Waheed Samra, Hassan Jawad, Naz Maliha, Maqsood Sidra, Abid Madiha, Shan Saira, Nadeem Muhammad, Shamsi Tahir S
National Institute of Blood Disease and Bone Marrow Transplantation, Karachi, Pakistan.
J Oncol. 2018 Jun 3;2018:2019239. doi: 10.1155/2018/2019239. eCollection 2018.
Most of the hematological disorders are heterogenous with regard to morphology, immunophenotype, and genetic rearrangements. Multiple recurrent chromosomal aberrations have been identified by conventional cytogenetic analysis, which is now widely recognized as one of the most important diagnostic and prognostic determinants in these patients. Though rarer, complex karyotype has been associated with worst prognosis.
A total of 1185 bone marrow or peripheral blood cytogenetics samples were taken with different hematological diseases. They included both benign and malignant disease entities. In each case, cells were cultured and conventional cytogenetic analysis was performed.
Among 1185 subjects, 41 (3.4%) patients possessed complex cytogenetic abnormalities. Out of these 41, 33 (80%) were males. The mean age was 37 years (median age 39 years). Myelodysplastic syndromes had the most numbers of complex karyotypes (8%), followed by acute myeloid leukemia (7%) and acute lymphoblastic leukemia (4%). Also we found few patients with acute promyelocytic leukemia, aplastic anemia , chronic myeloid leukemia, and diffuse large B cell Lymphoma possessing complex karyotype. Frequencies of different cytogenetic abnormalities were assessed with respect to disease as well as independently. Trisomy 21 was the most common chromosomal abnormality found in 28% of patients.
Complex karyotype was most frequently associated with myelodysplastic syndromes and acute myeloid leukemia. Trisomy 21 and deletion 5q were the commonest cytogenetic abnormalities found. We also assessed complex karyotype in benign diseases and detected one patient of aplastic anemia with complex karyotype. This is the first study highlighting the presence of complex karyotypes in hematological disorders in our region.
大多数血液系统疾病在形态学、免疫表型和基因重排方面具有异质性。通过传统细胞遗传学分析已鉴定出多种复发性染色体畸变，目前这已被广泛认为是这些患者最重要的诊断和预后决定因素之一。尽管较为罕见，但复杂核型与最差的预后相关。
共采集了1185份患有不同血液系统疾病的骨髓或外周血细胞遗传学样本。这些样本包括良性和恶性疾病实体。对每个样本的细胞进行培养，并进行传统细胞遗传学分析。
在1185名受试者中，41名（3.4%）患者存在复杂的细胞遗传学异常。在这41名患者中，33名（80%）为男性。平均年龄为37岁（中位年龄39岁）。骨髓增生异常综合征的复杂核型数量最多（8%），其次是急性髓系白血病（7%）和急性淋巴细胞白血病（4%）。我们还发现少数急性早幼粒细胞白血病、再生障碍性贫血、慢性髓系白血病和弥漫性大B细胞淋巴瘤患者具有复杂核型。针对疾病以及独立地评估了不同细胞遗传学异常的频率。21三体是在28%的患者中发现的最常见染色体异常。
复杂核型最常与骨髓增生异常综合征和急性髓系白血病相关。21三体和5q缺失是发现的最常见细胞遗传学异常。我们还评估了良性疾病中的复杂核型，并检测到一名再生障碍性贫血患者具有复杂核型。这是第一项强调我们地区血液系统疾病中存在复杂核型情况的研究。
