PMID- 24895570
OWN - NLM
STAT- MEDLINE
DCOM- 20150114
LR  - 20220330
IS  - 2314-6141 (Electronic)
IS  - 2314-6133 (Print)
VI  - 2014
DP  - 2014
TI  - MYD88 L265P mutations are correlated with 6q deletion in Korean patients with 
      Waldenstrom macroglobulinemia.
PG  - 363540
LID - 10.1155/2014/363540 [doi]
LID - 363540
AB  - Waldenstrom 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 (P = 0.037). 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.
FAU - Kim, Jung-Ah
AU  - Kim JA
AD  - Department of Laboratory Medicine, Seoul National University College of Medicine, 
      101 Daehangno, Jongno-gu, Seoul 110-744, Republic of Korea.
FAU - Im, Kyongok
AU  - Im K
AD  - Cancer Research Institute, Seoul National University College of Medicine, Seoul, 
      Republic of Korea.
FAU - Park, Si Nae
AU  - Park SN
AUID- ORCID: 0000-0002-6455-1528
AD  - Cancer Research Institute, Seoul National University College of Medicine, Seoul, 
      Republic of Korea.
FAU - Kwon, Jiseok
AU  - Kwon J
AD  - Cancer Research Institute, Seoul National University College of Medicine, Seoul, 
      Republic of Korea.
FAU - Choi, Qute
AU  - Choi Q
AD  - Department of Laboratory Medicine, Seoul National University College of Medicine, 
      101 Daehangno, Jongno-gu, Seoul 110-744, Republic of Korea.
FAU - Hwang, Sang Mee
AU  - Hwang SM
AUID- ORCID: 0000-0003-3390-1932
AD  - Department of Laboratory Medicine, Seoul National University College of Medicine, 
      101 Daehangno, Jongno-gu, Seoul 110-744, Republic of Korea ; Department of 
      Laboratory Medicine, Seoul National University Bundang Hospital, Seongnam, 
      Republic of Korea.
FAU - Sekiguchi, Naohiro
AU  - Sekiguchi N
AUID- ORCID: 0000-0001-9860-8257
AD  - Hematology Division, National Hospital Organization Disaster Medical Center, 
      Tokyo, Japan.
FAU - Yoon, Sung-Soo
AU  - Yoon SS
AD  - Department of Internal Medicine, Seoul National University College of Medicine, 
      Seoul, Republic of Korea.
FAU - Lee, Dong Soon
AU  - Lee DS
AD  - Department of Laboratory Medicine, Seoul National University College of Medicine, 
      101 Daehangno, Jongno-gu, Seoul 110-744, Republic of Korea ; Cancer Research 
      Institute, Seoul National University College of Medicine, Seoul, Republic of 
      Korea.
FAU - Kim, Seon Young
AU  - Kim SY
AUID- ORCID: 0000-0001-5459-9635
AD  - Department of Laboratory Medicine, Seoul National University College of Medicine, 
      101 Daehangno, Jongno-gu, Seoul 110-744, Republic of Korea.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20140507
PL  - United States
TA  - Biomed Res Int
JT  - BioMed research international
JID - 101600173
RN  - 0 (Genetic Markers)
RN  - 0 (MYD88 protein, human)
RN  - 0 (Myeloid Differentiation Factor 88)
SB  - IM
MH  - Adult
MH  - Aged
MH  - Aged, 80 and over
MH  - Female
MH  - Genetic Association Studies
MH  - Genetic Markers/genetics
MH  - Genetic Predisposition to Disease/*genetics
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Mutation/genetics
MH  - Myeloid Differentiation Factor 88/*genetics
MH  - Polymorphism, Single Nucleotide/*genetics
MH  - Republic of Korea/epidemiology
MH  - Risk Assessment
MH  - Statistics as Topic
MH  - Waldenstrom Macroglobulinemia/*diagnosis/*genetics
PMC - PMC4033400
EDAT- 2014/06/05 06:00
MHDA- 2015/01/15 06:00
PMCR- 2014/05/07
CRDT- 2014/06/05 06:00
PHST- 2014/02/21 00:00 [received]
PHST- 2014/04/14 00:00 [revised]
PHST- 2014/04/14 00:00 [accepted]
PHST- 2014/06/05 06:00 [entrez]
PHST- 2014/06/05 06:00 [pubmed]
PHST- 2015/01/15 06:00 [medline]
PHST- 2014/05/07 00:00 [pmc-release]
AID - 10.1155/2014/363540 [doi]
PST - ppublish
SO  - Biomed Res Int. 2014;2014:363540. doi: 10.1155/2014/363540. Epub 2014 May 7.