Compendium of Cancer Genome Aberrations

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{{DISPLAYTITLE:Solitary fibrous tumour}}
{{DISPLAYTITLE:Solitary fibrous tumour}}
[[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.)]]


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|N/A
|N/A
|}
|}
==Related Terminology==


==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<ref>{{Cite journal|last=Klemperer|first=Paul|last2=Rabin|first2=Coleman B.|date=1992-01|title=Primary Neoplasms of the pleura. A report of five cases|url=https://onlinelibrary.wiley.com/doi/10.1002/ajim.4700220103|journal=American Journal of Industrial Medicine|language=en|volume=22|issue=1|pages=4–31|doi=10.1002/ajim.4700220103|issn=0271-3586}}</ref> 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 small paracentric inversion at chromosome 12q13.
==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==
<br />
{| class="wikitable"
{| class="wikitable"
|'''Signs and Symptoms'''
|+
|SFTs present as slow-growing, painless neoplasms. Clinical symptoms can be due to mass effect in the site of involvement.
|Acceptable
e.g. Abdomen/Pelvis: abdominal distention, constipation, urinary retention
|
 
Head/Neck: Dysphonia, nasal obstruction, dysphagia
|-
|-
|'''Laboratory Findings'''
|Not Recommended
|
|
|}
|}
==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<ref>Goldblum, John R, et al. ''Enzinger & Weiss’s Soft Tissue Tumors''. 7th ed., Philadelphia, PA, Elsevier, 2020, pp. 1133–1147.</ref>==
Put your text here and fill in the table <span style="color:#0070C0">(''Instruction: Can include references in the table. Do not delete table.'') </span>
{| class="wikitable sortable"
|-
!Finding!!Marker
|-
|Positive||CD34
|-
|Positive||STAT6 (nuclear)
|-
|Positive||BCL2 (30%)
|-
|Positive||CD99 (70%)
|-
|Positive
|EMA (30%)
|-
|Positive
|Actin (20%)
|-
|Negative
|S100
|-
|Negative
|Desmin
|-
|Negative
|Cytokeratins
|}
==Gene Rearrangements==
==Gene Rearrangements==
Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Details on clinical significance such as prognosis and other important information can be provided in the notes section. Please include references throughout the table. Do not delete the table.'')</span>
Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Details on clinical significance such as prognosis and other important information can be provided in the notes section. Please include references throughout the table. Do not delete the table.'')</span>
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{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!Chr #!!'''Gain, Loss, Amp, LOH'''!!'''Minimal Region Cytoband and/or Genomic Coordinates [Genome Build; Size]'''!!'''Relevant Gene(s)'''
!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'''
!Diagnostic, Prognostic, and Therapeutic Significance - D, P, T
!'''Established Clinical Significance Per Guidelines - Yes or No (Source)'''
!Established Clinical Significance Per Guidelines - Yes or No (Source)
!'''Clinical Relevance Details/Other Notes'''
!Clinical Relevance Details/Other Notes
|-
|-
|<span class="blue-text">EXAMPLE:</span>
|<span class="blue-text">EXAMPLE:</span>
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!Chromosomal Pattern
!Chromosomal Pattern
!Molecular Pathogenesis
!Molecular Pathogenesis
!'''Prevalence -'''
!Prevalence -  
'''Common >20%, Recurrent 5-20% or Rare <5% (Disease)'''
Common >20%, Recurrent 5-20% or Rare <5% (Disease)
!'''Diagnostic, Prognostic, and Therapeutic Significance - D, P, T'''
!Diagnostic, Prognostic, and Therapeutic Significance - D, P, T
!'''Established Clinical Significance Per Guidelines - Yes or No (Source)'''
!Established Clinical Significance Per Guidelines - Yes or No (Source)
!'''Clinical Relevance Details/Other Notes'''
!Clinical Relevance Details/Other Notes
|-
|-
|<span class="blue-text">EXAMPLE:</span>
|<span class="blue-text">EXAMPLE:</span>
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{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!Gene!!'''Genetic Alteration'''!!'''Tumor Suppressor Gene, Oncogene, Other'''!!'''Prevalence -'''
!Gene!!Genetic Alteration!!Tumor Suppressor Gene, Oncogene, Other!!Prevalence -
'''Common >20%, Recurrent 5-20% or Rare <5% (Disease)'''
Common >20%, Recurrent 5-20% or Rare <5% (Disease)
!'''Diagnostic, Prognostic, and Therapeutic Significance - D, P, T  '''
!Diagnostic, Prognostic, and Therapeutic Significance - D, P, T  
!'''Established Clinical Significance Per Guidelines - Yes or No (Source)'''
!Established Clinical Significance Per Guidelines - Yes or No (Source)
!'''Clinical Relevance Details/Other Notes'''
!Clinical Relevance Details/Other Notes
|-
|-
|<span class="blue-text">EXAMPLE:</span>''EGFR''
|<span class="blue-text">EXAMPLE:</span>''EGFR''
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{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!Gene; Genetic Alteration!!'''Presumed Mechanism (Tumor Suppressor Gene [TSG] / Oncogene / Other)'''!!'''Prevalence (COSMIC /  TCGA / Other)'''!!'''Concomitant Mutations'''!!'''Mutually Exclusive Mutations'''
!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)'''
!Diagnostic Significance (Yes, No or Unknown)
!Prognostic Significance (Yes, No or Unknown)
!Prognostic Significance (Yes, No or Unknown)
!Therapeutic Significance (Yes, No or Unknown)
!Therapeutic Significance (Yes, No or Unknown)
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|
|
|}
|}




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==Additional Information==
==Additional Information==


This disease is <u>defined/characterized</u> as detailed below:
*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<ref>{{Cite journal|last=Klemperer|first=Paul|last2=Rabin|first2=Coleman B.|date=1992-01|title=Primary Neoplasms of the pleura. A report of five cases|url=https://onlinelibrary.wiley.com/doi/10.1002/ajim.4700220103|journal=American Journal of Industrial Medicine|language=en|volume=22|issue=1|pages=4–31|doi=10.1002/ajim.4700220103|issn=0271-3586}}</ref> 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 small paracentric inversion at chromosome 12q13.
The <u>epidemiology/prevalence</u> of this disease is detailed below:
*SFT occurs most commonly in adults with no gender predilection. Incidence of the tumor is highest in the age group of 40-70 years.
The <u>clinical features</u> of this disease are detailed below:
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 - N/A
The <u>sites of involvement</u> of this disease are detailed below:
*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.
The <u>morphologic features</u> of this disease are detailed below:
*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.
The <u>immunophenotype</u> of this disease is detailed below:
Positive - CD34, STAT6 (nuclear), BCL2 (30%), CD99 (70%), EMA (30%) and Actin (20%)<ref name=":5">Goldblum, John R, et al. ''Enzinger & Weiss’s Soft Tissue Tumors''. 7th ed., Philadelphia, PA, Elsevier, 2020, pp. 1133–1147.</ref>
Negative - S100, Desmin and Cytokeratins<ref name=":5" />


Put your text here
==Links==
==Links==
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==References==
==References==
(use the "Cite" icon at the top of the page) <span style="color:#0070C0">(''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.''</span> <span style="color:#0070C0">''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''</span><span style="color:#0070C0">''.''</span><span style="color:#0070C0">) </span>
(use the "Cite" icon at the top of the page) <span style="color:#0070C0">(''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.''</span> <span style="color:#0070C0">''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''</span><span style="color:#0070C0">''.''</span><span style="color:#0070C0">) </span><references />
 
==Notes==
==Notes==


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Prior Author(s):
Prior Author(s):
<references />
 
<nowiki>*</nowiki>''Citation of this Page'': “Solitary fibrous tumour”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/STBT5:Solitary fibrous tumour</nowiki>.
<nowiki>*</nowiki>''Citation of this Page'': “Solitary fibrous tumour”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/STBT5:Solitary fibrous tumour</nowiki>.
[[Category:STBT5]][[Category:DISEASE]][[Category:Diseases S]]
[[Category:STBT5]]
[[Category:DISEASE]]
[[Category:Diseases S]]
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