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Soft Tissue and Bone Tumours (Who Classification, 5th ed.)

This page is under construction

Primary Author(s)*

Reba Daniel and Shashi Shetty

WHO Classification of Disease

Structure	Disease
Book	Soft Tissue and Bone Tumours (5th ed.)
Category	Soft tissue tumours
Family	Fibroblastic and myofibroblastic tumours
Type	Solitary fibrous tumour
Subtype(s)	N/A

Related Terminology


Acceptable	N/A
Not Recommended	Solitary fibrous tumour / Haemangiopericytoma; Haemangiopericytoma

Gene Rearrangements

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
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.^[1]^[2]^[3]^[4]^[5]^[6]	inv(12)(q13q13)	Common	D	Y (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: NAB2ex4-STAT6ex2; NAB2ex6-STAT6ex16/17. ^[2]^[3]

Individual Region Genomic Gain/Loss/LOH

None

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
N/A	N/A	N/A	N/A	N/A	N/A	N/A

Characteristic Chromosomal or Other Global Mutational Patterns

None

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
N/A	N/A	N/A	N/A	N/A	N/A

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.^[7]

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
TERT	Promoter mutations	Oncogene	Common	P	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.^[6]^[7]^[8]^[9]^[10]^[11]^[12]^[13]
TP53	Missense or fram-shift mutation in exon 5 or exon 6 ^[8]	Tumor Supressor Gene	Common	P	No	Mutations of TP53 have been associated with malignant and dedifferentiated SFTs.^[6]^[12]^[14]^[15]^[16]
APAF1	LOF mutation^[7]	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.^[7]

Note: A more extensive list of mutations can be found in cBioportal, COSMIC, and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.

Epigenomic Alterations

None

Genes and Main Pathways Involved

Gene; Genetic Alteration	Pathway	Pathophysiologic Outcome
NAB2::STAT6; Activating mutation	EGR Pathway	Increased activation of EGR1

Genetic Diagnostic Testing Methods

Fusion testing
- Next generation sequencing (NGS) using mRNA targeting the fusion
- Dual color dual fusion probe targeting both genes^[17]
  - a direct confirmation for NAB2::STAT6 fusion
Breakpoint detection
- Breakpoint fluorescence in situ hybridization (FISH) probe for STAT6
Immunohistochemistry testing
- Immunohistochemistry testing, STAT6 (signal transducer and activator of transcription 6) immunostain
  - nuclear staining
  - high sensitivity and specificity

Familial Forms

Not Applicable

Additional Information

None

Links

None

References

↑ Chmielecki, Juliann; et al. (2013-02). "Whole-exome sequencing identifies a recurrent NAB2-STAT6 fusion in solitary fibrous tumors". Nature Genetics. 45 (2): 131–132. doi:10.1038/ng.2522. ISSN 1061-4036. Check date values in: |date= (help)
↑ ^2.0 ^2.1 Mohajeri, Arezoo; et al. (2013-10). "Comprehensive genetic analysis identifies a pathognomonic NAB2/STAT6 fusion gene, nonrandom secondary genomic imbalances, and a characteristic gene expression profile in solitary fibrous tumor". Genes, Chromosomes and Cancer. 52 (10): 873–886. doi:10.1002/gcc.22083. ISSN 1045-2257. Check date values in: |date= (help)
↑ ^3.0 ^3.1 Robinson, Dan R; et al. (2013-02). "Identification of recurrent NAB2-STAT6 gene fusions in solitary fibrous tumor by integrative sequencing". Nature Genetics. 45 (2): 180–185. doi:10.1038/ng.2509. ISSN 1061-4036. Check date values in: |date= (help)
↑ Huang, Shih‐Chiang; et al. (2016-02). "The clinicopathological significance of NAB 2‐ STAT 6 gene fusions in 52 cases of intrathoracic solitary fibrous tumors". Cancer Medicine. 5 (2): 159–168. doi:10.1002/cam4.572. ISSN 2045-7634. Check date values in: |date= (help)
↑ Vogels, Rob JC; et al. (2014-12). "Solitary fibrous tumor – clinicopathologic, immunohistochemical and molecular analysis of 28 cases". Diagnostic Pathology. 9 (1). doi:10.1186/s13000-014-0224-6. ISSN 1746-1596. Check date values in: |date= (help)
↑ ^6.0 ^6.1 ^6.2 Akaike, Keisuke; et al. (2015-03). "Distinct clinicopathological features of NAB2-STAT6 fusion gene variants in solitary fibrous tumor with emphasis on the acquisition of highly malignant potential". Human Pathology. 46 (3): 347–356. doi:10.1016/j.humpath.2014.11.018. Check date values in: |date= (help)
↑ ^7.0 ^7.1 ^7.2 ^7.3 Park, Hyung Kyu; et al. (2019). "Molecular changes in solitary fibrous tumor progression". Journal of Molecular Medicine (Berlin, Germany). 97 (10): 1413–1425. doi:10.1007/s00109-019-01815-8. ISSN 0946-2716. PMC 6746689. PMID 31321477.
↑ ^8.0 ^8.1 Bahrami, Armita; et al. (2016-12). "TERT promoter mutations and prognosis in solitary fibrous tumor". Modern Pathology. 29 (12): 1511–1522. doi:10.1038/modpathol.2016.126. Check date values in: |date= (help)
↑ Killela, Patrick J.; et al. (2013-04-09). "TERT promoter mutations occur frequently in gliomas and a subset of tumors derived from cells with low rates of self-renewal". Proceedings of the National Academy of Sciences. 110 (15): 6021–6026. doi:10.1073/pnas.1303607110. ISSN 0027-8424. PMC 3625331. PMID 23530248.CS1 maint: PMC format (link)
↑ Koelsche, Christian; et al. (2014-12). "TERT promoter hotspot mutations are recurrent in myxoid liposarcomas but rare in other soft tissue sarcoma entities". Journal of Experimental & Clinical Cancer Research. 33 (1). doi:10.1186/1756-9966-33-33. ISSN 1756-9966. Check date values in: |date= (help)
↑ Demicco, Elizabeth G.; et al. (2018-11). "TERT promoter mutations in solitary fibrous tumour". Histopathology. 73 (5): 843–851. doi:10.1111/his.13703. ISSN 1365-2559. PMID 29985536. Check date values in: |date= (help)
↑ ^12.0 ^12.1 Yao, Chen-chen; et al. (2024-01-04). "Prognostic analysis of extrameningeal solitary fibrous tumor using the modified Demicco model: a clinicopathologic study of 111 Chinese cases". Frontiers in Oncology. 13. doi:10.3389/fonc.2023.1272090. ISSN 2234-943X.
↑ Machado, Isidro; et al. (2020-04). "Solitary fibrous tumor: a case series identifying pathological adverse factors—implications for risk stratification and classification". Virchows Archiv. 476 (4): 597–607. doi:10.1007/s00428-019-02660-3. ISSN 0945-6317. Check date values in: |date= (help)
↑ Dagrada, Gian P; et al. (2015-08). "Solitary fibrous tumors: loss of chimeric protein expression and genomic instability mark dedifferentiation". Modern Pathology. 28 (8): 1074–1083. doi:10.1038/modpathol.2015.70. Check date values in: |date= (help)
↑ Kurisaki-Arakawa, Aiko; et al. (2014-11). "A case of dedifferentiated solitary fibrous tumor in the pelvis with TP53 mutation". Virchows Archiv: An International Journal of Pathology. 465 (5): 615–621. doi:10.1007/s00428-014-1625-3. ISSN 1432-2307. PMID 25015562. Check date values in: |date= (help)
↑ Nonaka, Haruna; et al. (2021). "Case Report: Molecular Characterization of Aggressive Malignant Retroperitoneal Solitary Fibrous Tumor: A Case Study". Frontiers in Oncology. 11: 736969. doi:10.3389/fonc.2021.736969. ISSN 2234-943X. PMC 8727594 Check |pmc= value (help). PMID 35004271 Check |pmid= value (help).
↑ Kouba, Erik; et al. (2017-06-01). "Solitary fibrous tumour of the genitourinary tract: a clinicopathological study of 11 cases and their association with the NAB2-STAT6 fusion gene". Journal of Clinical Pathology. 70 (6): 508–514. doi:10.1136/jclinpath-2016-204088. ISSN 0021-9746. PMID 27802414.

Notes

*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 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): *Citation of this Page: “Solitary fibrous tumour”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated 11/23/2025, https://ccga.io/index.php/STBT5:Solitary fibrous tumour.

[1] Chmielecki, Juliann; et al. (2013-02). "Whole-exome sequencing identifies a recurrent NAB2-STAT6 fusion in solitary fibrous tumors". Nature Genetics. 45 (2): 131–132. doi:10.1038/ng.2522. ISSN 1061-4036. Check date values in: |date= (help)

[:4-2] 2.0 ^2.1 Mohajeri, Arezoo; et al. (2013-10). "Comprehensive genetic analysis identifies a pathognomonic NAB2/STAT6 fusion gene, nonrandom secondary genomic imbalances, and a characteristic gene expression profile in solitary fibrous tumor". Genes, Chromosomes and Cancer. 52 (10): 873–886. doi:10.1002/gcc.22083. ISSN 1045-2257. Check date values in: |date= (help)

[:5-3] 3.0 ^3.1 Robinson, Dan R; et al. (2013-02). "Identification of recurrent NAB2-STAT6 gene fusions in solitary fibrous tumor by integrative sequencing". Nature Genetics. 45 (2): 180–185. doi:10.1038/ng.2509. ISSN 1061-4036. Check date values in: |date= (help)

[4] Huang, Shih‐Chiang; et al. (2016-02). "The clinicopathological significance of NAB 2‐ STAT 6 gene fusions in 52 cases of intrathoracic solitary fibrous tumors". Cancer Medicine. 5 (2): 159–168. doi:10.1002/cam4.572. ISSN 2045-7634. Check date values in: |date= (help)

[5] Vogels, Rob JC; et al. (2014-12). "Solitary fibrous tumor – clinicopathologic, immunohistochemical and molecular analysis of 28 cases". Diagnostic Pathology. 9 (1). doi:10.1186/s13000-014-0224-6. ISSN 1746-1596. Check date values in: |date= (help)

[:0-6] 6.0 ^6.1 ^6.2 Akaike, Keisuke; et al. (2015-03). "Distinct clinicopathological features of NAB2-STAT6 fusion gene variants in solitary fibrous tumor with emphasis on the acquisition of highly malignant potential". Human Pathology. 46 (3): 347–356. doi:10.1016/j.humpath.2014.11.018. Check date values in: |date= (help)

[:1-7] 7.0 ^7.1 ^7.2 ^7.3 Park, Hyung Kyu; et al. (2019). "Molecular changes in solitary fibrous tumor progression". Journal of Molecular Medicine (Berlin, Germany). 97 (10): 1413–1425. doi:10.1007/s00109-019-01815-8. ISSN 0946-2716. PMC 6746689. PMID 31321477.

[:3-8] 8.0 ^8.1 Bahrami, Armita; et al. (2016-12). "TERT promoter mutations and prognosis in solitary fibrous tumor". Modern Pathology. 29 (12): 1511–1522. doi:10.1038/modpathol.2016.126. Check date values in: |date= (help)

[9] Killela, Patrick J.; et al. (2013-04-09). "TERT promoter mutations occur frequently in gliomas and a subset of tumors derived from cells with low rates of self-renewal". Proceedings of the National Academy of Sciences. 110 (15): 6021–6026. doi:10.1073/pnas.1303607110. ISSN 0027-8424. PMC 3625331. PMID 23530248.CS1 maint: PMC format (link)

[10] Koelsche, Christian; et al. (2014-12). "TERT promoter hotspot mutations are recurrent in myxoid liposarcomas but rare in other soft tissue sarcoma entities". Journal of Experimental & Clinical Cancer Research. 33 (1). doi:10.1186/1756-9966-33-33. ISSN 1756-9966. Check date values in: |date= (help)

[:2-11] Demicco, Elizabeth G.; et al. (2018-11). "TERT promoter mutations in solitary fibrous tumour". Histopathology. 73 (5): 843–851. doi:10.1111/his.13703. ISSN 1365-2559. PMID 29985536. Check date values in: |date= (help)

[:6-12] 12.0 ^12.1 Yao, Chen-chen; et al. (2024-01-04). "Prognostic analysis of extrameningeal solitary fibrous tumor using the modified Demicco model: a clinicopathologic study of 111 Chinese cases". Frontiers in Oncology. 13. doi:10.3389/fonc.2023.1272090. ISSN 2234-943X.

[13] Machado, Isidro; et al. (2020-04). "Solitary fibrous tumor: a case series identifying pathological adverse factors—implications for risk stratification and classification". Virchows Archiv. 476 (4): 597–607. doi:10.1007/s00428-019-02660-3. ISSN 0945-6317. Check date values in: |date= (help)

[14] Dagrada, Gian P; et al. (2015-08). "Solitary fibrous tumors: loss of chimeric protein expression and genomic instability mark dedifferentiation". Modern Pathology. 28 (8): 1074–1083. doi:10.1038/modpathol.2015.70. Check date values in: |date= (help)

[15] Kurisaki-Arakawa, Aiko; et al. (2014-11). "A case of dedifferentiated solitary fibrous tumor in the pelvis with TP53 mutation". Virchows Archiv: An International Journal of Pathology. 465 (5): 615–621. doi:10.1007/s00428-014-1625-3. ISSN 1432-2307. PMID 25015562. Check date values in: |date= (help)

[16] Nonaka, Haruna; et al. (2021). "Case Report: Molecular Characterization of Aggressive Malignant Retroperitoneal Solitary Fibrous Tumor: A Case Study". Frontiers in Oncology. 11: 736969. doi:10.3389/fonc.2021.736969. ISSN 2234-943X. PMC 8727594 Check |pmc= value (help). PMID 35004271 Check |pmid= value (help).

[17] Kouba, Erik; et al. (2017-06-01). "Solitary fibrous tumour of the genitourinary tract: a clinicopathological study of 11 cases and their association with the NAB2-STAT6 fusion gene". Journal of Clinical Pathology. 70 (6): 508–514. doi:10.1136/jclinpath-2016-204088. ISSN 0021-9746. PMID 27802414.

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@@ Line 47: / Line 47: @@
 !Clinical Relevance Details/Other Notes
 |-
-|N/A
+|''NAB2''
-|''NAB2''-''STAT6''
+|''STAT6''
-|Paracentric inversion results in the fusion.<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>{{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>  The fusion is thought to convert wildtype NAB2 from a transcriptional repressor of EGR1-mediated signalling into a transcriptional activator via replacement of the C-terminal repression domain by the transcriptional activation domain of STAT6, thereby resulting in a feedforward loop of constitutive EGR1-mediated transactivation of proliferation and survival-associated growth factors, including ''IGF2'' and ''FGFR1''. <ref name=":5" />
+|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
 |Y (WHO)
-|''NAB2''-''STAT6'' gene fusions are pathognomonic for SFT. Many different breakpoints in the exons and introns are associated with this fusion. Ex: ''NAB2''ex4-''STAT6''ex2; ''NAB2''ex6-''STAT6''ex16/17.
+|''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" />
 |}
@@ Line 106: / Line 106: @@
 |Promoter mutations
 |Oncogene
-|Common<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=Liu|first=Xiaoli|last2=Bishop|first2=Justin|last3=Shan|first3=Yuan|last4=Pai|first4=Sara|last5=Liu|first5=Dingxie|last6=Murugan|first6=Avaniyapuram Kannan|last7=Sun|first7=Hui|last8=El-Naggar|first8=Adel K|last9=Xing|first9=Mingzhao|date=2013-08|title=Highly prevalent TERT promoter mutations in aggressive thyroid cancers|url=https://erc.bioscientifica.com/view/journals/erc/20/4/603.xml|journal=Endocrine-Related Cancer|volume=20|issue=4|pages=603–610|doi=10.1530/ERC-13-0210|issn=1351-0088|pmc=PMC3782569|pmid=23766237}}</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>
+|Common
-|P<ref name=":0" /><ref name=":3" /><ref name=":2" /><ref>{{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=2019-10|title=Molecular changes in solitary fibrous tumor progression|url=https://pubmed.ncbi.nlm.nih.gov/31321477|journal=Journal of Molecular Medicine (Berlin, Germany)|volume=97|issue=10|pages=1413–1425|doi=10.1007/s00109-019-01815-8|issn=1432-1440|pmc=6746689|pmid=31321477}}</ref><ref>{{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://pubmed.ncbi.nlm.nih.gov/27562490|journal=Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc|volume=29|issue=12|pages=1511–1522|doi=10.1038/modpathol.2016.126|issn=1530-0285|pmc=5731237|pmid=27562490}}</ref>
+|P
 |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''
 <br />
-|Deletions or mutations
+|Missense or fram-shift mutation in exon 5 or exon 6 <ref name=":3" />
 |Tumor Supressor Gene
-|Common<ref name=":4">{{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=2023|title=Prognostic analysis of extrameningeal solitary fibrous tumor using the modified Demicco model: a clinicopathologic study of 111 Chinese cases|url=https://pubmed.ncbi.nlm.nih.gov/38239634|journal=Frontiers in Oncology|volume=13|pages=1272090|doi=10.3389/fonc.2023.1272090|issn=2234-943X|pmc=PMC10796168|pmid=38239634}}</ref><ref name=":1" />
+|Common
-|P<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=https://pubmed.ncbi.nlm.nih.gov/31529158|journal=Virchows Archiv: An International Journal of Pathology|volume=476|issue=4|pages=597–607|doi=10.1007/s00428-019-02660-3|issn=1432-2307|pmid=31529158}}</ref><ref name=":4" />
+|P
 |No
-|Single base pair substitution have been identified in exon 5 or exon 6 of TP53. <ref name=":3" /> Mutations of TP53 have been associated with malignant and dedifferentiated SFTs.<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://pubmed.ncbi.nlm.nih.gov/26022454|journal=Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc|volume=28|issue=8|pages=1074–1083|doi=10.1038/modpathol.2015.70|issn=1530-0285|pmid=26022454}}</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>
+|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>
 |-
-|''ARAF1''
+|''APAF1''
-|
+|LOF mutation<ref name=":1" />
 |Other
 |Common
-|P<ref name=":1" />
+|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.
+|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.
@@ Line 151: / Line 143: @@
 ==Genetic Diagnostic Testing Methods==
-# Fusion testing
+# '''Fusion testing'''
-#* Next generation sequencing (NGS) using mRNA to detect the ''NAB2::STAT6'' fusion
+#* Next generation sequencing (NGS) using mRNA targeting the fusion
-#* Breakpoint fluorescence in situ hybridization (FISH) probe for ''STAT6''
 #* Dual color dual fusion 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''
+# '''Immunohistochemistry testing'''
 #* Immunohistochemistry testing, STAT6 (signal transducer and activator of transcription 6) immunostain
 #** nuclear staining

STBT5:Solitary fibrous tumour: Difference between revisions

Revision as of 16:06, 23 November 2025

Contents

Primary Author(s)*

WHO Classification of Disease

Related Terminology

Gene Rearrangements

Individual Region Genomic Gain/Loss/LOH

Characteristic Chromosomal or Other Global Mutational Patterns

Gene Mutations (SNV/INDEL)

Epigenomic Alterations

Genes and Main Pathways Involved

Genetic Diagnostic Testing Methods

Familial Forms

Additional Information

Links

References

Notes

Navigation menu

STBT5:Solitary fibrous tumour: Difference between revisions

Revision as of 16:06, 23 November 2025

Primary Author(s)*

WHO Classification of Disease

Related Terminology

Gene Rearrangements

Individual Region Genomic Gain/Loss/LOH

Characteristic Chromosomal or Other Global Mutational Patterns

Gene Mutations (SNV/INDEL)

Epigenomic Alterations

Genes and Main Pathways Involved

Genetic Diagnostic Testing Methods

Familial Forms

Additional Information

Links

References

Notes

Navigation menu

Search