Cytogenetic profile of adult acute myeloid leukemia in Egypt: a single-center experience.

IF 1.3 4区生物学 Q4 GENETICS & HEREDITY

Molecular Cytogenetics Pub Date : 2022-10-05 DOI:10.1186/s13039-022-00621-1

Mohamed G Elnaggar, Eman Mosad, Ahmed Makboul, Engy Adel Shafik

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引用次数: 4

Abstract

Background: Acute myeloid leukemia (AML) is a diverse disease characterized by the expansion of blasts of myeloid lineage. Cytogenetic testing is the cornerstone for risk stratification of AML patients. Geographical and environmental factors may play a very important role in the development of leukemia and several differences in genetic profile may be seen among different ethnicities. In our study, we evaluated cytogenetic findings of adult AML patients in South Egypt.

Methods: Cytogenetic testing (karyotyping and M-FISH) was performed for 120 adult patients with AML. Twenty metaphases were analyzed for each patient.

Results: In our study, the median age of AML patients was 36.5 years, with an age range between 18 and 86 years. 56.7% of patients had normal karyotypes and 43.3% of patients had clonal cytogenetic abnormalities. t (15;17) was the most detected structural abnormality, and + 8 was the most detected numerical abnormality. Regarding cytogenetic risk stratification, 65% of patients were in the intermediate-risk category.

Conclusion: The cytogenetic profile of AML patients in our locality showed some differences and some similarities with cytogenetic profiles in different Arab, Asian and Western countries. Further studies are needed using advanced techniques such as next-generation sequencing and optical genome mapping to elucidate more ethnic and geographic genetic heterogeneity among different countries.

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埃及成人急性髓性白血病的细胞遗传学概况:单中心经验。

背景:急性髓系白血病(AML)是一种以髓系细胞扩增为特征的多种疾病。细胞遗传学检测是AML患者风险分层的基础。地理和环境因素可能在白血病的发展中起着非常重要的作用，在不同的种族中可以看到一些遗传谱的差异。在我们的研究中，我们评估了南埃及成年AML患者的细胞遗传学结果。方法:对120例成年AML患者进行细胞遗传学检测(核型和M-FISH)。对每例患者进行20个中期分析。结果:在我们的研究中，AML患者的中位年龄为36.5岁，年龄范围在18 - 86岁之间。56.7%的患者核型正常，43.3%的患者存在克隆性细胞遗传学异常。T(15;17)为检测到最多的结构异常，+ 8为检测到最多的数值异常。关于细胞遗传学风险分层，65%的患者处于中危类别。结论:本地区AML患者的细胞遗传学特征与阿拉伯、亚洲和西方不同国家的细胞遗传学特征既有差异，也有相似之处。需要使用下一代测序和光学基因组图谱等先进技术进行进一步的研究，以阐明不同国家之间更多的种族和地理遗传异质性。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Molecular Cytogenetics GENETICS & HEREDITY-

CiteScore

2.60

自引率

7.70%

发文量

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.