Cytogenetic profile of 1791 adult acute myeloid leukemia in India.

IF 1.3 4区 生物学 Q4 GENETICS & HEREDITY Molecular Cytogenetics Pub Date : 2023-09-16 DOI:10.1186/s13039-023-00653-1
Vivi M Srivastava, Sukesh Chandran Nair, Marimuthu Sappani, Marie-Therese Manipadam, Uday P Kulkarni, Anup J Devasia, N A Fouzia, Anu Korula, Kavitha M Lakshmi, Aby Abraham, Alok Srivastava
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Abstract

Background: Cytogenetic analysis continues to have an important role in the management of acute myeloid leukemia (AML) because it is essential for prognostication. It is also necessary to diagnose specific categories of AML and to determine the most effective form of treatment. Reports from South Asia are few because the availability of cytogenetic services is relatively limited.

Methods: We performed a retrospective analysis of the cytogenetic findings in adults with AML seen consecutively in a single centre in India. The results were categorised according to the 2022 World Health Organisation (WHO), International Consensus Classification (ICC) and European LeukemiaNet (ELN) classifications.

Results: There were 1791 patients aged 18-85 years (median age 42, 1086 males). Normal karyotypes were seen in 646 (36%) patients. The 1145 (64%) abnormal karyotypes comprised 585 (32.7%) with recurrent genetic abnormalities (RGA), 403 (22.5%) with myelodysplasia-related cytogenetic abnormalities (MRC), and 157 (8.8%) with other abnormalities. There were 567 (31.7%) patients with solitary abnormalities and 299 (16.7%) with two abnormalities. Among the 279 (15.6%) patients with ≥ 3 abnormalities, 200 (11.2%) had complex karyotypes (CK) as per the WHO/ICC and 184 (10.3%), as per the ELN definition. There were 158 (8.8%) monosomal karyotypes (MK). Patients with normal karyotypes had a higher median age (45 years) than those with abnormal karyotypes (40 years, p < 0.001), and those with ≥ 3 abnormalities (43 years), than those with fewer abnormalities (39 years, p = 0.005). Patients with CK (WHO/ICC) and monosomal karyotypes had a median age of 48 years. Those with RGA had a lower median age (35 years, p < 0.001) than MRC (46 years) or other abnormalities (44 years). The t(15;17) was the most common abnormality (16.7%),followed by trisomy 8 (11.6%), monosomy 7/del 7q (9.3%), t(8;21) (7.2%), monosomy 5/del 5q (6.7%) and monosomy 17/del 17p (5.2%).

Conclusion: Our findings confirm the lower age profile of AML in India and show similarities and differences with respect to the frequencies of individual abnormalities compared to the literature. The frequencies of the t(15;17), trisomy 8 and the high-risk abnormalities monosomy 7 and monosomy 5/del 5q were higher, and that of the inv(16), lower than in most reports.

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印度1791例成人急性髓性白血病的细胞遗传学分析。
背景:细胞遗传学分析在急性髓性白血病(AML)的治疗中继续发挥着重要作用,因为它对预后至关重要。诊断AML的特定类别并确定最有效的治疗形式也是必要的。来自南亚的报告很少,因为细胞遗传学服务的可用性相对有限。方法:我们对印度单一中心连续观察到的AML成人细胞遗传学结果进行了回顾性分析。研究结果根据2022年世界卫生组织(WHO)、国际共识分类(ICC)和欧洲白血病网(ELN)分类进行分类。结果:1791例患者,年龄18 ~ 85岁,中位年龄42岁,男性1086例。646例(36%)患者核型正常。1145例(64%)异常核型中,585例(32.7%)为复发性遗传异常(RGA), 403例(22.5%)为骨髓增生异常相关的细胞遗传异常(MRC), 157例(8.8%)为其他异常。单发异常567例(31.7%),双发异常299例(16.7%)。在279例(15.6%)≥3种异常的患者中,根据WHO/ICC, 200例(11.2%)患者具有复杂核型(CK),根据ELN定义,184例(10.3%)患者具有复杂核型(CK)。有158个(8.8%)单染色体核型(MK)。正常核型患者的中位年龄(45岁)高于异常核型患者的中位年龄(40岁)。结论:我们的研究结果证实了印度AML患者的年龄分布较低,并且与文献相比,在个体异常频率方面显示出相似性和差异性。t(15;17)、8三体及高危异常7、5/del 5q的频率较高,而inv(16)的频率低于多数报道。
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来源期刊
Molecular Cytogenetics
Molecular Cytogenetics GENETICS & HEREDITY-
CiteScore
2.60
自引率
7.70%
发文量
49
审稿时长
>12 weeks
期刊介绍: Molecular Cytogenetics encompasses all aspects of chromosome biology and the application of molecular cytogenetic techniques in all areas of biology and medicine, including structural and functional organization of the chromosome and nucleus, genome variation, expression and evolution, chromosome abnormalities and genomic variations in medical genetics and tumor genetics. Molecular Cytogenetics primarily defines a large set of the techniques that operate either with the entire genome or with specific targeted DNA sequences. Topical areas include, but are not limited to: -Structural and functional organization of chromosome and nucleus- Genome variation, expression and evolution- Animal and plant molecular cytogenetics and genomics- Chromosome abnormalities and genomic variations in clinical genetics- Applications in preimplantation, pre- and post-natal diagnosis- Applications in the central nervous system, cancer and haematology research- Previously unreported applications of molecular cytogenetic techniques- Development of new techniques or significant enhancements to established techniques. This journal is a source for numerous scientists all over the world, who wish to improve or introduce molecular cytogenetic techniques into their practice.
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