Kosztolányi Szabolcs, Horváth Bálint, Hosnyánszki Diána, Kereskai László, Sziládi Erzsébet, Jáksó Pál, Alizadeh Hussain, Szuhai Károly, Alpár Donát, Kajtár Béla
I. Belgyógyászati Klinika, Pécsi Tudományegyetem, Általános Orvostudományi Kar, Klinikai Központ Pécs.
Pathologiai Intézet, Pécsi Tudományegyetem, Általános Orvostudományi Kar, Klinikai Központ Pécs, Szigeti út 12., 7624.
Orv Hetil. 2019 Jun;160(24):944-951. doi: 10.1556/650.2019.31357.
Plasma cell myeloma is a hematological malignancy with heterogeneous genomic landscape and diverse clinical course. Recurrent chromosomal and subchromosomal aberrations commonly occur in this entity and are associated with the pathogenesis and progression of the disease. The identification of these alterations aids genetic characterization, classification and prognostication of patients. Molecular cytogenetic investigations of plasma cell myeloma patients treated at the University of Pécs Clinical Center and János Balassa County Hospital of Tolna County, Szekszárd, between 2005 and 2018 were evaluated in our study. 231 patients were screened for genetic aberrations using fluorescence hybridization. Translocations involving the immunoglobulin heavy chain gene, losses of 1p and 17p chromosome arms, gains of 1q chromosome arm and unbalanced aberrations of chromosome 13 were investigated. Losses and gains of 1p, 1q, 5q, 12p, 13q, 16q and 17p chromosome arms were analyzed using multiplex ligation-dependent probe amplification in 42 patients. During the investigated period, 116 bone marrow karyotyping was also performed. In total, 233 genetic aberrations were identified using our targeted approaches; the frequency of specific aberrations correlated with data of the recent literature. Concordance of results gained by fluorescence hybridization and multiplex ligation-dependent probe amplification was 96.2% by analyzing the same chromosome arms. The latter technique revealed 21 additional genetic aberrations in 16/42 patient samples (38%) as compared to fluorescence hybridization. Our results suggest that the combined application of the two molecular cytogenetic methods may facilitate a more detailed characterization of genetic aberrations of plasma cell myeloma patients in Hungary. Orv Hetil. 2019; 160(24): 944-951.
浆细胞骨髓瘤是一种血液系统恶性肿瘤，具有异质性的基因组格局和多样的临床病程。复发性染色体和亚染色体畸变在该疾病中普遍存在，并与疾病的发病机制和进展相关。这些改变的鉴定有助于对患者进行基因特征分析、分类和预后评估。我们的研究评估了2005年至2018年间在佩奇大学临床中心和托尔瑙县塞克萨德的扬·巴拉萨县医院接受治疗的浆细胞骨髓瘤患者的分子细胞遗传学情况。使用荧光杂交技术对231例患者进行了基因畸变筛查。研究了涉及免疫球蛋白重链基因的易位、1号和17号染色体臂缺失、1号染色体臂增益以及13号染色体的不平衡畸变。使用多重连接依赖探针扩增技术对42例患者的1号、1号、5号、12号、13号、16号和17号染色体臂的缺失和增益情况进行了分析。在研究期间，还进行了116次骨髓核型分析。通过我们的靶向方法共鉴定出233种基因畸变；特定畸变的频率与近期文献数据相关。通过分析相同的染色体臂，荧光杂交和多重连接依赖探针扩增所获得结果的一致性为96.2%。与荧光杂交相比，后一种技术在16/42例患者样本（38%）中发现了另外21种基因畸变。我们的结果表明，这两种分子细胞遗传学方法的联合应用可能有助于更详细地描述匈牙利浆细胞骨髓瘤患者的基因畸变情况。《匈牙利医学周报》。2019年；160(24): 944 - 951。
