STBT5:Solitary fibrous tumour: Difference between revisions
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[[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)*== | ==Primary Author(s)*== | ||
Reba Daniel and Shashi Shetty | Yiting Li MD, Reba Daniel MD, and Shashi Shetty PhD | ||
==WHO Classification of Disease== | ==WHO Classification of Disease== | ||
| Line 35: | Line 33: | ||
|- | |- | ||
|Not Recommended | |Not Recommended | ||
| | |Haemangiopericytoma; Giant cell angiofibroma; Benign solitary fibrous tumour | ||
|} | |} | ||
| Line 47: | Line 45: | ||
!Clinical Relevance Details/Other Notes | !Clinical Relevance Details/Other Notes | ||
|- | |- | ||
|''NAB2'' | |||
|''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) | |inv(12)(q13q13) | ||
|Common | |Common | ||
|D | |D | ||
| | |Yes (WHO) | ||
|''NAB2'' | |''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> | ||
|} | |} | ||
| Line 94: | Line 92: | ||
|} | |} | ||
==Gene Mutations (SNV/INDEL)== | ==Gene Mutations (SNV/INDEL)== | ||
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> | 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" | ||
|- | |- | ||
| Line 106: | Line 104: | ||
|Promoter mutations | |Promoter mutations | ||
|Oncogene | |Oncogene | ||
|Common | |Common | ||
|P | |P | ||
|No | |No | ||
| | |''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> | ||
|- | |- | ||
|''TP53'' | |''TP53'' | ||
<br /> | <br /> | ||
| | |Missense or frameshift mutation<ref name=":3" /> | ||
|Tumor Supressor Gene | |Tumor Supressor Gene | ||
|Common | |Common | ||
|P | |P | ||
|No | |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> | ||
|- | |- | ||
|'' | |''APAF1'' | ||
| | |LOF mutation<ref name=":1" /> | ||
|Other | |Other | ||
|Common | |Common | ||
|P | |P | ||
|No | |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. | |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. | |}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. | ||
| Line 144: | Line 134: | ||
!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome | !Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome | ||
|- | |- | ||
|NAB2::STAT6; Activating mutation | |''NAB2::STAT6''; Activating mutation | ||
|EGR Pathway | |EGR Pathway | ||
|Increased activation of EGR1 | |Increased activation of EGR1 | ||
| Line 151: | Line 141: | ||
==Genetic Diagnostic Testing Methods== | ==Genetic Diagnostic Testing Methods== | ||
# Fusion testing | # '''Fusion testing''' | ||
#* Next generation sequencing (NGS) using mRNA | #* 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 | #** a direct confirmation for ''NAB2::STAT6'' fusion | ||
#* | # '''Breakpoint detection''' | ||
#* Breakpoint fluorescence ''in situ'' hybridization (FISH) probe for ''STAT6'' | |||
==Familial Forms== | ==Familial Forms== | ||
| Line 164: | Line 152: | ||
==Additional Information== | ==Additional Information== | ||
'''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== | ||
None | None | ||