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BioMed Research International
Volume 2014, Article ID 363540, 7 pages
http://dx.doi.org/10.1155/2014/363540
Research Article

MYD88 L265P Mutations Are Correlated with 6q Deletion in Korean Patients with Waldenström Macroglobulinemia

1Department of Laboratory Medicine, Seoul National University College of Medicine, 101 Daehangno, Jongno-gu, Seoul 110-744, Republic of Korea
2Cancer Research Institute, Seoul National University College of Medicine, Seoul, Republic of Korea
3Department of Laboratory Medicine, Seoul National University Bundang Hospital, Seongnam, Republic of Korea
4Hematology Division, National Hospital Organization Disaster Medical Center, Tokyo, Japan
5Department of Internal Medicine, Seoul National University College of Medicine, Seoul, Republic of Korea

Received 21 February 2014; Revised 14 April 2014; Accepted 14 April 2014; Published 7 May 2014

Academic Editor: Wee-Joo Chng

Copyright © 2014 Jung-Ah Kim et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Waldenström macroglobulinemia (WM) is a malignant lymphoplasma-proliferative disorder with IgM monoclonal gammopathy. A recent whole-genome study identified MYD88 L265P as the key mutation in WM. We investigated MYD88 mutations in conjunction with cytogenetic study in 22 consecutive Korean WM patients. Conventional G-banding and interphase fluorescence in situ hybridization (FISH) were performed at regions including 6q21 using bone marrow (BM) aspirates. Sixteen patients were subjected to Sanger sequencing-based MYD88 mutation study. Five patients (28%) showed cytogenetic aberrations in G-banding. The incidence of 6q21 deletion was 17% by conventional G-banding and 37% by FISH. Ten patients (45%) showed cytogenetic aberrations using FISH: 6q deletion in eight (37%) and IGH rearrangement in four (18%). Two patients had both the 6q deletion and IGH rearrangement, and two had only the IGH rearrangement. Eleven patients (69%) presented with the MYD88 L265P mutation. MYD88 mutations were significantly associated with the presence of 6q deletions (). Six patients with the 6q deletion for whom sequencing was possible were found to harbor MYD88 mutations. The MYD88 L265P mutation was also associated with increased lymphocyte burden in BM biopsy. This is the first report of high frequency MYD88 L265P mutations in Korean WM patients.