STBT5:Myxoinflammatory fibroblastic sarcoma: Difference between revisions

''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" />

|''YAP1''<ref name=":0" /><ref name=":14" /><ref name=":15" />

Involving exon 6 of ''YAP1'' and exon 2 of ''MAML2''<ref name=":15" />

|Characteristic of nodular necrotizing MIFS<ref name=":15" />