Difference between revisions of "STBT5:Solitary fibrous tumour"

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==Definition / Description of Disease==
 
==Definition / Description of Disease==
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>
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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==
Put your text here <span style="color:#0070C0">(''Instructions: Include currently used terms and major historical ones, adding “(historical)” after the latter.'') </span>
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Formerly SFTs were categorized as hemangiopericytomas.  
 
==Epidemiology / Prevalence==
 
==Epidemiology / Prevalence==
Put your text here
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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 />
 
{| class="wikitable"
 
{| class="wikitable"
 
|'''Signs and Symptoms'''
 
|'''Signs and Symptoms'''
|<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.
<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
  
<span class="blue-text">EXAMPLE:</span> Lymphadenopathy (uncommon)
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Head/Neck: Dysphonia, nasal obstruction, dysphagia
 
|-
 
|-
 
|'''Laboratory Findings'''
 
|'''Laboratory Findings'''
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|}
 
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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==
Put your text here <span style="color:#0070C0">(''Instructions: Brief description of typically approximately one paragraph'') </span>
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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
 
|-
 
|-
|Positive (universal)||<span class="blue-text">EXAMPLE:</span> CD1
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|Positive (universal)||CD34
 
|-
 
|-
|Positive (subset)||
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|Positive (universal)||STAT6 (nuclear)
 
|-
 
|-
 
|Negative (universal)||
 
|Negative (universal)||
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!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)
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|inv(12)(q13q13)||3'STAT6 / 5'NAB2||NA||55-100%
<span class="blue-text">EXAMPLE:</span> 30% (add reference)
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|Yes  
|<span class="blue-text">EXAMPLE:</span> Yes
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|Unknown
|<span class="blue-text">EXAMPLE:</span> No
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|No
|<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
|<span class="blue-text">EXAMPLE:</span>
 
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).
 
 
|}
 
|}
 
==Individual Region Genomic Gain / Loss / LOH==
 
==Individual Region Genomic Gain / Loss / LOH==
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>
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 +
 
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Not Applicable
 
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|-
 
|-
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==Characteristic Chromosomal Patterns==
 
==Characteristic Chromosomal Patterns==
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>
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 +
 
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Not Applicable
 
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{| class="wikitable sortable"
 
|-
 
|-
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!Notes
 
!Notes
 
|-
 
|-
|<span class="blue-text">EXAMPLE:</span> ''TP53''; Variable LOF mutations
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|
<span class="blue-text">EXAMPLE:</span>
 
 
 
''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> 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==
Put your text here
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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
 
|-
 
|-
|<span class="blue-text">EXAMPLE:</span> ''BRAF'' and ''MAP2K1''; Activating mutations
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|NAB2::STAT6; Activating mutation
|<span class="blue-text">EXAMPLE:</span> MAPK signaling
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|EGR Pathway
|<span class="blue-text">EXAMPLE:</span> Increased cell growth and proliferation
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|Increased activation of EGR1
 
|-
 
|-
 
|<span class="blue-text">EXAMPLE:</span> ''CDKN2A''; Inactivating mutations
 
|<span class="blue-text">EXAMPLE:</span> ''CDKN2A''; Inactivating mutations

Revision as of 17:01, 27 February 2024

(General Instructions – The main focus of these pages is the clinically significant genetic alterations in each disease type. Use HUGO-approved gene names and symbols (italicized when appropriate), 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 Author_Instructions and FAQs as well as contact your Associate Editor or Technical Support)

Primary Author(s)*

Reba Daniel and Shashi Shetty

WHO Classification of Disease

Structure Disease
Book WHO Classification of Soft Tissue and Bone Tumours (5th Edition)
Category Soft tissue tumours
Family Fibroblastic and myofibroblastic tumours
Type Solitary fibrous tumour
Subtype(s) None

Definition / Description of Disease

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

Formerly SFTs were categorized as hemangiopericytomas.

Epidemiology / Prevalence

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


Signs and Symptoms SFTs present as slow-growing, painless neoplasms. Clinical symptoms can be due to mass effect in the site of involvement.

e.g. Abdomen/Pelvis: abdominal distention, constipation, urinary retention

Head/Neck: Dysphonia, nasal obstruction, dysphagia

Laboratory Findings EXAMPLE: Cytopenias

EXAMPLE: Lymphocytosis (low level)

Sites of Involvement

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

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

Put your text here and fill in the table (Instruction: Can include references in the table. Do not delete table.)

Finding Marker
Positive (universal) CD34
Positive (universal) STAT6 (nuclear)
Negative (universal)
Negative (subset)

Chromosomal Rearrangements (Gene Fusions)

Put your text here and fill in the table (Instruction: Can include references in the table. Do not delete table.)

Chromosomal Rearrangement Genes in Fusion (5’ or 3’ Segments) Pathogenic Derivative Prevalence Diagnostic Significance (Yes, No or Unknown) Prognostic Significance (Yes, No or Unknown) Therapeutic Significance (Yes, No or Unknown) Notes
inv(12)(q13q13) 3'STAT6 / 5'NAB2 NA 55-100% Yes Unknown No 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

Not Applicable

Chr # Gain / Loss / Amp / LOH Minimal Region Genomic Coordinates [Genome Build] Minimal Region Cytoband Diagnostic Significance (Yes, No or Unknown) Prognostic Significance (Yes, No or Unknown) Therapeutic Significance (Yes, No or Unknown) Notes
EXAMPLE:

7

EXAMPLE: Loss EXAMPLE:

chr7:1-159,335,973 [hg38]

EXAMPLE:

chr7

EXAMPLE: Yes EXAMPLE: Yes EXAMPLE: No EXAMPLE:

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).

EXAMPLE:

8

EXAMPLE: Gain EXAMPLE:

chr8:1-145,138,636 [hg38]

EXAMPLE:

chr8

EXAMPLE: No EXAMPLE: No EXAMPLE: No EXAMPLE:

Common recurrent secondary finding for t(8;21) (add reference).

Characteristic Chromosomal Patterns

Not Applicable

Chromosomal Pattern Diagnostic Significance (Yes, No or Unknown) Prognostic Significance (Yes, No or Unknown) Therapeutic Significance (Yes, No or Unknown) Notes
EXAMPLE:

Co-deletion of 1p and 18q

EXAMPLE: Yes EXAMPLE: No EXAMPLE: No EXAMPLE:

See chromosomal rearrangements table as this pattern is due to an unbalanced derivative translocation associated with oligodendroglioma (add reference).

Gene Mutations (SNV / INDEL)

Put your text here and fill in the table (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.)

Gene; Genetic Alteration Presumed Mechanism (Tumor Suppressor Gene [TSG] / Oncogene / Other) Prevalence (COSMIC / TCGA / Other) Concomitant Mutations Mutually Exclusive Mutations Diagnostic Significance (Yes, No or Unknown) Prognostic Significance (Yes, No or Unknown) Therapeutic Significance (Yes, No or Unknown) Notes
EXAMPLE: TSG EXAMPLE: 20% (COSMIC)

EXAMPLE: 30% (add Reference)

EXAMPLE: IDH1 R123H EXAMPLE: EGFR amplification EXAMPLE: Yes EXAMPLE: No EXAMPLE: No EXAMPLE: 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

Not Applicable

Genes and Main Pathways Involved

Put your text here and fill in the table (Instructions: Can include references in the table. Do not delete table.)

Gene; Genetic Alteration Pathway Pathophysiologic Outcome
NAB2::STAT6; Activating mutation EGR Pathway Increased activation of EGR1
EXAMPLE: CDKN2A; Inactivating mutations EXAMPLE: Cell cycle regulation EXAMPLE: Unregulated cell division
EXAMPLE: KMT2C and ARID1A; Inactivating mutations EXAMPLE: Histone modification, chromatin remodeling EXAMPLE: Abnormal gene expression program

Genetic Diagnostic Testing Methods

Put your text here

Familial Forms

Put your text here (Instructions: Include associated hereditary conditions/syndromes that cause this entity or are caused by this entity.)

Additional Information

Put your text here

Links

(use the "Link" icon that looks like two overlapping circles at the top of the page) (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 "http://www." portion.)

References

(use the "Cite" icon at the top of the page) (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. 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.)

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 CCGA coordinators (contact information provided on the homepage). Additional global feedback or concerns are also welcome.