HAEM5:Subcutaneous panniculitis-like T-cell lymphoma: Difference between revisions
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==Genetic Diagnostic Testing Methods== | ==Genetic Diagnostic Testing Methods== | ||
'''Molecular | '''Molecular Testing to detect detect clonal TCRB rearrangements:''' | ||
# Polymerase Chain Reaction (PCR) | # Polymerase Chain Reaction (PCR) fragment analysis '''(major diagnostic criteria)'''<ref name=":6" /> | ||
# Next generation sequencing (NGS)- whole exome sequencing and whole genome sequencing. | |||
'''Molecular Genetic Testing for HAVCR2 variants:''' | |||
# Next generation sequencing (NGS)- whole exome sequencing and whole genome sequencing. | |||
# Sanger sequencing- to confirm or detect HAVCR2 mutations. | # Sanger sequencing- to confirm or detect HAVCR2 mutations. | ||
# Droplet digital PCR (ddPCR): to confirm or detect presence of the HAVCR2 p.Y82C variant<ref>{{Cite journal|last=Cheng|first=Jinjun|last2=Xi|first2=Liqiang|last3=Jang|first3=Yoon|last4=Kim|first4=Jung|last5=Wang|first5=Hao-Wei|last6=Pittaluga|first6=Stefania|last7=Jaffe|first7=Elaine S.|last8=Raffeld|first8=Mark|date=2024-10-01|title=An investigation of germline variants of HAVCR2 in subcutaneous panniculitis-like T-cell lymphoma and related lesions in a North American population|url=https://pubmed.ncbi.nlm.nih.gov/38867583|journal=Haematologica|volume=109|issue=10|pages=3363–3367|doi=10.3324/haematol.2023.284738|issn=1592-8721|pmc=11443401|pmid=38867583}}</ref> | |||
==Familial Forms== | ==Familial Forms== | ||