Raf\|date=2001-05\|title=Acral myxoinflammatory fibroblastic sarcoma with unique clonal chromosomal changes\|url=http://link.springer.com/10.1007/s004280000376\|journal=Virchows Archiv\|language=en\|volume=438\|issue=5\|pages=509–512\|doi=10.1007/s004280000376\|issn=0945-6317}}</ref><ref name=":7">{{Cite journal\|last=Hallor\|first=Karolin H\|last2=Sciot\|first2=Raf\|last3=Staaf\|first3=Johan\|last4=Heidenblad\|first4=Markus\|last5=Rydholm\|first5=Anders\|last6=Bauer\|first6=Henrik CF\|last7=Åström\|first7=Kristina\|last8=Domanski\|first8=Henryk A\|last9=Meis\|first9=Jeanne M\|date=2009-04\|title=Two genetic pathways, t(1;10) and amplification of 3p11–12, in myxoinflammatory fibroblastic sarcoma, haemosiderotic fibrolipomatous tumour, and morphologically similar lesions\|url=https://pathsocjournals.onlinelibrary.wiley.com/doi/10.1002/path.2513\|journal=The Journal of Pathology\|language=en\|volume=217\|issue=5\|pages=716–727\|doi=10.1002/path.2513\|issn=0022-3417}}</ref><ref name=":8">{{Cite journal\|last=Liu\|first=Huifei\|last2=Sukov\|first2=William R.\|last3=Ro\|first3=Jae Y.\|date=2019-02-01\|title=The t(1;10)(p22;q24) TGFBR3/MGEA5 Translocation in Pleomorphic Hyalinizing Angiectatic Tumor, Myxoinflammatory Fibroblastic Sarcoma, and Hemosiderotic Fibrolipomatous Tumor\|url=https://aplm.kglmeridian.com/view/journals/arpa/143/2/article-p212.xml\|journal=Archives of Pathology & Laboratory Medicine\|language=en\|volume=143\|issue=2\|pages=212–221\|doi=10.5858/arpa.2017-0412-RA\|issn=0003-9985}}</ref><ref name=":9">{{Cite journal\|last=Antonescu\|first=Cristina R.\|last2=Zhang\|first2=Lei\|last3=Nielsen\|first3=G.Petur\|last4=Rosenberg\|first4=Andrew E.\|last5=Cin\|first5=Paola Dal\|last6=Fletcher\|first6=Christopher D. M.\|date=2011-10\|title=Consistent t(1;10) with rearrangements of TGFBR3 and MGEA5 in both myxoinflammatory fibroblastic sarcoma and hemosiderotic fibrolipomatous tumor\|url=https://onlinelibrary.wiley.com/doi/10.1002/gcc.20897\|journal=Genes, Chromosomes and Cancer\|language=en\|volume=50\|issue=10\|pages=757–764\|doi=10.1002/gcc.20897\|issn=1045-2257}}</ref><ref name=":10">{{Cite journal\|last=Boland\|first=Jennifer M.\|last2=Folpe\|first2=Andrew L.\|date=2017-09\|title=Hemosiderotic Fibrolipomatous Tumor, Pleomorphic Hyalinizing Angiectatic Tumor, and Myxoinflammatory Fibroblastic Sarcoma: Related or Not?\|url=https://journals.lww.com/00125480-201709000-00004\|journal=Advances in Anatomic Pathology\|language=en\|volume=24\|issue=5\|pages=268–277\|doi=10.1097/PAP.0000000000000151\|issn=1072-4109}}</ref><ref name=":11">{{Cite journal\|last=Elco\|first=Christopher P.\|last2=Mariño-Enríquez\|first2=Adrián\|last3=Abraham\|first3=John A.\|last4=Cin\|first4=Paola Dal\|last5=Hornick\|first5=Jason L.\|date=2010-11\|title=Hybrid Myxoinflammatory Fibroblastic Sarcoma/Hemosiderotic Fibrolipomatous Tumor: Report of a Case Providing Further Evidence for a Pathogenetic Link\|url=https://journals.lww.com/00000478-201011000-00021\|journal=American Journal of Surgical Pathology\|language=en\|volume=34\|issue=11\|pages=1723–1727\|doi=10.1097/PAS.0b013e3181f17d51\|issn=0147-5185}}</ref><ref name=":12">{{Cite journal\|last=Zreik\|first=Riyam T.\|last2=Carter\|first2=Jodi M.\|last3=Sukov\|first3=William R.\|last4=Ahrens\|first4=William A.\|last5=Fritchie\|first5=Karen J.\|last6=Montgomery\|first6=Elizabeth A.\|last7=Weiss\|first7=Sharon W.\|last8=Folpe\|first8=Andrew L.\|date=2016-07\|title=TGFBR3 and MGEA5 rearrangements are much more common in “hybrid” hemosiderotic fibrolipomatous tumor-myxoinflammatory fibroblastic sarcomas than in classical myxoinflammatory fibroblastic sarcomas: a morphological and fluorescence in situ hybridization study\|url=https://linkinghub.elsevier.com/retrieve/pii/S0046817716000678\|journal=Human Pathology\|language=en\|volume=53\|pages=14–24\|doi=10.1016/j.humpath.2016.02.005}}</ref><ref name=":13">{{Cite journal\|last=Carter\|first=Jodi M.\|last2=Sukov\|first2=William R.\|last3=Montgomery\|first3=Elizabeth\|last4=Goldblum\|first4=John R.\|last5=Billings\|first5=Steven D.\|last6=Fritchie\|first6=Karen J.\|last7=Folpe\|first7=Andrew L.\|date=2014-09\|title=TGFBR3 and MGEA5 Rearrangements in Pleomorphic Hyalinizing Angiectatic Tumors and the Spectrum of Related Neoplasms\|url=https://journals.lww.com/00000478-201409000-00003\|journal=American Journal of Surgical Pathology\|language=en\|volume=38\|issue=9\|pages=1182–1992\|doi=10.1097/PAS.0000000000000212\|issn=0147-5185}}</ref> ''YAP1::MAML2'' fusions are characteristic of the “nodular necrotizing” variant of MIFS and can co-exist with BRAF fusions.<ref name=":0" /><ref name=":14">{{Cite journal\|last=Perret\|first=Raul\|last2=Tallegas\|first2=Matthias\|last3=Velasco\|first3=Valérie\|last4=Soubeyran\|first4=Isabelle\|last5=Coindre\|first5=Jean-Michel\|last6=Azmani\|first6=Rihab\|last7=Baud\|first7=Jessica\|last8=Bacle\|first8=Guillaume\|last9=De Pinieux\|first9=Gonzague\|date=2022-10\|title=Recurrent YAP1::MAML2 fusions in “nodular necrotizing” variants of myxoinflammatory fibroblastic sarcoma: a comprehensive study of 7 cases\|url=https://linkinghub.elsevier.com/retrieve/pii/S089339522200254X\|journal=Modern Pathology\|language=en\|volume=35\|issue=10\|pages=1398–1404\|doi=10.1038/s41379-022-01096-6}}</ref><ref name=":15">{{Cite journal\|last=Harnisch\|first=Kim\|last2=Bode\|first2=Beata\|last3=Chijioke\|first3=Obinna\|last4=Hench\|first4=Ivana Bratic\|last5=Kazakov\|first5=Dmitry V.\|date=2025-12\|title=Myxoinflammatory Fibroblastic Sarcoma, Nodular-Necrotizing Variant With Two YAP1::MAML2 Fusions and TRIM24::BRAF Fusion\|url=https://journals.lww.com/10.1097/DAD.0000000000003107\|journal=The American Journal of Dermatopathology\|language=en\|volume=47\|issue=12\|pages=976–978\|doi=10.1097/DAD.0000000000003107\|issn=0193-1091}}</ref> More recently, several novel fusions have been described, including ''RRAGB::CCNB3, FGFR1::ZBTB47, SEC23IP::VGLL3'', and ''TEAD1::MRTFB''.<ref name=":0" /><ref name=":2" />		''BRAF'' gene fusions are identified in approximately 33% of myxoinflammatory fibroblastic sarcoma (MIFS) cases.<ref name=":0">{{Cite journal\|last=Hirose\|first=Takeshi\|last2=Chang\|first2=Hsin‐Yi\|last3=Saoud\|first3=Carla\|last4=Lefkowitz\|first4=Robert A.\|last5=Athanasian\|first5=Edward\|last6=Antonescu\|first6=Cristina R.\|date=2025-01\|title=A Clinicopathologic and Molecular Reappraisal of Myxoinflammatory Fibroblastic Sarcoma—A Controversial and Pathologically Challenging Low‐Grade Sarcoma\|url=https://onlinelibrary.wiley.com/doi/10.1002/gcc.70018\|journal=Genes, Chromosomes and Cancer\|language=en\|volume=64\|issue=1\|doi=10.1002/gcc.70018\|issn=1045-2257}}</ref><ref name=":1">{{Cite journal\|last=Kao\|first=Yu-Chien\|last2=Ranucci\|first2=Valentina\|last3=Zhang\|first3=Lei\|last4=Sung\|first4=Yun-Shao\|last5=Athanasian\|first5=Edward A.\|last6=Swanson\|first6=David\|last7=Dickson\|first7=Brendan C.\|last8=Antonescu\|first8=Cristina R.\|date=2017-11\|title=Recurrent BRAF Gene Rearrangements in Myxoinflammatory Fibroblastic Sarcomas, but Not Hemosiderotic Fibrolipomatous Tumors\|url=https://journals.lww.com/00000478-201711000-00002\|journal=American Journal of Surgical Pathology\|language=en\|volume=41\|issue=11\|pages=1456–1465\|doi=10.1097/PAS.0000000000000899\|issn=0147-5185}}</ref><ref name=":2">{{Cite journal\|last=Klubíčková\|first=Natálie\|last2=Agaimy\|first2=Abbas\|last3=Hájková\|first3=Veronika\|last4=Ptáková\|first4=Nikola\|last5=Grossmann\|first5=Petr\|last6=Šteiner\|first6=Petr\|last7=Michal\|first7=Michal\|last8=Michal\|first8=Michael\|date=2022-10\|title=RNA-sequencing of myxoinflammatory fibroblastic sarcomas reveals a novel SND1::BRAF fusion and 3 different molecular aberrations with the potential to upregulate the TEAD1 gene including SEC23IP::VGLL3 and TEAD1::MRTFB gene fusions\|url=https://link.springer.com/10.1007/s00428-022-03368-7\|journal=Virchows Archiv\|language=en\|volume=481\|issue=4\|pages=613–620\|doi=10.1007/s00428-022-03368-7\|issn=0945-6317}}</ref><ref name=":3">{{Cite journal\|last=Suster\|first=David\|last2=Michal\|first2=Michael\|last3=Huang\|first3=Huiya\|last4=Ronen\|first4=Shira\|last5=Springborn\|first5=Stephanie\|last6=Debiec-Rychter\|first6=Maria\|last7=Billings\|first7=Steven D.\|last8=Goldblum\|first8=John R.\|last9=Rubin\|first9=Brian P.\|date=2020-12\|title=Myxoinflammatory fibroblastic sarcoma: an immunohistochemical and molecular genetic study of 73 cases\|url=https://linkinghub.elsevier.com/retrieve/pii/S0893395222004227\|journal=Modern Pathology\|language=en\|volume=33\|issue=12\|pages=2520–2533\|doi=10.1038/s41379-020-0580-6}}</ref><ref name=":4">{{Cite journal\|last=Harnisch\|first=Kim\|last2=Bode\|first2=Beata\|last3=Chijioke\|first3=Obinna\|last4=Hench\|first4=Ivana Bratic\|last5=Kazakov\|first5=Dmitry V.\|date=2025-12\|title=Myxoinflammatory Fibroblastic Sarcoma, Nodular-Necrotizing Variant With Two YAP1::MAML2 Fusions and TRIM24::BRAF Fusion\|url=https://journals.lww.com/10.1097/DAD.0000000000003107\|journal=The American Journal of Dermatopathology\|language=en\|volume=47\|issue=12\|pages=976–978\|doi=10.1097/DAD.0000000000003107\|issn=0193-1091}}</ref><ref name=":5">{{Cite journal\|last=Arbajian\|first=Elsa\|last2=Hofvander\|first2=Jakob\|last3=Magnusson\|first3=Linda\|last4=Mertens\|first4=Fredrik\|date=2020-05\|title=Deep sequencing of myxoinflammatory fibroblastic sarcoma\|url=https://onlinelibrary.wiley.com/doi/10.1002/gcc.22832\|journal=Genes, Chromosomes and Cancer\|language=en\|volume=59\|issue=5\|pages=309–317\|doi=10.1002/gcc.22832\|issn=1045-2257}}</ref> Multiple fusion partners have been described, including ''TOM1L2, SND1, ZNF335, TRIM24'', and ''ROBO1''. In addition, ''TGFBR3-OGA (MGEA5)'' rearrangements, resulting from the t(1;10)(p22;q24) translocation, are detected in approximately 32% of cases.<ref name=":0" /><ref name=":5" /><ref name=":6">{{Cite journal\|last=Lambert\|first=Isabelle\|last2=Debiec-Rychter\|first2=Maria\|last3=Guelinckx\|first3=Paul\|last4=Hagemeijer\|first4=Anne\|last5=Sciot\|first5=Raf\|date=2001-05\|title=Acral myxoinflammatory fibroblastic sarcoma with unique clonal chromosomal changes\|url=http://link.springer.com/10.1007/s004280000376\|journal=Virchows Archiv\|language=en\|volume=438\|issue=5\|pages=509–512\|doi=10.1007/s004280000376\|issn=0945-6317}}</ref><ref name=":7">{{Cite journal\|last=Hallor\|first=Karolin H\|last2=Sciot\|first2=Raf\|last3=Staaf\|first3=Johan\|last4=Heidenblad\|first4=Markus\|last5=Rydholm\|first5=Anders\|last6=Bauer\|first6=Henrik CF\|last7=Åström\|first7=Kristina\|last8=Domanski\|first8=Henryk A\|last9=Meis\|first9=Jeanne M\|date=2009-04\|title=Two genetic pathways, t(1;10) and amplification of 3p11–12, in myxoinflammatory fibroblastic sarcoma, haemosiderotic fibrolipomatous tumour, and morphologically similar lesions\|url=https://pathsocjournals.onlinelibrary.wiley.com/doi/10.1002/path.2513\|journal=The Journal of Pathology\|language=en\|volume=217\|issue=5\|pages=716–727\|doi=10.1002/path.2513\|issn=0022-3417}}</ref><ref name=":8">{{Cite journal\|last=Liu\|first=Huifei\|last2=Sukov\|first2=William R.\|last3=Ro\|first3=Jae Y.\|date=2019-02-01\|title=The t(1;10)(p22;q24) TGFBR3/MGEA5 Translocation in Pleomorphic Hyalinizing Angiectatic Tumor, Myxoinflammatory Fibroblastic Sarcoma, and Hemosiderotic Fibrolipomatous Tumor\|url=https://aplm.kglmeridian.com/view/journals/arpa/143/2/article-p212.xml\|journal=Archives of Pathology & Laboratory Medicine\|language=en\|volume=143\|issue=2\|pages=212–221\|doi=10.5858/arpa.2017-0412-RA\|issn=0003-9985}}</ref><ref name=":9">{{Cite journal\|last=Antonescu\|first=Cristina R.\|last2=Zhang\|first2=Lei\|last3=Nielsen\|first3=G.Petur\|last4=Rosenberg\|first4=Andrew E.\|last5=Cin\|first5=Paola Dal\|last6=Fletcher\|first6=Christopher D. M.\|date=2011-10\|title=Consistent t(1;10) with rearrangements of TGFBR3 and MGEA5 in both myxoinflammatory fibroblastic sarcoma and hemosiderotic fibrolipomatous tumor\|url=https://onlinelibrary.wiley.com/doi/10.1002/gcc.20897\|journal=Genes, Chromosomes and Cancer\|language=en\|volume=50\|issue=10\|pages=757–764\|doi=10.1002/gcc.20897\|issn=1045-2257}}</ref><ref name=":10">{{Cite journal\|last=Boland\|first=Jennifer M.\|last2=Folpe\|first2=Andrew L.\|date=2017-09\|title=Hemosiderotic Fibrolipomatous Tumor, Pleomorphic Hyalinizing Angiectatic Tumor, and Myxoinflammatory Fibroblastic Sarcoma: Related or Not?\|url=https://journals.lww.com/00125480-201709000-00004\|journal=Advances in Anatomic Pathology\|language=en\|volume=24\|issue=5\|pages=268–277\|doi=10.1097/PAP.0000000000000151\|issn=1072-4109}}</ref><ref name=":11">{{Cite journal\|last=Elco\|first=Christopher P.\|last2=Mariño-Enríquez\|first2=Adrián\|last3=Abraham\|first3=John A.\|last4=Cin\|first4=Paola Dal\|last5=Hornick\|first5=Jason L.\|date=2010-11\|title=Hybrid Myxoinflammatory Fibroblastic Sarcoma/Hemosiderotic Fibrolipomatous Tumor: Report of a Case Providing Further Evidence for a Pathogenetic Link\|url=https://journals.lww.com/00000478-201011000-00021\|journal=American Journal of Surgical Pathology\|language=en\|volume=34\|issue=11\|pages=1723–1727\|doi=10.1097/PAS.0b013e3181f17d51\|issn=0147-5185}}</ref><ref name=":12">{{Cite journal\|last=Zreik\|first=Riyam T.\|last2=Carter\|first2=Jodi M.\|last3=Sukov\|first3=William R.\|last4=Ahrens\|first4=William A.\|last5=Fritchie\|first5=Karen J.\|last6=Montgomery\|first6=Elizabeth A.\|last7=Weiss\|first7=Sharon W.\|last8=Folpe\|first8=Andrew L.\|date=2016-07\|title=TGFBR3 and MGEA5 rearrangements are much more common in “hybrid” hemosiderotic fibrolipomatous tumor-myxoinflammatory fibroblastic sarcomas than in classical myxoinflammatory fibroblastic sarcomas: a morphological and fluorescence in situ hybridization study\|url=https://linkinghub.elsevier.com/retrieve/pii/S0046817716000678\|journal=Human Pathology\|language=en\|volume=53\|pages=14–24\|doi=10.1016/j.humpath.2016.02.005}}</ref><ref name=":13">{{Cite journal\|last=Carter\|first=Jodi M.\|last2=Sukov\|first2=William R.\|last3=Montgomery\|first3=Elizabeth\|last4=Goldblum\|first4=John R.\|last5=Billings\|first5=Steven D.\|last6=Fritchie\|first6=Karen J.\|last7=Folpe\|first7=Andrew L.\|date=2014-09\|title=TGFBR3 and MGEA5 Rearrangements in Pleomorphic Hyalinizing Angiectatic Tumors and the Spectrum of Related Neoplasms\|url=https://journals.lww.com/00000478-201409000-00003\|journal=American Journal of Surgical Pathology\|language=en\|volume=38\|issue=9\|pages=1182–1992\|doi=10.1097/PAS.0000000000000212\|issn=0147-5185}}</ref> ''YAP1::MAML2'' fusions are characteristic of the “nodular necrotizing” variant of MIFS and can co-exist with BRAF fusions.<ref name=":0" /><ref name=":14">{{Cite journal\|last=Perret\|first=Raul\|last2=Tallegas\|first2=Matthias\|last3=Velasco\|first3=Valérie\|last4=Soubeyran\|first4=Isabelle\|last5=Coindre\|first5=Jean-Michel\|last6=Azmani\|first6=Rihab\|last7=Baud\|first7=Jessica\|last8=Bacle\|first8=Guillaume\|last9=De Pinieux\|first9=Gonzague\|date=2022-10\|title=Recurrent YAP1::MAML2 fusions in “nodular necrotizing” variants of myxoinflammatory fibroblastic sarcoma: a comprehensive study of 7 cases\|url=https://linkinghub.elsevier.com/retrieve/pii/S089339522200254X\|journal=Modern Pathology\|language=en\|volume=35\|issue=10\|pages=1398–1404\|doi=10.1038/s41379-022-01096-6}}</ref> More recently, several novel fusions have been described, including ''RRAGB::CCNB3, FGFR1::ZBTB47, SEC23IP::VGLL3'', and ''TEAD1::MRTFB''.<ref name=":0" /><ref name=":2" />
	{\| class="wikitable sortable"		{\| class="wikitable sortable"
	\|-		\|-
Line 65:		Line 65:
	\|Recurrent in HFLT, PHAT, and subsets of MIFS; supports neoplastic nature<ref name=":9" /><ref name=":10" /><ref name=":11" /> Frequently identified in hybrid HFLT/MIFS lesions<ref name=":12" /><ref name=":13" />		\|Recurrent in HFLT, PHAT, and subsets of MIFS; supports neoplastic nature<ref name=":9" /><ref name=":10" /><ref name=":11" /> Frequently identified in hybrid HFLT/MIFS lesions<ref name=":12" /><ref name=":13" />
	\|-		\|-
	\|''YAP1''<ref name=":0" /><ref name=":14" /><ref name=":15" />		\|''YAP1''<ref name=":0" /><ref name=":4" /><ref name=":14" />
	\|''YAP1::MAML2''		\|''YAP1::MAML2''
	\|Activates transcriptional programs related to proliferation and survival (Hippo pathway dysregulation)		\|Activates transcriptional programs related to proliferation and survival (Hippo pathway dysregulation)
Line 73:		Line 73:


	Involving exon 6 of ''YAP1'' and exon 2 of ''MAML2''<ref name=":15" />		Involving exon 6 of ''YAP1'' and exon 2 of ''MAML2''<ref name=":4" />
	\|Recurrent in 7 cases		\|Recurrent in 7 cases
	\|D		\|D
	\|No		\|No
	\|Characteristic of nodular necrotizing MIFS<ref name=":15" />		\|Characteristic of nodular necrotizing MIFS<ref name=":4" />
	\|-		\|-
	\|''RRAGB''<ref name=":0" />		\|''RRAGB''<ref name=":0" />

Kathleen.Schieffer at 10:20, 4 March 2026

2026-03-04T10:20:23Z

← Older revision		Revision as of 05:20, 4 March 2026
Line 53:		Line 53:
	\|Recurrent (33%) <ref name=":0" /><ref name=":1" /><ref name=":2" /><ref name=":3" /><ref name=":4" /><ref name=":5" />		\|Recurrent (33%) <ref name=":0" /><ref name=":1" /><ref name=":2" /><ref name=":3" /><ref name=":4" /><ref name=":5" />
	\|D, T<ref name=":2" />		\|D, T<ref name=":2" />
	\|Yes, (WHO)		\|Yes (WHO)
	\|Potential sensitivity to MEK inhibitors<ref name=":2" />		\|Potential sensitivity to MEK inhibitors<ref name=":2" />
	\|-		\|-
	\|''TGFBR3''<ref name=":0" /><ref name=":5" /><ref name=":6" /><ref name=":7" /><ref name=":8" /><ref name=":9" /><ref name=":10" /><ref name=":11" /><ref name=":12" /><ref name=":13" />		\|''TGFBR3''<ref name=":0" /><ref name=":5" /><ref name=":6" /><ref name=":7" /><ref name=":8" /><ref name=":9" /><ref name=":10" /><ref name=":11" /><ref name=":12" /><ref name=":13" />
	\|''TGFBR3-OGA (MGEA5)''		\|''TGFBR3-OGA (MGEA5)''
	\|Translocation t(1;10) does not result in a fusion transcript ~~[6,8]~~ but results in transcriptional dysregulation related to breakpoint rearrangement; altered TGF-β signaling modulation and transcriptionally activated of nearby genes to ''OGA'' including ''FGF8'', ''NPM3 ''as a consequence of the rearrangement		\|Translocation t(1;10) does not result in a fusion transcript <ref name=":5" /><ref name=":7" /> but results in transcriptional dysregulation related to breakpoint rearrangement; altered TGF-β signaling modulation and transcriptionally activated of nearby genes to ''OGA'' including ''FGF8'', ''NPM3 ''as a consequence of the rearrangement
	\|Balanced or unbalanced t(1;10)(p22;q24); hybrid MIFS/ Haemosiderotic fibrohistiocytic lipomatous lesion (HFLT) with der(10)t(1;10)		\|Balanced or unbalanced t(1;10)(p22;q24); hybrid MIFS/ Haemosiderotic fibrohistiocytic lipomatous lesion (HFLT) with der(10)t(1;10)
	\|32% of pure MIFS<ref name=":0" />		\|32% of pure MIFS<ref name=":0" />
	\|D		\|D
	\|Yes, (WHO)		\|Yes (WHO)
	\|Recurrent in HFLT, PHAT, and subsets of MIFS; supports neoplastic nature<ref name=":9" /><ref name=":10" /><ref name=":11" /> Frequently identified in hybrid HFLT/MIFS lesions<ref name=":12" /><ref name=":13" />		\|Recurrent in HFLT, PHAT, and subsets of MIFS; supports neoplastic nature<ref name=":9" /><ref name=":10" /><ref name=":11" /> Frequently identified in hybrid HFLT/MIFS lesions<ref name=":12" /><ref name=":13" />
	\|-		\|-
Line 100:		Line 100:
	\|''SEC23IP::VGLL3''		\|''SEC23IP::VGLL3''
	\|Upregulation of TEAD-mediated transcription (Hippo pathway)		\|Upregulation of TEAD-mediated transcription (Hippo pathway)
	\|Involving exon 2 of ~~the~~ ''SEC23IP'' ~~gene~~ and exon 2 of ~~the~~ ''VGLL3'' ~~gene at chr10:121,658,471, and chr3:87,027,952~~		\|Involving exon 2 of ''SEC23IP'' and exon 2 of ''VGLL3''
	\|Rare, 2 cases		\|Rare, 2 cases
	\|D		\|D
Line 109:		Line 109:
	\|''TEAD1::MRTFB''		\|''TEAD1::MRTFB''
	\|TEAD pathway activation		\|TEAD pathway activation
	\|Involving exon 9 of ~~the~~ ''TEAD1'' ~~gene~~ and exon 13 of ~~the~~ ''MRTFB'' ~~gene at chr11:12,904,672, and chr16:14,342,783~~		\|Involving exon 9 of ''TEAD1'' and exon 13 of ''MRTFB''
	\|Rare, 1 case		\|Rare, 1 case
	\|D		\|D
Line 116:		Line 116:
	\|}		\|}
	==Individual Region Genomic Gain/Loss/LOH==		==Individual Region Genomic Gain/Loss/LOH==
	Chromosome 3 amplification involving ''VGLL3'' and ''CHMP2B'' ~~genes~~ is the most common genetic alteration in MIFS.<ref name=":0" /><ref name=":1" /><ref name=":5" /><ref name=":7" /><ref name=":9" />		Chromosome 3 amplification involving ''VGLL3'' and ''CHMP2B'' is the most common genetic alteration in MIFS.<ref name=":0" /><ref name=":1" /><ref name=":5" /><ref name=":7" /><ref name=":9" />
	{\| class="wikitable sortable"		{\| class="wikitable sortable"
	\|-		\|-
Line 129:		Line 129:
	\|''VGLL3, CHMP2B''		\|''VGLL3, CHMP2B''
	\|D, P		\|D, P
	\|Yes, (WHO)		\|Yes (WHO)
	\|Present in majority of MIFS; associated with increased recurrence and metastasis risk<ref name=":0" />		\|Present in majority of MIFS; associated with increased recurrence and metastasis risk<ref name=":0" />
	\|-		\|-
Line 209:		Line 209:
	==Genetic Diagnostic Testing Methods==		==Genetic Diagnostic Testing Methods==

	* '''Fluorescence In Situ Hybridization (FISH)'''		* '''Fluorescence ''In Situ'' Hybridization (FISH)'''
			** ''TGFBR3'' and ''OGA'' (''MGEA5'') rearrangement analysis using FISH using break-apart probes is the primary diagnostic tool for detecting the t(1;10)(p22;q24).
	# ''TGFBR3'' and ''OGA'' (''MGEA5'') rearrangement analysis using FISH using break-apart probes is the primary diagnostic tool for detecting the t(1;10)(p22;q24).		** ''VGLL3'' amplification can also be detected by FISH on chromosome 3p12.1.
	# ''VGLL3'' amplification can also be detected by FISH on chromosome 3p12.1.

	* '''Karyotyping'''		* '''Karyotyping'''
	** ~~Identify~~:		** Can identify:
	** t(1;10)(p22;q24)		*** t(1;10)(p22;q24)
	** Unbalanced der(10)t(1;10) chromosomes in hybrid MIFS/HFLT		*** Unbalanced der(10)t(1;10) chromosomes in hybrid MIFS/HFLT
	** Chromosome 3 with 3p11–12 amplification		*** Chromosome 3 with 3p11–12 amplification

	* '''RNA Sequencing'''		* '''RNA Sequencing'''

Mokhtar.Abdelhammed: /* Genetic Diagnostic Testing Methods */

2026-03-02T23:34:56Z

Genetic Diagnostic Testing Methods

← Older revision		Revision as of 18:34, 2 March 2026
Line 211:		Line 211:
	* '''Fluorescence In Situ Hybridization (FISH)'''		* '''Fluorescence In Situ Hybridization (FISH)'''

	# TGFBR3 and OGA (MGEA5) rearrangement analysis using FISH using break-apart probes is the primary diagnostic tool for detecting the t(1;10)(p22;q24).		# ''TGFBR3'' and ''OGA'' (''MGEA5'') rearrangement analysis using FISH using break-apart probes is the primary diagnostic tool for detecting the t(1;10)(p22;q24).
	# VGLL3 amplification can also be detected by FISH on chromosome 3p12.1.		# ''VGLL3'' amplification can also be detected by FISH on chromosome 3p12.1.

	* '''Karyotyping'''		* '''Karyotyping'''
Line 221:		Line 221:

	* '''RNA Sequencing'''		* '''RNA Sequencing'''
	** ''BRAF'' gene fusions with associated partners ''TOM1L2, SND1, ZNF335, TRIM24'', and ''ROBO1'' =		** ''BRAF'' gene fusions with associated partners ''TOM1L2, SND1, ZNF335, TRIM24'', and ''ROBO1''
	** ''YAP1::MAML2''		** ''YAP1::MAML2''
	** Other rare fusions ''RRAGB::CCNB3, FGFR1::ZBTB47, SEC23IP::VGLL3'', and ''TEAD1::MRTFB''		** Other rare fusions ''RRAGB::CCNB3, FGFR1::ZBTB47, SEC23IP::VGLL3'', and ''TEAD1::MRTFB''

Mokhtar.Abdelhammed at 23:33, 2 March 2026

2026-03-02T23:33:55Z

← Older revision		Revision as of 18:33, 2 March 2026
Line 1:		Line 1:
	{{DISPLAYTITLE:Myxoinflammatory fibroblastic sarcoma}}		{{DISPLAYTITLE:Myxoinflammatory fibroblastic sarcoma}}
	[[STBT5:Table_of_Contents\|Soft Tissue and Bone Tumours (Who Classification, 5th ed.)]]		[[STBT5:Table_of_Contents\|Soft Tissue and Bone Tumours (Who Classification, 5th ed.)]]

	~~{{Under Construction}}~~

	<span style="color:#0070C0">(''General Instructions – The focus of these pages is the clinically significant genetic alterations in each disease type. This is based on up-to-date knowledge from multiple resources such as PubMed and the WHO classification books. The CCGA is meant to be a supplemental resource to the WHO classification books; the CCGA captures in a continually updated wiki-stye manner the current genetics/genomics knowledge of each disease, which evolves more rapidly than books can be revised and published. If the same disease is described in multiple WHO classification books, the genetics-related information for that disease will be consolidated into a single main page that has this template (other pages would only contain a link to this main page). Use [https://www.genenames.org/ <u>HUGO-approved gene names and symbols</u>] (italicized when appropriate), [https://varnomen.hgvs.org/ <u>HGVS-based nomenclature for variants</u>], as well as generic names of drugs and testing platforms or assays if applicable. Please complete tables whenever possible and do not delete them (add N/A if not applicable in the table and delete the examples); to add (or move) a row or column in a table, click nearby within the table and select the > symbol that appears. Please do not delete or alter the section headings. The use of bullet points alongside short blocks of text rather than only large paragraphs is encouraged. Additional instructions below in italicized blue text should not be included in the final page content. Please also see'' </span><u>''[[Author_Instructions]]''</u><span style="color:#0070C0"> ''and [[Frequently Asked Questions (FAQs)\|<u>FAQs</u>]] as well as contact your [[Leadership\|<u>Associate Editor</u>]] or [mailto:CCGA@cancergenomics.org <u>Technical Support</u>].)''</span>
	==Primary Author(s)*==		==Primary Author(s)*==
	Mokhtar H. Abdelhammed, MD; Kathleen Schieffer, PhD		Mokhtar H. Abdelhammed, MD; Kathleen Schieffer, PhD

Mokhtar.Abdelhammed: Authorship of MIFS

2026-03-02T23:33:11Z

Authorship of MIFS

Show changes

Richard.Glen at 01:27, 26 February 2026

2026-02-26T01:27:38Z

← Older revision		Revision as of 20:27, 25 February 2026
Line 267:		Line 267:
	==References==		==References==
	(use the "Cite" icon at the top of the page) <span style="color:#0070C0">(''Instructions: Add each reference into the text above by clicking where you want to insert the reference, selecting the “Cite” icon at the top of the wiki page, and using the “Automatic” tab option to search by PMID to select the reference to insert. If a PMID is not available, such as for a book, please use the “Cite” icon, select “Manual” and then “Basic Form”, and include the entire reference. To insert the same reference again later in the page, select the “Cite” icon and “Re-use” to find the reference; DO NOT insert the same reference twice using the “Automatic” tab as it will be treated as two separate references. The reference list in this section will be automatically generated and sorted''</span><span style="color:#0070C0">''.''</span><span style="color:#0070C0">)</span>		(use the "Cite" icon at the top of the page) <span style="color:#0070C0">(''Instructions: Add each reference into the text above by clicking where you want to insert the reference, selecting the “Cite” icon at the top of the wiki page, and using the “Automatic” tab option to search by PMID to select the reference to insert. If a PMID is not available, such as for a book, please use the “Cite” icon, select “Manual” and then “Basic Form”, and include the entire reference. To insert the same reference again later in the page, select the “Cite” icon and “Re-use” to find the reference; DO NOT insert the same reference twice using the “Automatic” tab as it will be treated as two separate references. The reference list in this section will be automatically generated and sorted''</span><span style="color:#0070C0">''.''</span><span style="color:#0070C0">)</span>
			<references />

	==Notes==		==Notes==
	<nowiki>*</nowiki>Primary authors will typically be those that initially create and complete the content of a page. If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the [[Leadership\|''<u>Associate Editor</u>'']] or other CCGA representative. When pages have a major update, the new author will be acknowledged at the beginning of the page, and those who contributed previously will be acknowledged below as a prior author.		<nowiki>*</nowiki>Primary authors will typically be those that initially create and complete the content of a page. If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the [[Leadership\|''<u>Associate Editor</u>'']] or other CCGA representative. When pages have a major update, the new author will be acknowledged at the beginning of the page, and those who contributed previously will be acknowledged below as a prior author.

Bailey.Glen at 18:08, 3 July 2025

2025-07-03T18:08:07Z

← Older revision		Revision as of 13:08, 3 July 2025
Line 29:		Line 29:
	\|}		\|}

	~~==WHO Essential and Desirable Genetic Diagnostic Criteria==~~
	<span style="color:#0070C0">(''Instructions: The table will have the diagnostic criteria from the WHO book <u>autocompleted</u>; remove any <u>non</u>-genetics related criteria. If applicable, add text about other classification'' ''systems that define this entity and specify how the genetics-related criteria differ.'')</span>
	~~{\| class="wikitable"~~
	\|+
	\|WHO Essential Criteria (Genetics)*
	\|
	\|-
	\|WHO Desirable Criteria (Genetics)*
	\|
	\|-
	~~\|Other Classification~~
	\|
	\|}
	<nowiki>*</nowiki>Note: These are only the genetic/genomic criteria. Additional diagnostic criteria can be found in the [https://tumourclassification.iarc.who.int/home <u>WHO Classification of Tumours</u>].
	==Related Terminology==		==Related Terminology==

Bailey.Glen at 22:28, 25 May 2025

2025-05-25T22:28:29Z

← Older revision		Revision as of 17:28, 25 May 2025
Line 118:		Line 118:
	{\| class="wikitable sortable"		{\| class="wikitable sortable"
	\|-		\|-
	!Chr #!!~~'''~~Gain, Loss, Amp, LOH~~'''~~!!~~'''~~Minimal Region Cytoband and/or Genomic Coordinates [Genome Build; Size]~~'''~~!!~~'''~~Relevant Gene(s)~~'''~~		!Chr #!!Gain, Loss, Amp, LOH!!Minimal Region Cytoband and/or Genomic Coordinates [Genome Build; Size]!!Relevant Gene(s)
	!~~'''~~Diagnostic, Prognostic, and Therapeutic Significance - D, P, T~~'''~~		!Diagnostic, Prognostic, and Therapeutic Significance - D, P, T
	!~~'''~~Established Clinical Significance Per Guidelines - Yes or No (Source)~~'''~~		!Established Clinical Significance Per Guidelines - Yes or No (Source)
	!~~'''~~Clinical Relevance Details/Other Notes~~'''~~		!Clinical Relevance Details/Other Notes
	\|-		\|-
	\|<span class="blue-text">EXAMPLE:</span>		\|<span class="blue-text">EXAMPLE:</span>
Line 173:		Line 173:
	!Chromosomal Pattern		!Chromosomal Pattern
	!Molecular Pathogenesis		!Molecular Pathogenesis
	!~~'''~~Prevalence -~~'''~~		!Prevalence -
	~~'''~~Common >20%, Recurrent 5-20% or Rare <5% (Disease)~~'''~~		Common >20%, Recurrent 5-20% or Rare <5% (Disease)
	!~~'''~~Diagnostic, Prognostic, and Therapeutic Significance - D, P, T~~'''~~		!Diagnostic, Prognostic, and Therapeutic Significance - D, P, T
	!~~'''~~Established Clinical Significance Per Guidelines - Yes or No (Source)~~'''~~		!Established Clinical Significance Per Guidelines - Yes or No (Source)
	!~~'''~~Clinical Relevance Details/Other Notes~~'''~~		!Clinical Relevance Details/Other Notes
	\|-		\|-
	\|<span class="blue-text">EXAMPLE:</span>		\|<span class="blue-text">EXAMPLE:</span>
Line 206:		Line 206:
	{\| class="wikitable sortable"		{\| class="wikitable sortable"
	\|-		\|-
	!Gene!!~~'''~~Genetic Alteration~~'''~~!!~~'''~~Tumor Suppressor Gene, Oncogene, Other~~'''~~!!~~'''~~Prevalence -~~'''~~		!Gene!!Genetic Alteration!!Tumor Suppressor Gene, Oncogene, Other!!Prevalence -
	~~'''~~Common >20%, Recurrent 5-20% or Rare <5% (Disease)~~'''~~		Common >20%, Recurrent 5-20% or Rare <5% (Disease)
	!~~'''~~Diagnostic, Prognostic, and Therapeutic Significance - D, P, T ~~'''~~		!Diagnostic, Prognostic, and Therapeutic Significance - D, P, T
	!~~'''~~Established Clinical Significance Per Guidelines - Yes or No (Source)~~'''~~		!Established Clinical Significance Per Guidelines - Yes or No (Source)
	!~~'''~~Clinical Relevance Details/Other Notes~~'''~~		!Clinical Relevance Details/Other Notes
	\|-		\|-
	\|<span class="blue-text">EXAMPLE:</span>''EGFR''		\|<span class="blue-text">EXAMPLE:</span>''EGFR''

Bailey.Glen at 21:03, 25 May 2025

2025-05-25T21:03:56Z

← Older revision		Revision as of 16:03, 25 May 2025
Line 44:		Line 44:
	<nowiki>*</nowiki>Note: These are only the genetic/genomic criteria. Additional diagnostic criteria can be found in the [https://tumourclassification.iarc.who.int/home <u>WHO Classification of Tumours</u>].		<nowiki>*</nowiki>Note: These are only the genetic/genomic criteria. Additional diagnostic criteria can be found in the [https://tumourclassification.iarc.who.int/home <u>WHO Classification of Tumours</u>].
	==Related Terminology==		==Related Terminology==
	~~<span style="color:#0070C0">(''Instructions: The table will have the related terminology from the WHO <u>autocompleted</u>.)''</span>~~
	{\| class="wikitable"		{\| class="wikitable"
	\|+		\|+
	\|Acceptable		\|Acceptable
	\|		\|N/A
	\|-		\|-
	\|Not Recommended		\|Not Recommended
	\|		\|Inflammatory myxohyaline tumour of the distal extremities with virocyte-like or Reed–Sternberg–like cells; acral myxoinflammatory fibroblastic sarcoma; inflammatory myxoid tumour of the soft parts with bizarre giant cells
	\|}		\|}

Bailey.Glen: Created page with "{{DISPLAYTITLE:Myxoinflammatory fibroblastic sarcoma}} Soft Tissue and Bone Tumours (Who Classification, 5th ed.) {{Under Construction}}
2025-05-25T19:00:38Z

Created page with "{{DISPLAYTITLE:Myxoinflammatory fibroblastic sarcoma}} Soft Tissue and Bone Tumours (Who Classification, 5th ed.) {{Under Construction}} <span st..."

New page
{{DISPLAYTITLE:Myxoinflammatory fibroblastic sarcoma}}
[[STBT5:Table_of_Contents|Soft Tissue and Bone Tumours (Who Classification, 5th ed.)]]

{{Under Construction}}

(''General Instructions – The focus of these pages is the clinically significant genetic alterations in each disease type. This is based on up-to-date knowledge from multiple resources such as PubMed and the WHO classification books. The CCGA is meant to be a supplemental resource to the WHO classification books; the CCGA captures in a continually updated wiki-stye manner the current genetics/genomics knowledge of each disease, which evolves more rapidly than books can be revised and published. If the same disease is described in multiple WHO classification books, the genetics-related information for that disease will be consolidated into a single main page that has this template (other pages would only contain a link to this main page). Use [https://www.genenames.org/ HUGO-approved gene names and symbols] (italicized when appropriate), [https://varnomen.hgvs.org/ HGVS-based nomenclature for variants], as well as generic names of drugs and testing platforms or assays if applicable. Please complete tables whenever possible and do not delete them (add N/A if not applicable in the table and delete the examples); to add (or move) a row or column in a table, click nearby within the table and select the > symbol that appears. Please do not delete or alter the section headings. The use of bullet points alongside short blocks of text rather than only large paragraphs is encouraged. Additional instructions below in italicized blue text should not be included in the final page content. Please also see'' ''[[Author_Instructions]]'' ''and [[Frequently Asked Questions (FAQs)|FAQs]] as well as contact your [[Leadership|Associate Editor]] or [mailto:CCGA@cancergenomics.org Technical Support].)''
==Primary Author(s)==
Put your text here (''EXAMPLE:'' Jane Smith, PhD) 
==WHO Classification of Disease==

{| class="wikitable"
!Structure
!Disease
|-
|Book
|Soft Tissue and Bone Tumours (5th ed.)
|-
|Category
|Soft tissue tumours
|-
|Family
|Fibroblastic and myofibroblastic tumours
|-
|Type
|Myxoinflammatory fibroblastic sarcoma
|-
|Subtype(s)
|N/A
|}

==WHO Essential and Desirable Genetic Diagnostic Criteria==
(''Instructions: The table will have the diagnostic criteria from the WHO book autocompleted; remove any non-genetics related criteria. If applicable, add text about other classification'' ''systems that define this entity and specify how the genetics-related criteria differ.'')
{| class="wikitable"
|+
|WHO Essential Criteria (Genetics)
|
|-
|WHO Desirable Criteria (Genetics)*
|
|-
|Other Classification
|
|}
<nowiki></nowiki>Note: These are only the genetic/genomic criteria. Additional diagnostic criteria can be found in the [https://tumourclassification.iarc.who.int/home WHO Classification of Tumours].
==Related Terminology==
(''Instructions: The table will have the related terminology from the WHO autocompleted.)''
{| class="wikitable"
|+
|Acceptable
|
|-
|Not Recommended
|
|}

==Gene Rearrangements==
Put your text here and fill in the table (''Instructions: Details on clinical significance such as prognosis and other important information can be provided in the notes section. Please include references throughout the table. Do not delete the table.'')
{| class="wikitable sortable"
|-
!Driver Gene!!Fusion(s) and Common Partner Genes!!Molecular Pathogenesis!!Typical Chromosomal Alteration(s)
!Prevalence -Common >20%, Recurrent 5-20% or Rare <5% (Disease)
!Diagnostic, Prognostic, and Therapeutic Significance - D, P, T
!Established Clinical Significance Per Guidelines - Yes or No (Source)
!Clinical Relevance Details/Other Notes
|-
|EXAMPLE: ''ABL1''||EXAMPLE: ''BCR::ABL1''||EXAMPLE: The pathogenic derivative is the der(22) resulting in fusion of 5’ BCR and 3’ABL1.||EXAMPLE: t(9;22)(q34;q11.2)
|EXAMPLE: Common (CML)
|EXAMPLE: D, P, T
|EXAMPLE: Yes (WHO, NCCN)
|EXAMPLE:
The t(9;22) is diagnostic of CML in the appropriate morphology and clinical context (add reference). This fusion is responsive to targeted therapy such as Imatinib (Gleevec) (add reference). BCR::ABL1 is generally favorable in CML (add reference).
|-
|EXAMPLE: ''CIC''
|EXAMPLE: ''CIC::DUX4''
|EXAMPLE: Typically, the last exon of ''CIC'' is fused to ''DUX4''. The fusion breakpoint in ''CIC'' is usually intra-exonic and removes an inhibitory sequence, upregulating ''PEA3'' genes downstream of ''CIC'' including ''ETV1'', ''ETV4'', and ''ETV5''.
|EXAMPLE: t(4;19)(q25;q13)
|EXAMPLE: Common (CIC-rearranged sarcoma)
|EXAMPLE: D
|
|EXAMPLE:

''DUX4'' has many homologous genes; an alternate translocation in a minority of cases is t(10;19), but this is usually indistinguishable from t(4;19) by short-read sequencing (add references).
|-
|EXAMPLE: ''ALK''
|EXAMPLE: ''ELM4::ALK''

Other fusion partners include ''KIF5B, NPM1, STRN, TFG, TPM3, CLTC, KLC1''
|EXAMPLE: Fusions result in constitutive activation of the ''ALK'' tyrosine kinase. The most common ''ALK'' fusion is ''EML4::ALK'', with breakpoints in intron 19 of ''ALK''. At the transcript level, a variable (5’) partner gene is fused to 3’ ''ALK'' at exon 20. Rarely, ''ALK'' fusions contain exon 19 due to breakpoints in intron 18.
|EXAMPLE: N/A
|EXAMPLE: Rare (Lung adenocarcinoma)
|EXAMPLE: T
|
|EXAMPLE:

Both balanced and unbalanced forms are observed by FISH (add references).
|-
|EXAMPLE: ''ABL1''
|EXAMPLE: N/A
|EXAMPLE: Intragenic deletion of exons 2–7 in ''EGFR'' removes the ligand-binding domain, resulting in a constitutively active tyrosine kinase with downstream activation of multiple oncogenic pathways.
|EXAMPLE: N/A
|EXAMPLE: Recurrent (IDH-wildtype Glioblastoma)
|EXAMPLE: D, P, T
|
|
|-
|
|
|
|
|
|
|
|
|}
==Individual Region Genomic Gain/Loss/LOH==
Put your text here and fill in the table (''Instructions: Includes aberrations not involving gene rearrangements. Details on clinical significance such as prognosis and other important information can be provided in the notes section. Can refer to CGC workgroup tables as linked on the homepage if applicable. Please include references throughout the table. Do not delete the table.'') 
{| class="wikitable sortable"
|-
!Chr #!!'''Gain, Loss, Amp, LOH'''!!'''Minimal Region Cytoband and/or Genomic Coordinates [Genome Build; Size]'''!!'''Relevant Gene(s)'''
!'''Diagnostic, Prognostic, and Therapeutic Significance - D, P, T'''
!'''Established Clinical Significance Per Guidelines - Yes or No (Source)'''
!'''Clinical Relevance Details/Other Notes'''
|-
|EXAMPLE:
7
|EXAMPLE: Loss
|EXAMPLE:
chr7
|EXAMPLE:
Unknown
|EXAMPLE: D, P
|EXAMPLE: No
|EXAMPLE:
Presence of monosomy 7 (or 7q deletion) is sufficient for a diagnosis of AML with MDS-related changes when there is ≥20% blasts and no prior therapy (add reference). Monosomy 7/7q deletion is associated with a poor prognosis in AML (add references).
|-
|EXAMPLE:
8
|EXAMPLE: Gain
|EXAMPLE:
chr8
|EXAMPLE:
Unknown
|EXAMPLE: D, P
|
|EXAMPLE:
Common recurrent secondary finding for t(8;21) (add references).
|-
|EXAMPLE:
17
|EXAMPLE: Amp
|EXAMPLE:
17q12; chr17:39,700,064-39,728,658 [hg38; 28.6 kb]
|EXAMPLE:
''ERBB2''
|EXAMPLE: D, P, T
|
|EXAMPLE:
Amplification of ''ERBB2'' is associated with HER2 overexpression in HER2 positive breast cancer (add references). Add criteria for how amplification is defined.
|-
|
|
|
|
|
|
|
|}
==Characteristic Chromosomal or Other Global Mutational Patterns==
Put your text here and fill in the table (I''nstructions: Included in this category are alterations such as hyperdiploid; gain of odd number chromosomes including typically chromosome 1, 3, 5, 7, 11, and 17; co-deletion of 1p and 19q; complex karyotypes without characteristic genetic findings; chromothripsis; microsatellite instability; homologous recombination deficiency; mutational signature pattern; etc. Details on clinical significance such as prognosis and other important information can be provided in the notes section. Please include references throughout the table. Do not delete the table.'')
{| class="wikitable sortable"
|-
!Chromosomal Pattern
!Molecular Pathogenesis
!'''Prevalence -'''
'''Common >20%, Recurrent 5-20% or Rare <5% (Disease)'''
!'''Diagnostic, Prognostic, and Therapeutic Significance - D, P, T'''
!'''Established Clinical Significance Per Guidelines - Yes or No (Source)'''
!'''Clinical Relevance Details/Other Notes'''
|-
|EXAMPLE:
Co-deletion of 1p and 18q
|EXAMPLE: See chromosomal rearrangements table as this pattern is due to an unbalanced derivative translocation associated with oligodendroglioma (add reference).
|EXAMPLE: Common (Oligodendroglioma)
|EXAMPLE: D, P
|
|
|-
|EXAMPLE:
Microsatellite instability - hypermutated
|
|EXAMPLE: Common (Endometrial carcinoma)
|EXAMPLE: P, T
|
|
|-
|
|
|
|
|
|
|}
==Gene Mutations (SNV/INDEL)==
Put your text here and fill in the table (''Instructions: This table is not meant to be an exhaustive list; please include only genes/alterations that are recurrent or common as well either disease defining and/or clinically significant. If a gene has multiple mechanisms depending on the type or site of the alteration, add multiple entries in the table. For clinical significance, denote associations with FDA-approved therapy (not an extensive list of applicable drugs) and NCCN or other national guidelines if applicable; Can also refer to CGC workgroup tables as linked on the homepage if applicable as well as any high impact papers or reviews of gene mutations in this entity. Details on clinical significance such as prognosis and other important information such as concomitant and mutually exclusive mutations can be provided in the notes section. Please include references throughout the table. Do not delete the table.'') 
{| class="wikitable sortable"
|-
!Gene!!'''Genetic Alteration'''!!'''Tumor Suppressor Gene, Oncogene, Other'''!!'''Prevalence -'''
'''Common >20%, Recurrent 5-20% or Rare <5% (Disease)'''
!'''Diagnostic, Prognostic, and Therapeutic Significance - D, P, T '''
!'''Established Clinical Significance Per Guidelines - Yes or No (Source)'''
!'''Clinical Relevance Details/Other Notes'''
|-
|EXAMPLE:''EGFR''

 
|EXAMPLE: Exon 18-21 activating mutations
|EXAMPLE: Oncogene
|EXAMPLE: Common (lung cancer)
|EXAMPLE: T
|EXAMPLE: Yes (NCCN)
|EXAMPLE: Exons 18, 19, and 21 mutations are targetable for therapy. Exon 20 T790M variants cause resistance to first generation TKI therapy and are targetable by second and third generation TKIs (add references).
|-
|EXAMPLE: ''TP53''; Variable LOF mutations
 
|EXAMPLE: Variable LOF mutations
|EXAMPLE: Tumor Supressor Gene
|EXAMPLE: Common (breast cancer)
|EXAMPLE: P
|
|EXAMPLE: >90% are somatic; rare germline alterations associated with Li-Fraumeni syndrome (add reference). Denotes a poor prognosis in breast cancer.
|-
|EXAMPLE: ''BRAF''; Activating mutations
|EXAMPLE: Activating mutations
|EXAMPLE: Oncogene
|EXAMPLE: Common (melanoma)
|EXAMPLE: T
|
|
|-
|
|
|
|
|
|
|
|}Note: A more extensive list of mutations can be found in [https://www.cbioportal.org/ cBioportal], [https://cancer.sanger.ac.uk/cosmic COSMIC], and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.
==Epigenomic Alterations==
Put your text here
==Genes and Main Pathways Involved==
Put your text here and fill in the table (''Instructions: Please include references throughout the table. Do not delete the table.)''
{| class="wikitable sortable"
|-
!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome
|-
|EXAMPLE: ''BRAF'' and ''MAP2K1''; Activating mutations
|EXAMPLE: MAPK signaling
|EXAMPLE: Increased cell growth and proliferation
|-
|EXAMPLE: ''CDKN2A''; Inactivating mutations
|EXAMPLE: Cell cycle regulation
|EXAMPLE: Unregulated cell division
|-
|EXAMPLE: ''KMT2C'' and ''ARID1A''; Inactivating mutations
|EXAMPLE: Histone modification, chromatin remodeling
|EXAMPLE: Abnormal gene expression program
|-
|
|
|
|}
==Genetic Diagnostic Testing Methods==
Put your text here (''Instructions: Include recommended testing type(s) to identify the clinically significant genetic alterations.'')
==Familial Forms==
Put your text here (''Instructions: Include associated hereditary conditions/syndromes that cause this entity or are caused by this entity.'') 
==Additional Information==
Put your text here
==Links==
Put a link here or anywhere appropriate in this page (''Instructions: Highlight the text to which you want to add a link in this section or elsewhere, select the "Link" icon at the top of the wiki page, and search the name of the internal page to which you want to link this text, or enter an external internet address by including the "<nowiki>http://www</nowiki>." portion.'')
==References==
(use the "Cite" icon at the top of the page) (''Instructions: Add each reference into the text above by clicking where you want to insert the reference, selecting the “Cite” icon at the top of the wiki page, and using the “Automatic” tab option to search by PMID to select the reference to insert. If a PMID is not available, such as for a book, please use the “Cite” icon, select “Manual” and then “Basic Form”, and include the entire reference. To insert the same reference again later in the page, select the “Cite” icon and “Re-use” to find the reference; DO NOT insert the same reference twice using the “Automatic” tab as it will be treated as two separate references. The reference list in this section will be automatically generated and sorted''''.'')
==Notes==
<nowiki></nowiki>Primary authors will typically be those that initially create and complete the content of a page. If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the [[Leadership|''Associate Editor'']] or other CCGA representative. When pages have a major update, the new author will be acknowledged at the beginning of the page, and those who contributed previously will be acknowledged below as a prior author.

Prior Author(s):
<nowiki>*</nowiki>''Citation of this Page'': “Myxoinflammatory fibroblastic sarcoma”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/STBT5:Myxoinflammatory fibroblastic sarcoma</nowiki>.
[[Category:STBT5]][[Category:DISEASE]][[Category:Diseases M]]