title: Identification of 13q deletion, trisomy 1q, and IgH rearrangement as the most frequent chromosomal changes found in Korean patients with multiple myeloma.
abstract: The most frequent genetic aberrations in multiple myeloma (MM) are 13q deletions and translocations involving the immunoglobulin heavy chain gene (IGH). There have been no reports on the cytogenetic abnormalities found in Korean patients with MM. We investigated the actual prevalence and prognostic value of cytogenetic changes using fluorescence in situ hybridization (FISH). FISH studies with 12 different specific probes for the regions containing the genes or chromosome regions (13q, 1q, IGH, p53, MLL, p16, CEP 7, CEP 11, and CEP 12) were performed in 128 patients. The most frequent change found was 13q deletion (48%), followed by trisomy 1q (45%), IGH translocation (37%), and trisomy 11 (26%). Among the three different probes used to detect 13q deletion, D13S25 (48/58) was the most sensitive probe compared to RB (43/58) and D13S319 (39/58). Among the patients showing one or more changes by FISH, 75% (82/110) had a 13q deletion, a trisomy 1q, or an IGH translocation. Azotemia, anemia, thrombocytopenia, intramedullary plasmacytosis, and stage were significantly associated with the 13q deletion; serum beta(2)-microglobulin, thrombocytopenia, and intramedullary plasmacytosis were also related to trisomy 1q. The pattern of molecular cytogenetic changes in Korean patients with MM is somewhat different from what has been observed in reported Caucasian populations: 37 versus 50-70% with regard to the IGH translocation. The prevalence of the 13q deletion was similar in Korean and Caucasian populations, 48 versus 30-50%. We suggest that the detection of at least these three genetic changes, 13q- trisomy 1q, and an IGH rearrangement, would be helpful for follow-up of Korean patients with MM.
authors.affiliation: Department of Internal Medicine, Gachon Medical School, Gil Medical Center, 1198 Guwol-dong, Namdong-gu, Incheon 405-760, Korea.
authors.forename: Soo-Mee
authors.initials: SM
authors.lastname: Bang
authors.forename: Young Ree
authors.initials: YR
authors.lastname: Kim
authors.forename: Han Ik
authors.initials: HI
authors.lastname: Cho
authors.forename: Hyun Sook
authors.initials: HS
authors.lastname: Chi
authors.forename: Eul-Ju
authors.initials: EJ
authors.lastname: Seo
authors.forename: Chan Jeoung
authors.initials: CJ
authors.lastname: Park
authors.forename: Soo Jin
authors.initials: SJ
authors.lastname: Yoo
authors.forename: Hee Chan
authors.initials: HC
authors.lastname: Kim
authors.forename: Hong Gu
authors.initials: HG
authors.lastname: Chun
authors.forename: Hyun Chung
authors.initials: HC
authors.lastname: Min
authors.forename: Bo Ra
authors.initials: BR
authors.lastname: Oh
authors.forename: Tae Young
authors.initials: TY
authors.lastname: Kim
authors.forename: Jae Hoon
authors.initials: JH
authors.lastname: Lee
authors.forename: Dong Soon
authors.initials: DS
authors.lastname: Lee
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D044466:Asian People / Q000235:genetics*; D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D005260:Female; D015326:Gene Rearrangement, B-Lymphocyte, Heavy Chain / Q000235:genetics*; D006801:Humans; D007136:Immunoglobulins / Q000235:genetics; D017404:In Situ Hybridization, Fluorescence; D007399:Interphase; D007621:Karyotyping; D007723:Korea; D008297:Male; D008875:Middle Aged; D009101:Multiple Myeloma / Q000208:ethnology / Q000235:genetics*; D011003:Ploidies; D012044:Regression Analysis; D012680:Sensitivity and Specificity; D016019:Survival Analysis; D014314:Trisomy / Q000235:genetics*; D014407:Tumor Cells, Cultured
chemical_list: D007136:Immunoglobulins