Compendium of Cancer Genome Aberrations

HAEM5:Subcutaneous panniculitis-like T-cell lymphoma: Difference between revisions

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==Genetic Diagnostic Testing Methods==
==Genetic Diagnostic Testing Methods==
PCR
'''Molecular Genetic Testing'''


NGS  
# Polymerase Chain Reaction (PCR) and droplet digital PCR (ddPCR): To confirm or detect presence of the HAVCR2 p.Y82C variant and detection of TCRB rearrangements '''(major diagnostic criteria)'''.
# Next generation sequencing (NGS)- whole exome sequencing and whole genome sequencing.
# Sanger sequencing- to confirm or detect HAVCR2 mutations.


WES
Put your text here <span style="color:#0070C0">(''Instructions: Include recommended testing type(s) to identify the clinically significant genetic alterations.'')</span>
==Familial Forms==
==Familial Forms==
Biallelic germline mutations in HAVCR2 are inherited in an autosomal recessive pattern predominantly in individuals with East Asian ancestry.<ref name=":1" /><ref name=":0" /><ref name=":4" />  
Biallelic germline mutations in HAVCR2 are inherited in an autosomal recessive pattern predominantly in individuals with East Asian ancestry.<ref name=":1" /><ref name=":0" /><ref name=":4" />  
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''Immunohistochemical profile'': Subcutaneous panniculitis like T-cell lymphoma is a rare cytotoxic (CD3+, CD4-, CD8+, granzyme B +) T-cell lymphoma with atypical T-cells infiltrating subcutaneous tissue and rimming adipocytes in a "lace-like" pattern<ref name=":5" /><ref name=":6">{{Cite journal|last=Parveen|first=Zahida|last2=Thompson|first2=Karen|date=2009-02|title=Subcutaneous panniculitis-like T-cell lymphoma: redefinition of diagnostic criteria in the recent World Health Organization-European Organization for Research and Treatment of Cancer classification for cutaneous lymphomas|url=https://pubmed.ncbi.nlm.nih.gov/19195975|journal=Archives of Pathology & Laboratory Medicine|volume=133|issue=2|pages=303–308|doi=10.5858/133.2.303|issn=1543-2165|pmid=19195975}}</ref>. In one study, expression of CCR4 and FOXP3 was increased in tumor cells in sporadic cases with HAVCR2 wild-type genotypes.<ref name=":4" />
''Immunohistochemical profile'': Subcutaneous panniculitis like T-cell lymphoma is a rare cytotoxic (CD3+, CD4-, CD8+, granzyme B +) T-cell lymphoma with atypical T-cells infiltrating subcutaneous tissue and rimming adipocytes in a "lace-like" pattern<ref name=":5" /><ref name=":6">{{Cite journal|last=Parveen|first=Zahida|last2=Thompson|first2=Karen|date=2009-02|title=Subcutaneous panniculitis-like T-cell lymphoma: redefinition of diagnostic criteria in the recent World Health Organization-European Organization for Research and Treatment of Cancer classification for cutaneous lymphomas|url=https://pubmed.ncbi.nlm.nih.gov/19195975|journal=Archives of Pathology & Laboratory Medicine|volume=133|issue=2|pages=303–308|doi=10.5858/133.2.303|issn=1543-2165|pmid=19195975}}</ref>. In one study, expression of CCR4 and FOXP3 was increased in tumor cells in sporadic cases with HAVCR2 wild-type genotypes.<ref name=":4" />


Subcutaneous panniculitis like T-cell lymphoma is defined with an alphabeta T-cell receptor rearrangement<ref name=":6" />.   
A major diagnostic criteria for subcutaneous panniculitis like T-cell lymphoma is presence of an αβ T-cell receptor rearrangement and absence of the λδ T-cell receptor rearrangement. <ref name=":6" />.   


==Links==
==Links==
Retrieved from "https://test.ccga.io/index.php/HAEM5:Subcutaneous_panniculitis-like_T-cell_lymphoma"