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慢性淋巴细胞白血病的全外显子组和全基因组测序:新的靶向生物标志物。

Whole-exome and whole-genome sequencing in chronic lymphocytic leukemia: new biomarkers to target.

机构信息

Laboratory of Medical Genetics, Faculty of Medicine, Saint Joseph University of Beirut, BP-17 5208, Lebanon.

Department of Hematology-Oncology, Hotel Dieu de France University Hospital, Faculty of Medicine, Saint Joseph University, Beirut, BP-17 5208, Lebanon.

出版信息

Pharmacogenomics. 2020 Aug;21(13):957-962. doi: 10.2217/pgs-2020-0022. Epub 2020 Aug 17.

Abstract

Many biomarkers indicate prognosis in chronic lymphocytic leukemia; such as fluorescence hybridization testing: 17p or 11q deletions have a worse prognosis than trisomy 12, 13q deletion or normal result, or the mutational status of the immunoglobulin heavy chain (IGHV): unmutated IGHV have a worse prognosis than mutated IGHV. Recently, many gene mutations (,  etc.,) have been linked to a worse prognosis. With the new era of high-throughput sequencing, it has become easier to study gene mutations and their implication in predicting prognosis. In this review, we aim to review all the studies that performed whole-exome sequencing or whole-genome sequencing on chronic lymphocytic leukemia cells and explore the implication of various genes in disease prognosis.

摘要

许多生物标志物可用于指示慢性淋巴细胞白血病的预后;例如荧光原位杂交检测:17p 或 11q 缺失的预后比 12 三体、13q 缺失或正常结果差,或免疫球蛋白重链(IGHV)的突变状态:未突变的 IGHV 比突变的 IGHV 预后差。最近,许多基因突变(等)与预后不良有关。随着高通量测序的新时代的到来,研究基因突变及其对预测预后的意义变得更加容易。在这篇综述中,我们旨在回顾所有对慢性淋巴细胞白血病细胞进行全外显子组测序或全基因组测序的研究,并探讨各种基因在疾病预后中的意义。

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