title: 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.
abstract: 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).
authors.affiliation: Department of Laboratory Medicine, Seoul National University College of Medicine, 101 Daehakro, Jongno-gu, Seoul 110-744, Korea.
authors.forename: Hye Ryun
authors.initials: HR
authors.lastname: Lee
authors.forename: Bora
authors.initials: B
authors.lastname: Oh
authors.forename: Dae Sik
authors.initials: DS
authors.lastname: Hong
authors.forename: Dae Young
authors.initials: DY
authors.lastname: Zang
authors.forename: Hwi-Joong
authors.initials: HJ
authors.lastname: Yoon
authors.forename: Hyeoung Joon
authors.initials: HJ
authors.lastname: Kim
authors.forename: Inho
authors.initials: I
authors.lastname: Kim
authors.forename: Jae-Sook
authors.initials: JS
authors.lastname: Ahn
authors.forename: June-Won
authors.initials: JW
authors.lastname: Cheong
authors.forename: Kyung-A
authors.initials: KA
authors.lastname: Lee
authors.forename: Kyung Sam
authors.initials: KS
authors.lastname: Cho
authors.forename: Mark Hong
authors.initials: MH
authors.lastname: Lee
authors.forename: Soo-Mee
authors.initials: SM
authors.lastname: Bang
authors.forename: Tae Young
authors.initials: TY
authors.lastname: Kim
authors.forename: Yeo-Min
authors.initials: YM
authors.lastname: Yun
authors.forename: Yoo Hong
authors.initials: YH
authors.lastname: Min
authors.forename: You Kyoung
authors.initials: YK
authors.lastname: Lee
authors.forename: Dong Soon
authors.initials: DS
authors.lastname: Lee
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002875:Chromosomes / Q000648:ultrastructure*; D002895:Chromosomes, Human, Pair 5; D003582:Cytogenetics; D005260:Female; D005819:Genetic Markers; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D007723:Korea; D019041:L-Selectin / Q000378:metabolism; D007963:Leukocytes, Mononuclear / Q000166:cytology; D008213:Lymphocyte Activation; D008297:Male; D008875:Middle Aged; D009190:Myelodysplastic Syndromes / Q000208:ethnology / Q000235:genetics*; D013601:T-Lymphocytes / Q000166:cytology
chemical_list: D005819:Genetic Markers; D019041:L-Selectin