Cytogenetics Laboratory, Department of Pathology, Singapore General Hospital, Singapore.
Chin Med J (Engl). 2013;126(10):1872-7.
Much is known about the cytogenetic lesions that characterize multiple myeloma (MM) patients from the USA, Europe, and East Asia. However, little has been published about the disease among Southeast Asians. The aim of this study was to determine the chromosomal abnormalities of MM patients in our Singapore population.
Forty-five newly-diagnosed, morphologically confirmed patients comprising 18 males and 27 females, aged 46 - 84 years (median 65 years) were investigated by karyotyping and fluorescence in situ hybridization (FISH). FISH employing standard panel probes and 1p36/1q21 and 6q21/15q22 probes was performed on diagnostic bone marrow samples.
Thirty-four cases (75.6%) had karyotypic abnormalities. Including FISH, a total detection rate of 91.1% was attained. Numerical and complex structural aberrations were common to both hyperdiploid and non-hyperdiploid patients. Numerical gains of several recurring chromosomes were frequent among hyperdiploid patients while structural rearrangements of several chromosomes including 8q24.1 and 14q32 characterized non-hyperdiploid patients. With FISH, immunoglobulin heavy chain (IGH) gene rearrangements, especially fibroblast growth factor receptor 3 (FGFR3)/IGH and RB1 deletion/monosomy 13 were the most common abnormalities (43.4%). Amplification 1q21 was 10 times more frequent (42.5%) than del(1p36) and del(6q21).
We have successfully reported the comprehensive cytogenetic profiling of a cohort of newly-diagnosed myeloma patients in our population. This study indicates that the genetic and cytogenetic abnormalities, and their frequencies, in our study group are generally similar to other populations.
在美国、欧洲和东亚，人们对多发性骨髓瘤（MM）患者的细胞遗传学病变有了很多了解。然而，关于东南亚人群中的这种疾病，发表的内容却很少。本研究旨在确定我们新加坡人群中 MM 患者的染色体异常。
对 45 例新诊断的、形态学确诊的患者进行了研究，这些患者包括 18 名男性和 27 名女性，年龄 46-84 岁（中位年龄 65 岁），通过核型分析和荧光原位杂交（FISH）进行检测。采用标准面板探针和 1p36/1q21 和 6q21/15q22 探针对诊断性骨髓样本进行 FISH 检测。
34 例（75.6%）存在核型异常。包括 FISH 在内，总检出率达到 91.1%。高倍体和非高倍体患者均常见染色体数目和复杂结构异常。高倍体患者中常出现多个重复染色体的数目增益，而非高倍体患者中常出现包括 8q24.1 和 14q32 在内的多个染色体结构重排。通过 FISH，免疫球蛋白重链（IGH）基因重排，尤其是成纤维细胞生长因子受体 3（FGFR3）/IGH 和 RB1 缺失/单体型 13，是最常见的异常（43.4%）。1q21 扩增的频率是 1p36 缺失和 6q21 缺失的 10 倍。
我们成功地报告了我们人群中一组新诊断骨髓瘤患者的全面细胞遗传学分析。本研究表明，我们研究组中的遗传和细胞遗传学异常及其频率与其他人群基本相似。
