Rammal Souraya, Abou Abdallah Farid, Attieh Charbel, El Mounajjed Zeinab, Semaan Warde, Chebly Alain
Faculty of Medicine, Saint Joseph University of Beirut (USJ), Beirut, Lebanon.
Center Jacques Loiselet for Medical Genetics and Genomics (CGGM), Faculty of Medicine, Saint Joseph University of Beirut (USJ), Beirut, Lebanon.
Front Oncol. 2024 Oct 24;14:1480793. doi: 10.3389/fonc.2024.1480793. eCollection 2024.
Conventional cytogenetic analysis is an important tool for the diagnosis of many hematologic disorders (HD). A karyotype is designed as « complex » when several alterations are detected. However, there is no clear consensus on the exact definition of a complex karyotype (CK), and there is a lack of studies that exclusively analyze CK in the literature. Complex karyotypes were analyzed over a period of 12 years at the Jacques Loiselet Center for Medical Genetics and Genomics (CGGM) at Saint Joseph University in Beirut (USJ) in Lebanon. 255 CK were analyzed with their associated chromosomal abnormalities (CA) detected. Out of 255 patients, 59.22% were males with a mean age of 59 years. The most common anomaly associated with CK was hyperdiploidy with a prevalence of 22.41%, which is different from a previously published study. To our knowledge, this represents the largest series of CK, particularly within the Middle East region. This study underscores the critical role of conventional cytogenetics in detecting CK, ultimately contributing to improved management of HD. Further investigations focusing on CK are needed.
传统细胞遗传学分析是诊断许多血液系统疾病（HD）的重要工具。当检测到几种改变时，核型被定义为“复杂”。然而，对于复杂核型（CK）的确切定义尚无明确共识，且文献中缺乏专门分析CK的研究。在黎巴嫩贝鲁特圣约瑟夫大学（USJ）的雅克·洛塞莱医学遗传学和基因组学中心（CGGM），对12年间的复杂核型进行了分析。分析了255例CK及其检测到的相关染色体异常（CA）。在255例患者中，59.22%为男性，平均年龄59岁。与CK相关的最常见异常是超二倍体，患病率为22.41%，这与之前发表的研究不同。据我们所知，这是最大的CK系列研究，特别是在中东地区。本研究强调了传统细胞遗传学在检测CK中的关键作用，最终有助于改善HD的管理。需要进一步针对CK展开研究。
