Compendium of Cancer Genome Aberrations

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STBT5:Solitary fibrous tumour (view source)

Revision as of 17:05, 27 February 2024

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==Definition / Description of Disease==
 
==Definition / Description of Disease==
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Solitary fibrous tumor (SFT) is a mesenchymal spindle cell neoplasm that can develop at any site in the body, including soft tissue, visceral organs, bone, etc.  It was first described by Klemperer and Rabin in 1992 as a tumor of the pleura. However, since then this entity has been increasingly described from extrapleural sites. A morphologic clue to the diagnosis is the distinctive branching “staghorn” vessels. SFT is characterized by ''NAB2::STAT6'' fusion resulting from a paracentric inversion at chromosome 12q13q13.
 
==Synonyms / Terminology==
 
==Synonyms / Terminology==
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Formerly SFTs were categorized as hemangiopericytomas.  
 
==Epidemiology / Prevalence==
 
==Epidemiology / Prevalence==
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SFT occurs most commonly in adults with no gender predilection. Incidence of the tumor is highest in the age group of 40-70 years.
 
==Clinical Features==
 
==Clinical Features==
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<br />
 
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|'''Signs and Symptoms'''
 
|'''Signs and Symptoms'''
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|<span class="blue-text">EXAMPLE:</span> Asymptomatic (incidental finding on complete blood counts)
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|SFTs present as slow-growing, painless neoplasms. Clinical symptoms can be due to mass effect in the site of involvement.
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<span class="blue-text">EXAMPLE:</span> B-symptoms (weight loss, fever, night sweats)
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e.g. Abdomen/Pelvis: abdominal distention, constipation, urinary retention
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<span class="blue-text">EXAMPLE:</span> Lymphadenopathy (uncommon)
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Head/Neck: Dysphonia, nasal obstruction, dysphagia
 
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|'''Laboratory Findings'''
 
|'''Laboratory Findings'''
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==Sites of Involvement==
 
==Sites of Involvement==
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SFTs may occur at any site of the body. Involvement of head and neck, deep soft tissues, abdominal cavity, retroperitoneum, pelvis, bone, and visceral organs have been reported.
 
==Morphologic Features==
 
==Morphologic Features==
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Morphologically, biopsy or resection specimens will show a bland spindle cell proliferation arranged haphazardly in a background of collagenous stroma. Cells contain ovoid nuclei within eosinophilic cytoplasm with indistinct cell borders. Tumors can vary in cellularity and stromal collagen. On low power, branching, “staghorn” shaped vessels can often be appreciated. Mitotic counts are usually low. Myxoid and lipomatous change have been described. SFT with adipocytic component are referred to as fat-forming (lipomatous) SFTs. There is also a variant known as giant cell rich SFT, which has the classic patternless spindle cell proliferation admixed with multinucleated giant cells. Dedifferentiated SFTs will show conventional SFT transitioning to a high-grade pleomorphic variant. Heterologous elements may be present. Standard immunophenotypic expression of CD34 and STAT6 is often lost in the dedifferentiated component.
 
==Immunophenotype==
 
==Immunophenotype==
 
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!Finding!!Marker
 
!Finding!!Marker
 
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|Positive (universal)||<span class="blue-text">EXAMPLE:</span> CD1
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|Positive (universal)||CD34
 
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|Positive (subset)||
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|Positive (universal)||STAT6 (nuclear)
 
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|Negative (universal)||
 
|Negative (universal)||
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!Notes
 
!Notes
 
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|<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)
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|inv(12)(q13q13)||3'STAT6 / 5'NAB2||NA||55-100%
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<span class="blue-text">EXAMPLE:</span> 30% (add reference)
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|Yes
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|<span class="blue-text">EXAMPLE:</span> Yes
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|Unknown
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|<span class="blue-text">EXAMPLE:</span> No
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|No
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|<span class="blue-text">EXAMPLE:</span> Yes
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|Many different breakpoints in the exons and introns are associated with this fusion. Ex: ''NAB2''ex4-''STAT6''ex2; ''NAB2''ex6-''STAT6''ex16/17
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|<span class="blue-text">EXAMPLE:</span>
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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).
   
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==Individual Region Genomic Gain / Loss / LOH==
 
==Individual Region Genomic Gain / Loss / LOH==
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Not Applicable
 
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==Characteristic Chromosomal Patterns==
 
==Characteristic Chromosomal Patterns==
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Not Applicable
 
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!Notes
 
!Notes
 
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|<span class="blue-text">EXAMPLE:</span> ''TP53''; Variable LOF mutations
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|
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<span class="blue-text">EXAMPLE:</span>
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''EGFR''; Exon 20 mutations
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<span class="blue-text">EXAMPLE:</span> ''BRAF''; Activating mutations
   
|<span class="blue-text">EXAMPLE:</span> TSG
 
|<span class="blue-text">EXAMPLE:</span> TSG
 
|<span class="blue-text">EXAMPLE:</span> 20% (COSMIC)
 
|<span class="blue-text">EXAMPLE:</span> 20% (COSMIC)
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|}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.
 
|}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==
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Not Applicable
 
==Genes and Main Pathways Involved==
 
==Genes and Main Pathways Involved==
 
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!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome
 
!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome
 
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|<span class="blue-text">EXAMPLE:</span> ''BRAF'' and ''MAP2K1''; Activating mutations
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|NAB2::STAT6; Activating mutation
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|<span class="blue-text">EXAMPLE:</span> MAPK signaling
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|EGR Pathway
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|<span class="blue-text">EXAMPLE:</span> Increased cell growth and proliferation
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|Increased activation of EGR1
 
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|<span class="blue-text">EXAMPLE:</span> ''CDKN2A''; Inactivating mutations
 
|<span class="blue-text">EXAMPLE:</span> ''CDKN2A''; Inactivating mutations
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==Genetic Diagnostic Testing Methods==
 
==Genetic Diagnostic Testing Methods==
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Ancillary studies such as immunohistochemistry and molecular tests are useful in differentiating soft tissue tumors. SFTs have historically been diagnosed by morphology and strong diffuse CD34 positivity. Additional immunohistochemical phenotype previously used for identification included expression of Bcl2, CD99, and vimentin and absence of expression of epithelial, muscle, and neural markers. However, the introduction of STAT6 (signal transducer and activator of transcription 6) immunostain now dominates due to its high sensitivity and specificity. STAT6 expression is demonstrated by nuclear staining. Molecular testing by next generation sequencing is also highly useful in detecting the NAB2::STAT6 fusion. Breakapart fluorescence in situ hybridization (FISH) probe for STAT6 can detect rearrangement of this gene.  In the context of SFT, the rearrangement of the ''STAT6'' gene is highly suggestive for the presence of ''NAB2-STAT6'' fusion. [https://pubmed.ncbi.nlm.nih.gov/27802414/ A dual color dual fusion probe targeting both genes would be a direct confirmation for ''NAB2-STAT6'' fusion.]
 
==Familial Forms==
 
==Familial Forms==
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Not Applicable
 
==Additional Information==
 
==Additional Information==
 
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Put your text here
Reba.Daniel
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