Solitary fibrous tumour

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

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
N/A NAB2-STAT6 Paracentric inversion results in the fusion.[1][2][3][4][5][6] 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. [3] 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: NAB2ex4-STAT6ex2; NAB2ex6-STAT6ex16/17.

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[8][9][10][11][12] P[6][8][12][13][14] No
TP53


Deletions or mutations Tumor Supressor Gene Common[15][7] P[16][15] No Single base pair substitution have been identified in exon 5 or exon 6 of TP53. [8] Mutations of TP53 have been associated with malignant and dedifferentiated SFTs.[17][18][19]
ARAF1 Other Common P[7] 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.

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

  1. Fusion testing
    • Next generation sequencing (NGS) using mRNA to detect the NAB2::STAT6 fusion
    • Breakpoint fluorescence in situ hybridization (FISH) probe for STAT6
    • Dual color dual fusion probe targeting both genes[20]
      • a direct confirmation for NAB2::STAT6 fusion
    • 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

  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)
  2. ↑ 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. ↑ 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)
  6. ↑ 6.0 6.1 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. ↑ 7.0 7.1 7.2 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. ↑ 8.0 8.1 8.2 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. ↑ Liu, Xiaoli; et al. (2013-08). "Highly prevalent TERT promoter mutations in aggressive thyroid cancers". Endocrine-Related Cancer. 20 (4): 603–610. doi:10.1530/ERC-13-0210. ISSN 1351-0088. PMC 3782569. PMID 23766237. Check date values in: |date= (help)CS1 maint: PMC format (link)
  10. ↑ 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)
  11. ↑ 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)
  12. ↑ 12.0 12.1 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)
  13. ↑ Park, Hyung Kyu; et al. (2019-10). "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 1432-1440. PMC 6746689. PMID 31321477. Check date values in: |date= (help)
  14. ↑ Bahrami, Armita; et al. (2016-12). "TERT promoter mutations and prognosis in solitary fibrous tumor". Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc. 29 (12): 1511–1522. doi:10.1038/modpathol.2016.126. ISSN 1530-0285. PMC 5731237. PMID 27562490. Check date values in: |date= (help)
  15. ↑ 15.0 15.1 Yao, Chen-Chen; et al. (2023). "Prognostic analysis of extrameningeal solitary fibrous tumor using the modified Demicco model: a clinicopathologic study of 111 Chinese cases". Frontiers in Oncology. 13: 1272090. doi:10.3389/fonc.2023.1272090. ISSN 2234-943X. PMC PMC10796168 Check |pmc= value (help). PMID 38239634 Check |pmid= value (help).CS1 maint: PMC format (link)
  16. ↑ Machado, Isidro; et al. (2020-04). "Solitary fibrous tumor: a case series identifying pathological adverse factors-implications for risk stratification and classification". Virchows Archiv: An International Journal of Pathology. 476 (4): 597–607. doi:10.1007/s00428-019-02660-3. ISSN 1432-2307. PMID 31529158. Check date values in: |date= (help)
  17. ↑ Dagrada, Gian P.; et al. (2015-08). "Solitary fibrous tumors: loss of chimeric protein expression and genomic instability mark dedifferentiation". Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc. 28 (8): 1074–1083. doi:10.1038/modpathol.2015.70. ISSN 1530-0285. PMID 26022454. Check date values in: |date= (help)
  18. ↑ 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)
  19. ↑ 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).
  20. ↑ 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.

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