细胞遗传学分析在急性髓系白血病（AML）的管理中仍然起着重要的作用，因为它对预后的判断至关重要。这也是为了诊断特定类型的AML和确定最有效的治疗形式所必需的。由于细胞遗传学服务的可用性相对有限，来自南亚的报告很少。我们对在印度的一家单独中心连续就诊的成年AML患者的细胞遗传学结果进行了回顾性分析。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）分类进行了分类。共有1791名年龄在18至85岁之间的患者（中位年龄42岁，男性1086人）。646名（36%）患者出现正常核型。1145名（64%）患者出现异常核型，其中包括585名（32.7%）具有复发性遗传异常（RGA）的患者，403名（22.5%）具有骨髓增生异常相关的细胞遗传学异常（MRC）的患者，以及157名（8.8%）具有其他异常的患者。共有567名（31.7%）患者存在单一异常，299名（16.7%）患者存在两个异常。在279名（15.6%）患者中，有3个或更多异常的患者中，200名（11.2%）患有符合WHO/ICC定义的复杂核型（CK），而184名（10.3%）患有符合ELN定义的复杂核型。共有158名（8.8%）患有单体核型（MK）。核型正常的患者的中位年龄（45岁）高于核型异常的患者（40岁，p<0.001），以及具有≥3个异常的患者（43岁），高于具有较少异常的患者（39岁，p=0.005）。具有CK（WHO/ICC）和单体核型的患者的中位年龄为48岁。具有RGA的患者的中位年龄（35岁，p<0.001）低于MRC（46岁）或其他异常（44岁）。t（15;17）是最常见的异常（16.7%），其次是三体8（11.6%）、单体7/del 7q（9.3%）、t（8;21）（7.2%）、单体5/del 5q（6.7%）和单体17/del 17p（5.2%）。我们的结果证实了印度AML的低龄特点，并显示出与文献相比个别异常频率的相似性和差异性。t（15;17）、三体8和高风险异常单体7和单体5/del 5q的频率较高，而inv（16）的频率较低。© 2023年，BioMed Central Ltd，Springer Nature的一部分。

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.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.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%).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.© 2023. BioMed Central Ltd., part of Springer Nature.