Elnahass Yasser, Youssif Lamiaa
Department of Clinical Pathology, National Cancer Institute, Cairo University, Cairo, Egypt.
Department of Molecular Diagnostics, Genetic Engineering and Biotechnology Research Institute, University of Sadat City, Sadat City, Menoufia Province, Egypt.
J Adv Res. 2018 Feb 7;10:77-83. doi: 10.1016/j.jare.2018.02.002. eCollection 2018 Mar.
Karyotype is the most important diagnostic and prognostic parameter in myelodysplastic syndromes (MDS) and is abnormal in approximately 50% of patients. We emphasized the importance of chromosomal analysis and reported the most frequent cytogenetic abnormalities in 50 MDS (29 males (58%) and 21 females (42%), median age: 57.5 years) Egyptian patients using conventional banding analysis (CBA). Karyotype description was conducted according to the International System for Human Cytogenetic Nomenclature (ISCN, 2013). Patients were diagnosed based on complete history, bone marrow (BM) aspirate, peripheral blood (PBL) examination, and Iron stain. MDS with multilineage dysplasia (MDS-MLD) was the most frequently encountered subtype; 19/50 (38%) followed by MDS with single lineage dysplasia (MDS-SLD); 11/50 (22%). 27/50 patients (54%) showed a normal karyotype while 23 patients (46%) showed clonal nonrandom chromosomal abnormalities. Most patients with MDS with excess blasts-II (MDS-EB-II) showed abnormal karyotype (3/4; 75%) followed by MDS-EB-I (3/5, 60%) and MDS-MLD (10/19, 53%). Among 50 primary MDS patients; 14/50 (28%) had a single chromosomal abnormality, 3/50 (6%) had double chromosomal abnormality, and 6/50 (12%) had complex karyotype. Male sex was more frequently associated with higher IPSS prognostic risk categories than female gender. The most common single chromosomal abnormalities were -5/del5q; 7/50 (14%) patients followed by -7; 4/50 (8%) patients. +8, del20q and delY were each detected in 1/50 patient (2%). Abnormalities of chromosome 5 (-5/del5q) as a single chromosomal abnormality was the most frequent chromosomal abnormality among Egyptian primary MDS patients followed by complex karyotype. Cytogenetic characteristics of MDS Egyptian patients were similar to North African and European patients. Karyotype offers useful information in establishing accurate diagnosis and male gender is an important predisposing factor that can predict worse prognosis in MDS patients.
核型是骨髓增生异常综合征（MDS）最重要的诊断和预后参数，约50%的患者核型异常。我们强调了染色体分析的重要性，并报告了50例埃及MDS患者（29例男性（58%）和21例女性（42%），中位年龄：57.5岁）使用传统显带分析（CBA）时最常见的细胞遗传学异常。核型描述根据国际人类细胞遗传学命名系统（ISCN，2013）进行。患者根据完整病史、骨髓（BM）穿刺、外周血（PBL）检查和铁染色进行诊断。多系发育异常的MDS（MDS-MLD）是最常见的亚型；19/50（38%），其次是单系发育异常的MDS（MDS-SLD）；11/50（22%）。27/50例患者（54%）核型正常，23例患者（46%）显示克隆性非随机染色体异常。大多数伴有过多原始细胞-II的MDS（MDS-EB-II）患者核型异常（3/4；75%），其次是MDS-EB-I（3/5，60%）和MDS-MLD（10/19，53%）。在50例原发性MDS患者中；14/50（28%）有单一染色体异常，3/50（6%）有双重染色体异常，6/50（12%）有复杂核型。男性比女性更常与较高的IPSS预后风险类别相关。最常见的单一染色体异常是-5/del5q；7/50（14%）的患者，其次是-7；4/50（8%）的患者。+8、del20q和delY在1/50例患者（2%）中均有检测到。染色体5异常（-5/del5q）作为单一染色体异常是埃及原发性MDS患者中最常见的染色体异常，其次是复杂核型。埃及MDS患者的细胞遗传学特征与北非和欧洲患者相似。核型在建立准确诊断方面提供了有用信息，男性性别是一个重要的易感因素，可预测MDS患者预后较差。
