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Cytogenetic features of 5q deletion and 5q- syndrome in myelodysplastic syndrome in Korea; marker chromosomes proved to be chromosome 5 with interstitial deletion by fluorescence in situ hybridization

 Hye Ryun Lee  ;  Bora Oh  ;  Dae Sik Hong  ;  Dae Young Zang  ;  Hwi-Joong Yoon  ;  Hyeoung Joon Kim  ;  Inho Kim  ;  Jae-Sook Ahn  ;  June-Won Cheong  ;  Kyung-A Lee  ;  Kyung Sam Cho  ;  Mark Hong Lee  ;  Soo-Mee Bang  ;  Tae Young Kim  ;  Yeo-Min Yun  ;  Yoo Hong Min  ;  You Kyoung Lee  ;  Dong Soon Lee 
 CANCER GENETICS AND CYTOGENETICS , Vol.203(2) : 193-202, 2010 
Journal Title
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Adult ; Aged ; Aged, 80 and over ; Chromosome Deletion* ; Chromosome Mapping ; Chromosomes/ultrastructure* ; Chromosomes, Human, Pair 5* ; Cytogenetics* ; Female ; Genetic Markers* ; Humans ; In Situ Hybridization, Fluorescence/methods* ; Korea ; L-Selectin/metabolism ; Leukocytes, Mononuclear/cytology ; Lymphocyte Activation ; Male ; Middle Aged ; Myelodysplastic Syndromes/ethnology ; Myelodysplastic Syndromes/genetics* ; T-Lymphocytes/cytology
We characterized the cytogenetic changes and prognostic characteristics of 133 Korean patients with myelodysplastic syndrome (MDS), focusing on 5q- syndrome and MDS with chromosome abnormalities involving 5q deletion according to World Health Organization 2008 classification. In all patients, G banding and fluorescence in situ hybridization for 5q were performed, and in MDS patients with 5q deletion, the deleted region on chromosome 5 was mapped with fluorescence in situ hybridization for EGR1, CSF1R, and PDGFRB. The frequency of isolated del(5q) syndrome and 5q deletion was 2.2% (3 of 137 patients) and 15.3% (21 of 137 patients), respectively. International Prognostic Scoring System (IPSS) groups were low risk (5.8%), intermediate 1 (51.1%), intermediate 2 (27.8%), and high risk (15.3%). The patients with del(5q) were significantly older (62 years) and showed an unfavorable survival compared to patients without del(5q). Half (53%) of the patients with del(5q) also had complex chromosome abnormalities, including chromosome 7 abnormalities. Of the patients with del(5q), 93.3% were deleted for all three regions on 5q, compared to 66.7% of patients with isolated del(5q). Marker chromosomes proved to be chromosome 5 with interstitial deletion of q arm by fluorescence in situ hybridization in three patients. The biological characteristics of MDS in Korea seem to be markedly different from those of Caucasians, with Koreans having a younger age, lower frequencies of 5q- syndrome, higher frequencies of complex cytogenetic abnormalities including del(5q), and poorer prognosis. We infer that additional chromosome abnormalities contribute to the adverse prognostic impact in patients with del(5q).
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1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
Yonsei Authors
Min, Yoo Hong(민유홍) ORCID logo https://orcid.org/0000-0001-8542-9583
Lee, Kyung A(이경아) ORCID logo https://orcid.org/0000-0001-5320-6705
Cheong, June-Won(정준원) ORCID logo https://orcid.org/0000-0002-1744-0921
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