Compendium of Cancer Genome Aberrations

STBT5:Solitary fibrous tumour: Difference between revisions

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<span style="color:#0070C0"> (''General Instructions – The main focus of these pages is the clinically significant genetic alterations in each disease type. Use [https://www.genenames.org/ <u>HUGO-approved gene names and symbols</u>] (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 to a table, click nearby within the table and select the > symbol that appears to be given options. 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>
{{DISPLAYTITLE:Solitary fibrous tumour}}
 
[[STBT5:Table_of_Contents|Soft Tissue and Bone Tumours (Who Classification, 5th ed.)]]
==Primary Author(s)*==
==Primary Author(s)*==
Put your text here<span style="color:#0070C0"> (''<span class="blue-text">EXAMPLE:</span>'' Jane Smith, PhD) </span>
Yiting Li MD, Reba Daniel MD, and Shashi Shetty PhD
==WHO Classification of Disease==
==WHO Classification of Disease==
<span style="color:#0070C0">(Will be autogenerated; Book will include name of specific book and have a link to the online WHO site)</span>
{| class="wikitable"
{| class="wikitable"
!Structure
!Structure
Line 9: Line 11:
|-
|-
|Book
|Book
|
|Soft Tissue and Bone Tumours (5th ed.)
|-
|-
|Category
|Category
|
|Soft tissue tumours
|-
|-
|Family
|Family
|
|Fibroblastic and myofibroblastic tumours
|-
|-
|Type
|Type
|
|Solitary fibrous tumour
|-
|-
|Subtype(s)
|Subtype(s)
|
|N/A
|}
|}
==Definition / Description of Disease==
==Related Terminology==
Put your text here <span style="color:#0070C0">(''Instructions: Brief description of approximately one paragraph - include disease context relative to other WHO classification categories, diagnostic criteria if applicable, and differential diagnosis if applicable. Other classifications can be referenced for comparison.'') </span>
 
==Synonyms / Terminology==
Put your text here <span style="color:#0070C0">(''Instructions: Include currently used terms and major historical ones, adding “(historical)” after the latter.'') </span>
==Epidemiology / Prevalence==
Put your text here
==Clinical Features==
Put your text here and fill in the table <span style="color:#0070C0">(''Instruction: Can include references in the table. Do not delete table.'') </span>
{| class="wikitable"
{| class="wikitable"
|'''Signs and Symptoms'''
|+
|<span class="blue-text">EXAMPLE:</span> Asymptomatic (incidental finding on complete blood counts)
|Acceptable
<span class="blue-text">EXAMPLE:</span> B-symptoms (weight loss, fever, night sweats)
|N/A
 
<span class="blue-text">EXAMPLE:</span> Lymphadenopathy (uncommon)
|-
|-
|'''Laboratory Findings'''
|Not Recommended
|<span class="blue-text">EXAMPLE:</span> Cytopenias
|Haemangiopericytoma; Giant cell angiofibroma; Benign solitary fibrous tumour
<span class="blue-text">EXAMPLE:</span> Lymphocytosis (low level)
|}
|}
==Sites of Involvement==
 
Put your text here <span style="color:#0070C0">(''Instruction: Indicate physical sites; <span class="blue-text">EXAMPLE:</span> nodal, extranodal, bone marrow'') </span>
==Gene Rearrangements==
==Morphologic Features==
Put your text here <span style="color:#0070C0">(''Instructions: Brief description of typically approximately one paragraph'') </span>
==Immunophenotype==
Put your text here and fill in the table <span style="color:#0070C0">(''Instruction: Can include references in the table. Do not delete table.'') </span>
{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!Finding!!Marker
!Driver Gene!!Fusion(s) and Common Partner Genes!!Molecular Pathogenesis!!Typical Chromosomal Alteration(s)
|-
!Prevalence -Common >20%, Recurrent 5-20% or Rare <5% (Disease)
|Positive (universal)||<span class="blue-text">EXAMPLE:</span> CD1
!Diagnostic, Prognostic, and Therapeutic Significance - D, P, T
|-
!Established Clinical Significance Per Guidelines - Yes or No (Source)
|Positive (subset)||
!Clinical Relevance Details/Other Notes
|-
|Negative (universal)||
|-
|-
|Negative (subset)||
|''NAB2''
|''STAT6''
|This fusion is caused by a paracentric inversion on chromosome 12q and encodes a chimeric protein that combines the EGR-binding domain of NAB2 with the transactivation domain of STAT6, thereby results in a feedforward loop of constitutive EGR1-mediated transactivation of proliferation and survival-associated growth factors.<ref>{{Cite journal|last=Chmielecki|first=Juliann|last2=Crago|first2=Aimee M|last3=Rosenberg|first3=Mara|last4=O'Connor|first4=Rachael|last5=Walker|first5=Sarah R|last6=Ambrogio|first6=Lauren|last7=Auclair|first7=Daniel|last8=McKenna|first8=Aaron|last9=Heinrich|first9=Michael C|date=2013-02|title=Whole-exome sequencing identifies a recurrent NAB2-STAT6 fusion in solitary fibrous tumors|url=https://www.nature.com/articles/ng.2522|journal=Nature Genetics|language=en|volume=45|issue=2|pages=131–132|doi=10.1038/ng.2522|issn=1061-4036}}</ref><ref name=":4">{{Cite journal|last=Mohajeri|first=Arezoo|last2=Tayebwa|first2=Johnbosco|last3=Collin|first3=Anna|last4=Nilsson|first4=Jenny|last5=Magnusson|first5=Linda|last6=von Steyern|first6=Fredrik Vult|last7=Brosjö|first7=Otte|last8=Domanski|first8=Henryk A.|last9=Larsson|first9=Olle|date=2013-10|title=Comprehensive genetic analysis identifies a pathognomonic NAB2/STAT6 fusion gene, nonrandom secondary genomic imbalances, and a characteristic gene expression profile in solitary fibrous tumor|url=https://onlinelibrary.wiley.com/doi/10.1002/gcc.22083|journal=Genes, Chromosomes and Cancer|language=en|volume=52|issue=10|pages=873–886|doi=10.1002/gcc.22083|issn=1045-2257}}</ref><ref name=":5">{{Cite journal|last=Robinson|first=Dan R|last2=Wu|first2=Yi-Mi|last3=Kalyana-Sundaram|first3=Shanker|last4=Cao|first4=Xuhong|last5=Lonigro|first5=Robert J|last6=Sung|first6=Yun-Shao|last7=Chen|first7=Chun-Liang|last8=Zhang|first8=Lei|last9=Wang|first9=Rui|date=2013-02|title=Identification of recurrent NAB2-STAT6 gene fusions in solitary fibrous tumor by integrative sequencing|url=https://www.nature.com/articles/ng.2509|journal=Nature Genetics|language=en|volume=45|issue=2|pages=180–185|doi=10.1038/ng.2509|issn=1061-4036}}</ref><ref>{{Cite journal|last=Huang|first=Shih‐Chiang|last2=Li|first2=Chien‐Feng|last3=Kao|first3=Yu‐Chien|last4=Chuang|first4=I‐Chieh|last5=Tai|first5=Hui‐Chun|last6=Tsai|first6=Jen‐Wei|last7=Yu|first7=Shih‐Chen|last8=Huang|first8=Hsuan‐Ying|last9=Lan|first9=Jui|date=2016-02|title=The clinicopathological significance of  NAB 2‐ STAT 6  gene fusions in 52 cases of intrathoracic solitary fibrous tumors|url=https://onlinelibrary.wiley.com/doi/10.1002/cam4.572|journal=Cancer Medicine|language=en|volume=5|issue=2|pages=159–168|doi=10.1002/cam4.572|issn=2045-7634}}</ref><ref>{{Cite journal|last=Vogels|first=Rob JC|last2=Vlenterie|first2=Myrella|last3=Versleijen-Jonkers|first3=Yvonne MH|last4=Ruijter|first4=Emiel|last5=Bekers|first5=Elise M|last6=Verdijk|first6=Marian AJ|last7=Link|first7=Monique M|last8=Bonenkamp|first8=Johannes J|last9=van der Graaf|first9=Winette TA|date=2014-12|title=Solitary fibrous tumor – clinicopathologic, immunohistochemical and molecular analysis of 28 cases|url=https://diagnosticpathology.biomedcentral.com/articles/10.1186/s13000-014-0224-6|journal=Diagnostic Pathology|language=en|volume=9|issue=1|doi=10.1186/s13000-014-0224-6|issn=1746-1596}}</ref><ref name=":0">{{Cite journal|last=Akaike|first=Keisuke|last2=Kurisaki-Arakawa|first2=Aiko|last3=Hara|first3=Kieko|last4=Suehara|first4=Yoshiyuki|last5=Takagi|first5=Tatsuya|last6=Mitani|first6=Keiko|last7=Kaneko|first7=Kazuo|last8=Yao|first8=Takashi|last9=Saito|first9=Tsuyoshi|date=2015-03|title=Distinct clinicopathological features of NAB2-STAT6 fusion gene variants in solitary fibrous tumor with emphasis on the acquisition of highly malignant potential|url=https://linkinghub.elsevier.com/retrieve/pii/S0046817714004912|journal=Human Pathology|language=en|volume=46|issue=3|pages=347–356|doi=10.1016/j.humpath.2014.11.018}}</ref>
|inv(12)(q13q13)
|Common
|D
|Yes (WHO)
|''NAB2''::''STAT6'' gene fusions are pathognomonic for SFT. Many different breakpoints in the exons and introns are associated with this fusion. The most common fusion variants: ''NAB2''ex4::''STAT6''ex2; ''NAB2''ex6::''STAT6''ex16/17. <ref name=":4" /><ref name=":5" /> Antiangiogenic therapy showed activity in advanced and progressive SFT<ref>{{Cite journal|last=de Bernardi|first=Axel|last2=Dufresne|first2=Armelle|last3=Mishellany|first3=Florence|last4=Blay|first4=Jean-Yves|last5=Ray-Coquard|first5=Isabelle|last6=Brahmi|first6=Mehdi|date=2022-02-20|title=Novel Therapeutic Options for Solitary Fibrous Tumor: Antiangiogenic Therapy and Beyond|url=https://www.mdpi.com/2072-6694/14/4/1064|journal=Cancers|language=en|volume=14|issue=4|pages=1064|doi=10.3390/cancers14041064|issn=2072-6694}}</ref>
|}
|}
==Chromosomal Rearrangements (Gene Fusions)==
 
Put your text here and fill in the table <span style="color:#0070C0">(''Instruction: Can include references in the table. Do not delete table.'')</span>
==Individual Region Genomic Gain/Loss/LOH==
None
{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!Chromosomal Rearrangement!!Genes in Fusion (5’ or 3’ Segments)!!Pathogenic Derivative!!Prevalence
!Chr #!!Gain, Loss, Amp, LOH!!Minimal Region Cytoband and/or Genomic Coordinates [Genome Build; Size]!!Relevant Gene(s)
!Diagnostic Significance (Yes, No or Unknown)
!Diagnostic, Prognostic, and Therapeutic Significance - D, P, T
!Prognostic Significance (Yes, No or Unknown)
!Established Clinical Significance Per Guidelines - Yes or No (Source)
!Therapeutic Significance (Yes, No or Unknown)
!Clinical Relevance Details/Other Notes
!Notes
|-
|-
|<span class="blue-text">EXAMPLE:</span> t(9;22)(q34;q11.2)||<span class="blue-text">EXAMPLE:</span> 3'ABL1 / 5'BCR||<span class="blue-text">EXAMPLE:</span> der(22)||<span class="blue-text">EXAMPLE:</span> 20% (COSMIC)
|N/A
<span class="blue-text">EXAMPLE:</span> 30% (add reference)
|N/A
|<span class="blue-text">EXAMPLE:</span> Yes
|N/A
|<span class="blue-text">EXAMPLE:</span> No
|N/A
|<span class="blue-text">EXAMPLE:</span> Yes
|N/A
|<span class="blue-text">EXAMPLE:</span>
|N/A
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).
|N/A
|}
|}
==Individual Region Genomic Gain / Loss / LOH==
==Characteristic Chromosomal or Other Global Mutational Patterns==
Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Includes aberrations not involving gene fusions. Can include references in the table. Can refer to CGC workgroup tables as linked on the homepage if applicable. Do not delete table.'') </span>
None
{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!Chr #!!Gain / Loss / Amp / LOH!!Minimal Region Genomic Coordinates [Genome Build]!!Minimal Region Cytoband
!Chromosomal Pattern
!Diagnostic Significance (Yes, No or Unknown)
!Molecular Pathogenesis
!Prognostic Significance (Yes, No or Unknown)
!Prevalence -
!Therapeutic Significance (Yes, No or Unknown)
Common >20%, Recurrent 5-20% or Rare <5% (Disease)
!Notes
!Diagnostic, Prognostic, and Therapeutic Significance - D, P, T
|-
!Established Clinical Significance Per Guidelines - Yes or No (Source)
|<span class="blue-text">EXAMPLE:</span>
!Clinical Relevance Details/Other Notes
7
|<span class="blue-text">EXAMPLE:</span> Loss
|<span class="blue-text">EXAMPLE:</span>
chr7:1-159,335,973 [hg38]
|<span class="blue-text">EXAMPLE:</span>
chr7
|<span class="blue-text">EXAMPLE:</span> Yes
|<span class="blue-text">EXAMPLE:</span> Yes
|<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 reference).
|-
|-
|<span class="blue-text">EXAMPLE:</span>
|N/A
8
|N/A
|<span class="blue-text">EXAMPLE:</span> Gain
|N/A
|<span class="blue-text">EXAMPLE:</span>
|N/A
chr8:1-145,138,636 [hg38]
|N/A
|<span class="blue-text">EXAMPLE:</span>
|N/A
chr8
|<span class="blue-text">EXAMPLE:</span> No
|<span class="blue-text">EXAMPLE:</span> No
|<span class="blue-text">EXAMPLE:</span> No
|<span class="blue-text">EXAMPLE:</span>
Common recurrent secondary finding for t(8;21) (add reference).
|}
|}
==Characteristic Chromosomal Patterns==
==Gene Mutations (SNV/INDEL)==
Put your text here <span style="color:#0070C0">(''EXAMPLE PATTERNS: 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. Do not delete table.'')</span>
There are multiple genes with single nucleotide variations that have been reported only in metastatic solitary fibrous tumor tissues including ''TP53'' and ''APAF1''.<ref name=":1">{{Cite journal|last=Park|first=Hyung Kyu|last2=Yu|first2=Dan Bi|last3=Sung|first3=Minjung|last4=Oh|first4=Ensel|last5=Kim|first5=Mingi|last6=Song|first6=Ji-Young|last7=Lee|first7=Mi-Sook|last8=Jung|first8=Kyungsoo|last9=Noh|first9=Ka-Won|date=2019|title=Molecular changes in solitary fibrous tumor progression|url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6746689/|journal=Journal of Molecular Medicine (Berlin, Germany)|volume=97|issue=10|pages=1413–1425|doi=10.1007/s00109-019-01815-8|issn=0946-2716|pmc=6746689|pmid=31321477}}</ref>
{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!Chromosomal Pattern
!Gene!!Genetic Alteration!!Tumor Suppressor Gene, Oncogene, Other!!Prevalence -
!Diagnostic Significance (Yes, No or Unknown)
Common >20%, Recurrent 5-20% or Rare <5% (Disease)
!Prognostic Significance (Yes, No or Unknown)
!Diagnostic, Prognostic, and Therapeutic Significance - D, P, T  
!Therapeutic Significance (Yes, No or Unknown)
!Established Clinical Significance Per Guidelines - Yes or No (Source)
!Notes
!Clinical Relevance Details/Other Notes
|-
|-
|<span class="blue-text">EXAMPLE:</span>
|''TERT''
Co-deletion of 1p and 18q
|Promoter mutations
|<span class="blue-text">EXAMPLE:</span> Yes
|Oncogene
|<span class="blue-text">EXAMPLE:</span> No
|Common
|<span class="blue-text">EXAMPLE:</span> No
|P
|<span class="blue-text">EXAMPLE:</span>
|No
See chromosomal rearrangements table as this pattern is due to an unbalanced derivative translocation associated with oligodendroglioma (add reference).
|''TERT'' promoter mutations were more frequent in tumors with higher risk of metastasis, have a significant association with malignant SFTs, and may identify intermediate-risk tumors with poorer prognosis.<ref name=":0" /><ref name=":1" /><ref name=":3">{{Cite journal|last=Bahrami|first=Armita|last2=Lee|first2=Seungjae|last3=Schaefer|first3=Inga-Marie|last4=Boland|first4=Jennifer M|last5=Patton|first5=Kurt T|last6=Pounds|first6=Stanley|last7=Fletcher|first7=Christopher D|date=2016-12|title=TERT promoter mutations and prognosis in solitary fibrous tumor|url=https://linkinghub.elsevier.com/retrieve/pii/S0893395222023328|journal=Modern Pathology|language=en|volume=29|issue=12|pages=1511–1522|doi=10.1038/modpathol.2016.126}}</ref><ref>{{Cite journal|last=Killela|first=Patrick J.|last2=Reitman|first2=Zachary J.|last3=Jiao|first3=Yuchen|last4=Bettegowda|first4=Chetan|last5=Agrawal|first5=Nishant|last6=Diaz|first6=Luis A.|last7=Friedman|first7=Allan H.|last8=Friedman|first8=Henry|last9=Gallia|first9=Gary L.|date=2013-04-09|title=TERT promoter mutations occur frequently in gliomas and a subset of tumors derived from cells with low rates of self-renewal|url=https://pnas.org/doi/full/10.1073/pnas.1303607110|journal=Proceedings of the National Academy of Sciences|language=en|volume=110|issue=15|pages=6021–6026|doi=10.1073/pnas.1303607110|issn=0027-8424|pmc=PMC3625331|pmid=23530248}}</ref><ref>{{Cite journal|last=Koelsche|first=Christian|last2=Renner|first2=Marcus|last3=Hartmann|first3=Wolfgang|last4=Brandt|first4=Regine|last5=Lehner|first5=Burkhard|last6=Waldburger|first6=Nina|last7=Alldinger|first7=Ingo|last8=Schmitt|first8=Thomas|last9=Egerer|first9=Gerlinde|date=2014-12|title=TERT promoter hotspot mutations are recurrent in myxoid liposarcomas but rare in other soft tissue sarcoma entities|url=https://jeccr.biomedcentral.com/articles/10.1186/1756-9966-33-33|journal=Journal of Experimental & Clinical Cancer Research|language=en|volume=33|issue=1|doi=10.1186/1756-9966-33-33|issn=1756-9966}}</ref><ref name=":2">{{Cite journal|last=Demicco|first=Elizabeth G.|last2=Wani|first2=Khalida|last3=Ingram|first3=Davis|last4=Wagner|first4=Michael|last5=Maki|first5=Robert G.|last6=Rizzo|first6=Anthony|last7=Meeker|first7=Alan|last8=Lazar|first8=Alexander J.|last9=Wang|first9=Wei-Lien|date=2018-11|title=TERT promoter mutations in solitary fibrous tumour|url=https://pubmed.ncbi.nlm.nih.gov/29985536|journal=Histopathology|volume=73|issue=5|pages=843–851|doi=10.1111/his.13703|issn=1365-2559|pmid=29985536}}</ref><ref name=":6">{{Cite journal|last=Yao|first=Chen-chen|last2=Zhou|first2=Jian|last3=Li|first3=Xiao|last4=Yang|first4=Jun|last5=Chen|first5=Gang|last6=Wei|first6=Jia|last7=Fan|first7=Qin-he|last8=Gong|first8=Qi-xing|date=2024-01-04|title=Prognostic analysis of extrameningeal solitary fibrous tumor using the modified Demicco model: a clinicopathologic study of 111 Chinese cases|url=https://www.frontiersin.org/articles/10.3389/fonc.2023.1272090/full|journal=Frontiers in Oncology|volume=13|doi=10.3389/fonc.2023.1272090|issn=2234-943X}}</ref><ref>{{Cite journal|last=Machado|first=Isidro|last2=Morales|first2=Gema Nieto|last3=Cruz|first3=Julia|last4=Lavernia|first4=Javier|last5=Giner|first5=Francisco|last6=Navarro|first6=Samuel|last7=Ferrandez|first7=Antonio|last8=Llombart-Bosch|first8=Antonio|date=2020-04|title=Solitary fibrous tumor: a case series identifying pathological adverse factors—implications for risk stratification and classification|url=http://link.springer.com/10.1007/s00428-019-02660-3|journal=Virchows Archiv|language=en|volume=476|issue=4|pages=597–607|doi=10.1007/s00428-019-02660-3|issn=0945-6317}}</ref>
|}
==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 and common as well either disease defining and/or clinically significant. Can include references 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. Do not delete table.'') </span>
{| class="wikitable sortable"
|-
|-
!Gene; Genetic Alteration!!'''Presumed Mechanism (Tumor Suppressor Gene [TSG] / Oncogene / Other)'''!!'''Prevalence (COSMIC / TCGA / Other)'''!!'''Concomitant Mutations'''!!'''Mutually Exclusive Mutations'''
|''TP53''
!'''Diagnostic Significance (Yes, No or Unknown)'''
<br />
!Prognostic Significance (Yes, No or Unknown)
|Missense or frameshift mutation<ref name=":3" />
!Therapeutic Significance (Yes, No or Unknown)
|Tumor Supressor Gene
!Notes
|Common
|P
|No
|Mutations of ''TP53'' have been associated with malignant and dedifferentiated SFTs.<ref name=":0" /><ref name=":6" /><ref>{{Cite journal|last=Dagrada|first=Gian P|last2=Spagnuolo|first2=Rosalin D|last3=Mauro|first3=Valentina|last4=Tamborini|first4=Elena|last5=Cesana|first5=Luca|last6=Gronchi|first6=Alessandro|last7=Stacchiotti|first7=Silvia|last8=Pierotti|first8=Marco A|last9=Negri|first9=Tiziana|date=2015-08|title=Solitary fibrous tumors: loss of chimeric protein expression and genomic instability mark dedifferentiation|url=https://linkinghub.elsevier.com/retrieve/pii/S0893395222013904|journal=Modern Pathology|language=en|volume=28|issue=8|pages=1074–1083|doi=10.1038/modpathol.2015.70}}</ref><ref>{{Cite journal|last=Kurisaki-Arakawa|first=Aiko|last2=Akaike|first2=Keisuke|last3=Hara|first3=Kieko|last4=Arakawa|first4=Atsushi|last5=Takahashi|first5=Michiko|last6=Mitani|first6=Keiko|last7=Yao|first7=Takashi|last8=Saito|first8=Tsuyoshi|date=2014-11|title=A case of dedifferentiated solitary fibrous tumor in the pelvis with TP53 mutation|url=https://pubmed.ncbi.nlm.nih.gov/25015562|journal=Virchows Archiv: An International Journal of Pathology|volume=465|issue=5|pages=615–621|doi=10.1007/s00428-014-1625-3|issn=1432-2307|pmid=25015562}}</ref><ref>{{Cite journal|last=Nonaka|first=Haruna|last2=Kandori|first2=Shuya|last3=Nitta|first3=Satoshi|last4=Shiga|first4=Masanobu|last5=Nagumo|first5=Yoshiyuki|last6=Kimura|first6=Tomokazu|last7=Kawahara|first7=Takashi|last8=Negoro|first8=Hiromitsu|last9=Hoshi|first9=Akio|date=2021|title=Case Report: Molecular Characterization of Aggressive Malignant Retroperitoneal Solitary Fibrous Tumor: A Case Study|url=https://pubmed.ncbi.nlm.nih.gov/35004271|journal=Frontiers in Oncology|volume=11|pages=736969|doi=10.3389/fonc.2021.736969|issn=2234-943X|pmc=8727594|pmid=35004271}}</ref>
|-
|-
|<span class="blue-text">EXAMPLE:</span> ''TP53''; Variable LOF mutations
|''APAF1''
<span class="blue-text">EXAMPLE:</span>
|LOF mutation<ref name=":1" />
|Other
|Common
|P
|No
|Alteration of ''APAF1'' results in gain of a stop codon. The gene is inactivated by DNA methylation of the promoter region. Decreased ''APAF1'' is considered to lead to inhibition of apoptosis.  This alteration and decreased ''APAF1'' mRNA expression was observed in metastatic SFT.<ref name=":1" />
|}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.


''EGFR''; Exon 20 mutations
<span class="blue-text">EXAMPLE:</span> ''BRAF''; Activating mutations
|<span class="blue-text">EXAMPLE:</span> TSG
|<span class="blue-text">EXAMPLE:</span> 20% (COSMIC)
<span class="blue-text">EXAMPLE:</span> 30% (add Reference)
|<span class="blue-text">EXAMPLE:</span> ''IDH1'' R123H
|<span class="blue-text">EXAMPLE:</span> ''EGFR'' amplification
|<span class="blue-text">EXAMPLE:</span> Yes
|<span class="blue-text">EXAMPLE:</span> No
|<span class="blue-text">EXAMPLE:</span> No
|<span class="blue-text">EXAMPLE:</span> Excludes hairy cell leukemia (HCL) (add reference).
|}Note: A more extensive list of mutations can be found in cBioportal (https://www.cbioportal.org/), COSMIC (https://cancer.sanger.ac.uk/cosmic), ICGC (https://dcc.icgc.org/) 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: Can include references in the table. Do not delete table.'')</span>
{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome
!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome
|-
|-
|<span class="blue-text">EXAMPLE:</span> ''BRAF'' and ''MAP2K1''; Activating mutations
|''NAB2::STAT6''; Activating mutation
|<span class="blue-text">EXAMPLE:</span> MAPK signaling
|EGR Pathway
|<span class="blue-text">EXAMPLE:</span> Increased cell growth and proliferation
|Increased activation of EGR1
|-
|<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
|}
|}
==Genetic Diagnostic Testing Methods==
==Genetic Diagnostic Testing Methods==
Put your text here
 
# '''Fusion testing'''
#* Next generation sequencing (NGS) using mRNA targeting the fusion
#* Dual color dual fusion fluorescence ''in situ'' hybridization (FISH) probe targeting both genes<ref>{{Cite journal|last=Kouba|first=Erik|last2=Simper|first2=Novae B.|last3=Chen|first3=Shaoxiong|last4=Williamson|first4=Sean R.|last5=Grignon|first5=David J.|last6=Eble|first6=John N.|last7=MacLennan|first7=Gregory T.|last8=Montironi|first8=Rodolfo|last9=Lopez-Beltran|first9=Antonio|date=2017-06-01|title=Solitary fibrous tumour of the genitourinary tract: a clinicopathological study of 11 cases and their association with the NAB2-STAT6 fusion gene|url=https://jcp.bmj.com/content/70/6/508|journal=Journal of Clinical Pathology|language=en|volume=70|issue=6|pages=508–514|doi=10.1136/jclinpath-2016-204088|issn=0021-9746|pmid=27802414}}</ref>
#** a direct confirmation for ''NAB2::STAT6'' fusion
# '''Breakpoint detection'''
#* Breakpoint fluorescence ''in situ'' hybridization (FISH) probe for ''STAT6''
 
==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>
Not Applicable
==Additional Information==
==Additional Information==
Put your text here
 
'''Immunohistochemistry testing'''
* STAT6 (signal transducer and activator of transcription 6) immunostain
** nuclear staining
** high sensitivity and specificity<ref>{{Cite journal|last=Doyle|first=Leona A|last2=Vivero|first2=Marina|last3=Fletcher|first3=Christopher DM|last4=Mertens|first4=Fredrik|last5=Hornick|first5=Jason L|date=2014-03|title=Nuclear expression of STAT6 distinguishes solitary fibrous tumor from histologic mimics|url=https://linkinghub.elsevier.com/retrieve/pii/S0893395222018294|journal=Modern Pathology|language=en|volume=27|issue=3|pages=390–395|doi=10.1038/modpathol.2013.164}}</ref>
==Links==
==Links==
(use the "Link" icon that looks like two overlapping circles at the top of the page) <span style="color:#0070C0">(''Instructions: Highlight text to which you want to add a link in this section or elsewhere, select the "Link" icon at the top of the 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 on where you want to insert the reference, selecting the “Cite” icon at the top of the page, and using the “Automatic” tab option to search such as by PMID to select the reference to insert. The reference list in this section will be automatically generated and sorted.''</span> <span style="color:#0070C0">''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''</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 CCGA coordinators (contact information provided on the homepage). Additional global feedback or concerns are also welcome.
 
 
<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): *''Citation of this Page'': “Solitary fibrous tumour”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/STBT5:Solitary fibrous tumour</nowiki>.
[[Category:STBT5]]
[[Category:DISEASE]]
[[Category:Diseases S]]
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