Compendium of Cancer Genome Aberrations

STBT5:Inflammatory myofibroblastic tumour: Difference between revisions

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{{DISPLAYTITLE:Inflammatory myofibroblastic tumour}}
{{DISPLAYTITLE:Inflammatory myofibroblastic tumour}}
[[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.)]]
==Primary Author(s)*==
Katherine Geiersbach, MD, Mayo Clinic - Rochester, MN, USA


{{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)*==
Put your text here<span style="color:#0070C0"> (''<span class="blue-text">EXAMPLE:</span>'' Jane Smith, PhD) </span>
==WHO Classification of Disease==
==WHO Classification of Disease==


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==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==
<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
|
|Plasma cell granuloma; inflammatory pseudotumour; inflammatory myofibrohistiocytic proliferation; omental-mesenteric myxoid hamartoma; inflammatory fibrosarcoma
|}
|}


==Gene Rearrangements==
==Gene Rearrangements==
Put your text here and fill in the table <span style="color:#0070C0">(''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.'')</span>
Formerly referred to as inflammatory pseudotumor, inflammatory myofibroblastic tumor of the breast relies upon morphologic, immunohistochemical, and/or molecular features shared in common with other primary tumor sites.<ref>{{Cite journal|last=Khanafshar|first=Elham|last2=Phillipson|first2=Julia|last3=Schammel|first3=David P.|last4=Minobe|first4=Lorraine|last5=Cymerman|first5=Judith|last6=Weidner|first6=Noel|date=2005-06|title=Inflammatory myofibroblastic tumor of the breast|url=https://pubmed.ncbi.nlm.nih.gov/15944952|journal=Annals of Diagnostic Pathology|volume=9|issue=3|pages=123–129|doi=10.1016/j.anndiagpath.2005.02.001|issn=1092-9134|pmid=15944952}}</ref><ref>{{Cite journal|last=Haj|first=Mahmoud|last2=Weiss|first2=Michael|last3=Loberant|first3=Norman|last4=Cohen|first4=Isaac|date=2003|title=Inflammatory pseudotumor of the breast: case report and literature review|url=https://pubmed.ncbi.nlm.nih.gov/12968967|journal=The Breast Journal|volume=9|issue=5|pages=423–425|doi=10.1046/j.1524-4741.2003.09516.x|issn=1075-122X|pmid=12968967}}</ref><ref>{{Cite journal|last=Zhao|first=Hua-Dong|last2=Wu|first2=Tao|last3=Wang|first3=Jun-Qing|last4=Zhang|first4=Wen-Dong|last5=He|first5=Xian-Li|last6=Bao|first6=Guo-Qiang|last7=Li|first7=Yi|last8=Gong|first8=Li|last9=Wang|first9=Qing|date=2013-01|title=Primary inflammatory myofibroblastic tumor of the breast with rapid recurrence and metastasis: A case report|url=https://pubmed.ncbi.nlm.nih.gov/23255901|journal=Oncology Letters|volume=5|issue=1|pages=97–100|doi=10.3892/ol.2012.948|issn=1792-1074|pmc=3525499|pmid=23255901}}</ref><ref>{{Cite journal|last=Kovács|first=Anikó|last2=Máthé|first2=Gyöngyvér|last3=Mattsson|first3=Jan|last4=Stenman|first4=Göran|last5=Kindblom|first5=Lars-Gunnar|date=2015|title=ALK-Positive Inflammatory Myofibroblastic Tumor of the Nipple During Pregnancy-An Unusual Presentation of a Rare Disease|url=https://pubmed.ncbi.nlm.nih.gov/25772857|journal=The Breast Journal|volume=21|issue=3|pages=297–302|doi=10.1111/tbj.12404|issn=1524-4741|pmid=25772857}}</ref> Confirmation of rearrangements of ''ALK'' or, less commonly other receptor tyrosine kinase genes, supports the diagnosis and can identify therapeutic targets<ref>{{Cite journal|last=Chmiel|first=Paulina|last2=SłOWIKOWSKA|first2=Aleksandra|last3=Banaszek|first3=Łukasz|last4=Szumera-CIEćKIEWICZ|first4=Anna|last5=Szostakowski|first5=BARTłOMIEJ|last6=SPAłEK|first6=Mateusz J.|last7=Świtaj|first7=Tomasz|last8=Rutkowski|first8=Piotr|last9=Czarnecka|first9=Anna M.|date=2024|title=Inflammatory myofibroblastic tumor from molecular diagnostics to current treatment|url=https://pubmed.ncbi.nlm.nih.gov/38948020|journal=Oncology Research|volume=32|issue=7|pages=1141–1162|doi=10.32604/or.2024.050350|issn=1555-3906|pmc=PMC11209743|pmid=38948020}}</ref>. However, molecular confirmation is not required if ALK immunohistochemistry is definitively positive.<ref>{{Cite journal|last=Coffin|first=C. M.|last2=Patel|first2=A.|last3=Perkins|first3=S.|last4=Elenitoba-Johnson|first4=K. S.|last5=Perlman|first5=E.|last6=Griffin|first6=C. A.|date=2001-06|title=ALK1 and p80 expression and chromosomal rearrangements involving 2p23 in inflammatory myofibroblastic tumor|url=https://pubmed.ncbi.nlm.nih.gov/11406658|journal=Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc|volume=14|issue=6|pages=569–576|doi=10.1038/modpathol.3880352|issn=0893-3952|pmid=11406658}}</ref><ref>{{Cite journal|last=Cook|first=J. R.|last2=Dehner|first2=L. P.|last3=Collins|first3=M. H.|last4=Ma|first4=Z.|last5=Morris|first5=S. W.|last6=Coffin|first6=C. M.|last7=Hill|first7=D. A.|date=2001-11|title=Anaplastic lymphoma kinase (ALK) expression in the inflammatory myofibroblastic tumor: a comparative immunohistochemical study|url=https://pubmed.ncbi.nlm.nih.gov/11684952|journal=The American Journal of Surgical Pathology|volume=25|issue=11|pages=1364–1371|doi=10.1097/00000478-200111000-00003|issn=0147-5185|pmid=11684952}}</ref><ref>{{Cite journal|last=Pickett|first=Justine L.|last2=Chou|first2=Angela|last3=Andrici|first3=Juliana A.|last4=Clarkson|first4=Adele|last5=Sioson|first5=Loretta|last6=Sheen|first6=Amy|last7=Reagh|first7=Jessica|last8=Najdawi|first8=Fedaa|last9=Kim|first9=Yoomee|date=2017-10|title=Inflammatory Myofibroblastic Tumors of the Female Genital Tract Are Under-recognized: A Low Threshold for ALK Immunohistochemistry Is Required|url=https://pubmed.ncbi.nlm.nih.gov/28731868|journal=The American Journal of Surgical Pathology|volume=41|issue=10|pages=1433–1442|doi=10.1097/PAS.0000000000000909|issn=1532-0979|pmc=5598906|pmid=28731868}}</ref> Of note, exceptional situations such as inversions or other cryptic rearrangements of ''ALK'' at 2p23 may lead to a false-negative FISH result<ref>{{Cite journal|last=Haimes|first=Josh D.|last2=Stewart|first2=Colin J. R.|last3=Kudlow|first3=Brian A.|last4=Culver|first4=Brady P.|last5=Meng|first5=Bo|last6=Koay|first6=Eleanor|last7=Whitehouse|first7=Ann|last8=Cope|first8=Nichola|last9=Lee|first9=Jen-Chieh|date=2017-06|title=Uterine Inflammatory Myofibroblastic Tumors Frequently Harbor ALK Fusions With IGFBP5 and THBS1|url=https://pubmed.ncbi.nlm.nih.gov/28490045|journal=The American Journal of Surgical Pathology|volume=41|issue=6|pages=773–780|doi=10.1097/PAS.0000000000000801|issn=1532-0979|pmid=28490045}}</ref>, and other molecular testing such as RNA-Seq can be used to detect ''ALK'' fusions efficiently. In ALK-negative cases, immunohistochemistry for ROS1 and/or molecular tests for non-''ALK'' gene fusions may be useful.<ref name=":0">{{Cite journal|last=Lovly|first=Christine M.|last2=Gupta|first2=Abha|last3=Lipson|first3=Doron|last4=Otto|first4=Geoff|last5=Brennan|first5=Tina|last6=Chung|first6=Catherine T.|last7=Borinstein|first7=Scott C.|last8=Ross|first8=Jeffrey S.|last9=Stephens|first9=Philip J.|date=2014-08|title=Inflammatory myofibroblastic tumors harbor multiple potentially actionable kinase fusions|url=https://pubmed.ncbi.nlm.nih.gov/24875859|journal=Cancer Discovery|volume=4|issue=8|pages=889–895|doi=10.1158/2159-8290.CD-14-0377|issn=2159-8290|pmc=4125481|pmid=24875859}}</ref><ref>{{Cite journal|last=Hornick|first=Jason L.|last2=Sholl|first2=Lynette M.|last3=Dal Cin|first3=Paola|last4=Childress|first4=Merrida A.|last5=Lovly|first5=Christine M.|date=2015-05|title=Expression of ROS1 predicts ROS1 gene rearrangement in inflammatory myofibroblastic tumors|url=https://pubmed.ncbi.nlm.nih.gov/25612511|journal=Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc|volume=28|issue=5|pages=732–739|doi=10.1038/modpathol.2014.165|issn=1530-0285|pmc=5874150|pmid=25612511}}</ref><ref name=":1">{{Cite journal|last=Yamamoto|first=Hidetaka|last2=Yoshida|first2=Akihiko|last3=Taguchi|first3=Kenichi|last4=Kohashi|first4=Kenichi|last5=Hatanaka|first5=Yui|last6=Yamashita|first6=Atsushi|last7=Mori|first7=Daisuke|last8=Oda|first8=Yoshinao|date=2016-07|title=ALK, ROS1 and NTRK3 gene rearrangements in inflammatory myofibroblastic tumours|url=https://pubmed.ncbi.nlm.nih.gov/26647767|journal=Histopathology|volume=69|issue=1|pages=72–83|doi=10.1111/his.12910|issn=1365-2559|pmid=26647767}}</ref><ref>{{Cite journal|last=Lovly|first=Christine M.|last2=Gupta|first2=Abha|last3=Lipson|first3=Doron|last4=Otto|first4=Geoff|last5=Brennan|first5=Tina|last6=Chung|first6=Catherine T.|last7=Borinstein|first7=Scott C.|last8=Ross|first8=Jeffrey S.|last9=Stephens|first9=Philip J.|date=2014-08|title=Inflammatory myofibroblastic tumors harbor multiple potentially actionable kinase fusions|url=https://pubmed.ncbi.nlm.nih.gov/24875859|journal=Cancer Discovery|volume=4|issue=8|pages=889–895|doi=10.1158/2159-8290.CD-14-0377|issn=2159-8290|pmc=4125481|pmid=24875859}}</ref><ref name=":2">{{Cite journal|last=Alassiri|first=Ali H.|last2=Ali|first2=Rola H.|last3=Shen|first3=Yaoqing|last4=Lum|first4=Amy|last5=Strahlendorf|first5=Caron|last6=Deyell|first6=Rebecca|last7=Rassekh|first7=Rod|last8=Sorensen|first8=Poul H.|last9=Laskin|first9=Janessa|date=2016-08|title=ETV6-NTRK3 Is Expressed in a Subset of ALK-Negative Inflammatory Myofibroblastic Tumors|url=https://pubmed.ncbi.nlm.nih.gov/27259007|journal=The American Journal of Surgical Pathology|volume=40|issue=8|pages=1051–1061|doi=10.1097/PAS.0000000000000677|issn=1532-0979|pmid=27259007}}</ref><ref>{{Cite journal|last=Antonescu|first=Cristina R.|last2=Suurmeijer|first2=Albert J. H.|last3=Zhang|first3=Lei|last4=Sung|first4=Yun-Shao|last5=Jungbluth|first5=Achim A.|last6=Travis|first6=William D.|last7=Al-Ahmadie|first7=Hikmat|last8=Fletcher|first8=Christopher D. M.|last9=Alaggio|first9=Rita|date=2015-07|title=Molecular characterization of inflammatory myofibroblastic tumors with frequent ALK and ROS1 gene fusions and rare novel RET rearrangement|url=https://pubmed.ncbi.nlm.nih.gov/25723109|journal=The American Journal of Surgical Pathology|volume=39|issue=7|pages=957–967|doi=10.1097/PAS.0000000000000404|issn=1532-0979|pmc=4465992|pmid=25723109}}</ref>
{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
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!Clinical Relevance Details/Other Notes
!Clinical Relevance Details/Other Notes
|-
|-
|<span class="blue-text">EXAMPLE:</span> ''ABL1''||<span class="blue-text">EXAMPLE:</span> ''BCR::ABL1''||<span class="blue-text">EXAMPLE:</span> The pathogenic derivative is the der(22) resulting in fusion of 5’ BCR and 3’ABL1.||<span class="blue-text">EXAMPLE:</span> t(9;22)(q34;q11.2)
|''ALK''||''TPM3''::''ALK, TPM4''::''ALK, EML4''::''ALK'', ''RANBP2''::''ALK, CLTC''::''ALK'', and others||Fusions result in constitutive activation of the ''ALK'' tyrosine kinase. The most common ''ALK'' fusion breakpoints occur in intron 19 of ''ALK''. At the transcript level, a variable (5’) partner gene is fused to 3’ ''ALK'' at exon 20. At the DNA level, alternative ''ALK'' breakpoints in rare cases occur upstream of exon 19, most commonly in intron 18.||Rearrangements of ''ALK'' gene locus at 2p23
|<span class="blue-text">EXAMPLE:</span> Common (CML)
|Common
|<span class="blue-text">EXAMPLE:</span> D, P, T
|D, T
|<span class="blue-text">EXAMPLE:</span> Yes (WHO, NCCN)
|Yes (WHO)
|<span class="blue-text">EXAMPLE:</span>
|
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).
|-
|-
|<span class="blue-text">EXAMPLE:</span> ''CIC''
|''ROS1''
|<span class="blue-text">EXAMPLE:</span> ''CIC::DUX4''
|''TFG''::''ROS1'', ''YWHAE''::''ROS1'', and others
|<span class="blue-text">EXAMPLE:</span> 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''.
|Fusions result in constitutive activation of the ''ROS1'' tyrosine kinase. Most common ''ROS1'' breakpoints occur in intron 35; at the transcript level, various 5' partner genes are fused to exon 36 of ''ROS1''.<ref name=":0" />
|<span class="blue-text">EXAMPLE:</span> t(4;19)(q25;q13)
|Rearrangements of ''ROS1'' gene locus at 6q22
|<span class="blue-text">EXAMPLE:</span> Common (CIC-rearranged sarcoma)
|Recurrent
|<span class="blue-text">EXAMPLE:</span> D
|D, T
|Yes (WHO)
|
|
|<span class="blue-text">EXAMPLE:</span>
''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).
|-
|-
|<span class="blue-text">EXAMPLE:</span> ''ALK''
|''NTRK3''
|<span class="blue-text">EXAMPLE:</span> ''ELM4::ALK''
|''ETV6''::''NTRK3'' and others
 
|Fusions result in constitutive activation of the ''NTRK3'' tyrosine kinase. Most commonly exon 5 of ''ETV6'' is joined to exon 15 of ''NTRK3'' at the transcript level.<ref name=":1" /><ref name=":2" />
 
|Rearrangements of ''NTRK3'' gene locus at 15q25. Classically, the reciprocal translocation t(12;15)(p13;q25) is associated with ''ETV6''::''NTRK3'' rearrangement.
Other fusion partners include ''KIF5B, NPM1, STRN, TFG, TPM3, CLTC, KLC1''
|Recurrent
|<span class="blue-text">EXAMPLE:</span> 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.
|D, T
|<span class="blue-text">EXAMPLE:</span> N/A
|Yes (WHO)
|<span class="blue-text">EXAMPLE:</span> Rare (Lung adenocarcinoma)
|<span class="blue-text">EXAMPLE:</span> T
|
|
|<span class="blue-text">EXAMPLE:</span>
Both balanced and unbalanced forms are observed by FISH (add references).
|-
|-
|<span class="blue-text">EXAMPLE:</span> ''ABL1''
|''PDGFRB''
|<span class="blue-text">EXAMPLE:</span> N/A
|''NAB2''::''PDGFRB''<ref name=":0" /> and others
|<span class="blue-text">EXAMPLE:</span> 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.
|Fusions result in constitutive activation of the ''PDGFRB'' tyrosine kinase.<ref name=":0" />
|<span class="blue-text">EXAMPLE:</span> N/A
|Rearrangements of the ''PDGFRB'' gene locus at 5q32.
|<span class="blue-text">EXAMPLE:</span> Recurrent (IDH-wildtype Glioblastoma)
|Rare
|<span class="blue-text">EXAMPLE:</span> D, P, T
|D, T
|
|Yes (WHO)
|
|
|-
|-
|''RET''
|
|
|Fusions result in constitutive activation of the ''RET'' tyrosine kinase.
|Rearrangements of the ''RET'' gene locus at 10q11.
|Rare
|D, T
|Yes (WHO)
|
|
|-
|''NTRK1''
|
|
|Fusions result in constitutive activation of the ''NTRK1'' tyrosine kinase.
|Rearrangements of the ''NTRK1'' gene locus at 1q23.
|Rare
|D, T
|
|
|
|
|-
|''IGF1R''
|
|
|Fusions result in constitutive activation of the ''IGF1R'' tyrosine kinase.
|Rearrangements of the ''IGF1R'' gene locus at 15q26.
|Rare
|D, T
|
|
|
|
|}
|}
==Individual Region Genomic Gain/Loss/LOH==
==Individual Region Genomic Gain/Loss/LOH==
Put your text here and fill in the table <span style="color:#0070C0">(''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.'') </span>
None
{| 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>
|N/A
7
|N/A
|<span class="blue-text">EXAMPLE:</span> Loss
|N/A
|<span class="blue-text">EXAMPLE:</span>
|N/A
chr7
|N/A
|<span class="blue-text">EXAMPLE:</span>
|N/A
Unknown
|N/A
|<span class="blue-text">EXAMPLE:</span> D, P
|<span class="blue-text">EXAMPLE:</span> No
|<span class="blue-text">EXAMPLE:</span>
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).
|-
|<span class="blue-text">EXAMPLE:</span>
8
|<span class="blue-text">EXAMPLE:</span> Gain
|<span class="blue-text">EXAMPLE:</span>
chr8
|<span class="blue-text">EXAMPLE:</span>
Unknown
|<span class="blue-text">EXAMPLE:</span> D, P
|
|<span class="blue-text">EXAMPLE:</span>
Common recurrent secondary finding for t(8;21) (add references).
|-
|<span class="blue-text">EXAMPLE:</span>
17
|<span class="blue-text">EXAMPLE:</span> Amp
|<span class="blue-text">EXAMPLE:</span>
17q12; chr17:39,700,064-39,728,658 [hg38; 28.6 kb]
|<span class="blue-text">EXAMPLE:</span>
''ERBB2''
|<span class="blue-text">EXAMPLE:</span> D, P, T
|
|<span class="blue-text">EXAMPLE:</span>
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==
==Characteristic Chromosomal or Other Global Mutational Patterns==
Put your text here and fill in the table <span style="color:#0070C0">(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.'')</span>
None
{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!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>
|N/A
Co-deletion of 1p and 18q
|N/A
|<span class="blue-text">EXAMPLE:</span> See chromosomal rearrangements table as this pattern is due to an unbalanced derivative translocation associated with oligodendroglioma (add reference).
|N/A
|<span class="blue-text">EXAMPLE:</span> Common (Oligodendroglioma)
|N/A
|<span class="blue-text">EXAMPLE:</span> D, P
|N/A
|
|N/A
|
|-
|<span class="blue-text">EXAMPLE:</span>
Microsatellite instability - hypermutated
|
|<span class="blue-text">EXAMPLE:</span> Common (Endometrial carcinoma)
|<span class="blue-text">EXAMPLE:</span> P, T
|
|
|-
|
|
|
|
|
|
|}
|}
==Gene Mutations (SNV/INDEL)==
==Gene Mutations (SNV/INDEL)==
Put your text here and fill in the table <span style="color:#0070C0">(''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.'') </span>
None
{| class="wikitable sortable"
{| class="wikitable sortable"
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!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
|-
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|<span class="blue-text">EXAMPLE:</span>''EGFR''
|N/A
 
|N/A
<br />
|N/A
|<span class="blue-text">EXAMPLE:</span> Exon 18-21 activating mutations
|N/A
|<span class="blue-text">EXAMPLE:</span> Oncogene
|N/A
|<span class="blue-text">EXAMPLE:</span> Common (lung cancer)
|N/A
|<span class="blue-text">EXAMPLE:</span> T
|N/A
|<span class="blue-text">EXAMPLE:</span> Yes (NCCN)
|<span class="blue-text">EXAMPLE:</span> 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).
|-
|<span class="blue-text">EXAMPLE:</span> ''TP53''; Variable LOF mutations
<br />
|<span class="blue-text">EXAMPLE:</span> Variable LOF mutations
|<span class="blue-text">EXAMPLE:</span> Tumor Supressor Gene
|<span class="blue-text">EXAMPLE:</span> Common (breast cancer)
|<span class="blue-text">EXAMPLE:</span> P
|
|<span class="blue-text">EXAMPLE:</span> >90% are somatic; rare germline alterations associated with Li-Fraumeni syndrome (add reference). Denotes a poor prognosis in breast cancer.
|-
|<span class="blue-text">EXAMPLE:</span> ''BRAF''; Activating mutations
|<span class="blue-text">EXAMPLE:</span> Activating mutations
|<span class="blue-text">EXAMPLE:</span> Oncogene
|<span class="blue-text">EXAMPLE:</span> Common (melanoma)
|<span class="blue-text">EXAMPLE:</span> T
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|}Note: A more extensive list of mutations can be found in [https://www.cbioportal.org/ <u>cBioportal</u>], [https://cancer.sanger.ac.uk/cosmic <u>COSMIC</u>], and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.
|}Note: A more extensive list of mutations can be found in [https://www.cbioportal.org/ <u>cBioportal</u>], [https://cancer.sanger.ac.uk/cosmic <u>COSMIC</u>], and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.
==Epigenomic Alterations==
==Epigenomic Alterations==
Put your text here
None
==Genes and Main Pathways Involved==
==Genes and Main Pathways Involved==
Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Please include references throughout the table. Do not delete the table.)''</span>
{| class="wikitable sortable"
{| class="wikitable sortable"
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!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome
!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome
|-
|-
|<span class="blue-text">EXAMPLE:</span> ''BRAF'' and ''MAP2K1''; Activating mutations
|''ALK, ROS1, NTRK3, NTRK1, RET, PDGFRB, RET,'' and other tyrosine kinase genes; Activating gene fusions
|<span class="blue-text">EXAMPLE:</span> MAPK signaling
|JAK/STAT3, PI3K, RAS/RAF/MAPK signaling
|<span class="blue-text">EXAMPLE:</span> Increased cell growth and proliferation
|Increased cell growth and proliferation
|-
|<span class="blue-text">EXAMPLE:</span> ''CDKN2A''; Inactivating mutations
|<span class="blue-text">EXAMPLE:</span> Cell cycle regulation
|<span class="blue-text">EXAMPLE:</span> Unregulated cell division
|-
|<span class="blue-text">EXAMPLE:</span> ''KMT2C'' and ''ARID1A''; Inactivating mutations
|<span class="blue-text">EXAMPLE:</span> Histone modification, chromatin remodeling
|<span class="blue-text">EXAMPLE:</span> Abnormal gene expression program
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|}
==Genetic Diagnostic Testing Methods==
==Genetic Diagnostic Testing Methods==
Put your text here <span style="color:#0070C0">(''Instructions: Include recommended testing type(s) to identify the clinically significant genetic alterations.'')</span>
Next generation sequencing and RT-PCR for fusion detection; FISH; immunohistochemistry for ''ALK, ROS1'' (less sensitive/specific), and ''NTRK1/2/3'' fusion detection.
 
==Familial Forms==
==Familial Forms==
Put your text here <span style="color:#0070C0">(''Instructions: Include associated hereditary conditions/syndromes that cause this entity or are caused by this entity.'') </span>
None
==Additional Information==
==Additional Information==
Put your text here
None
==Links==
==Links==
Put a link here or anywhere appropriate in this page <span style="color:#0070C0">(''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.'')</span>
None
==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>
 
<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.  


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