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急性髓系白血病中的基因变异

and Gene Mutations in Acute Myeloid Leukemia.

作者信息

Naseem Shano, Binota Jogeshwar, Varma Neelam, Virk Harpreet, Varma Subhash, Malhotra Pankaj

机构信息

Department of Hematology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

Department of Pathology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

出版信息

Int J Hematol Oncol Stem Cell Res. 2021 Jan 1;15(1):15-26. doi: 10.18502/ijhoscr.v15i1.5246.

Abstract

A number of mutations have been reported to occur in patients with acute myeloid leukemia (AML), of which and genes mutations are the commonest and have important diagnostic and therapeutic implications. Molecular testing for and genes was performed in 92 de-novo AML patients. The frequency and characteristics of and mutations were analyzed. and mutations were seen in 22.8% and 16.3% of patients, respectively. Amongst mutations, -ITD mutation was seen in 8.7% cases, -TKD in 5.4%, and -ITD+TKD in 2.2% cases. Certain associations between the gene mutations and clinical characteristics were found, including in mutated group- female preponderance, higher incidence in M4/M5 categories and decreased expression of CD34 and HLA-DR; and in -ITD mutated group- higher age of presentation, higher total leucocyte count and blast percentage. - AML patients with and mutations have differences in clinical and hematological features, which might represent their different molecular mechanism in leukemogenesis. The frequency of and mutations in this study was comparable to reports from Asian countries but lower than that reported from western countries. However, as the number of patients in the study was less, a larger number of patients need to be studied to corroborate these findings.

摘要

据报道,急性髓系白血病(AML)患者会发生多种突变,其中 和 基因突变最为常见,且具有重要的诊断和治疗意义。对92例初发AML患者进行了 和 基因的分子检测。分析了 和 基因突变的频率及特征。 和 基因突变分别见于22.8%和16.3%的患者。在 基因突变中,-ITD突变见于8.7%的病例,-TKD见于5.4%,-ITD+TKD见于2.2%的病例。发现基因突变与临床特征之间存在某些关联,包括在 基因突变组中——女性居多、M4/M5亚型发病率较高以及CD34和HLA-DR表达降低;在-ITD基因突变组中——发病年龄较大、白细胞总数和原始细胞百分比更高。- 具有 和 基因突变的AML患者在临床和血液学特征方面存在差异,这可能代表了它们在白血病发生中的不同分子机制。本研究中 和 基因突变的频率与亚洲国家的报道相当,但低于西方国家的报道。然而,由于本研究中的患者数量较少,需要对更多患者进行研究以证实这些发现。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e43d/7885130/379c51c6dcac/IJHOSCR-15-15-g001.jpg

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