MYD88 and CXCR4 Mutation Profiling in Lymphoplasmacytic Lymphoma/Waldenstrom's Macroglobulinaemia.
CXCR4
LPL/WM
Lymphoplasmacytic lymphoma
MYD88
Waldenstrom’s macroglobulinaemia
Journal
Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion
ISSN: 0971-4502
Titre abrégé: Indian J Hematol Blood Transfus
Pays: India
ID NLM: 9425818
Informations de publication
Date de publication:
Jan 2019
Jan 2019
Historique:
received:
09
05
2018
accepted:
26
06
2018
entrez:
5
3
2019
pubmed:
5
3
2019
medline:
5
3
2019
Statut:
ppublish
Résumé
Recurrent mutations affecting MYD88 and CXCR4 gene nowadays form the basis for the diagnosis, risk stratification and use of inhibitors targeting these signalling pathways in LPL/WM which are rare B cell neoplasms. MYD88 L265P mutation analysis was performed on 33 cases of LPL/WM by AS-PCR (positivity-84.8%, n = 28/33) and by Sanger sequencing (positivity-39.3%, n = 13/33). We had only two cases with CXCR4 non-sense (NS) mutation (p.S338*) using Sanger sequencing. MYD88 (L265P) mutation detection by AS-PCR can form reliable biomarker for the diagnosis of LPL/WM in molecular labs. Although the cohort is small, still the CXCR4 mutation frequency in our study is low as compared to the published literature.
Identifiants
pubmed: 30828149
doi: 10.1007/s12288-018-0978-1
pii: 978
pmc: PMC6369099
doi:
Types de publication
Journal Article
Langues
eng
Pagination
57-65Déclaration de conflit d'intérêts
All authors declare that they have no conflict of interest.This study was approved by the Ethics Committee and Institutional Review Board (EC/TMC/83/16) of the Tata Medical Center, Kolkata, India.
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