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
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

57-65

Déclaration 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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Auteurs

Sushant Vinarkar (S)

1Department of Laboratory Haematology and Molecular Genetics, Tata Medical Center, 14 MAR (EW), New Town, Rajarhat, Kolkata, 700156 India.

Neeraj Arora (N)

1Department of Laboratory Haematology and Molecular Genetics, Tata Medical Center, 14 MAR (EW), New Town, Rajarhat, Kolkata, 700156 India.

Sourav Sarma Chowdhury (SS)

1Department of Laboratory Haematology and Molecular Genetics, Tata Medical Center, 14 MAR (EW), New Town, Rajarhat, Kolkata, 700156 India.

Kallol Saha (K)

1Department of Laboratory Haematology and Molecular Genetics, Tata Medical Center, 14 MAR (EW), New Town, Rajarhat, Kolkata, 700156 India.

Biswajoy Pal (B)

1Department of Laboratory Haematology and Molecular Genetics, Tata Medical Center, 14 MAR (EW), New Town, Rajarhat, Kolkata, 700156 India.

Mayur Parihar (M)

2Department of Laboratory Haematology and Cytogenetics, Tata Medical Center, Kolkata, India.

Vivek S Radhakrishnan (VS)

3Department of Clinical Haematology, Tata Medical Center, Kolkata, India.

Anupam Chakrapani (A)

4Apollo Gleneagles Hospital, Kolkata, India.

Shilpa Bhartia (S)

4Apollo Gleneagles Hospital, Kolkata, India.

Saurabh Bhave (S)

3Department of Clinical Haematology, Tata Medical Center, Kolkata, India.

Mammen Chandy (M)

3Department of Clinical Haematology, Tata Medical Center, Kolkata, India.

Reena Nair (R)

3Department of Clinical Haematology, Tata Medical Center, Kolkata, India.

Deepak Kumar Mishra (DK)

1Department of Laboratory Haematology and Molecular Genetics, Tata Medical Center, 14 MAR (EW), New Town, Rajarhat, Kolkata, 700156 India.

Classifications MeSH