分子谱分析有助于鉴别 MDS 和伴有 MDS 相关改变的 AML。

Interrogation of molecular profiles can help in differentiating between MDS and AML with MDS-related changes.

机构信息

Division of Hematology and Oncology, Medical College of Wisconsin and Froedtert Hospital, Milwaukee, WI, USA.

Department of Malignant Hematology, Moffitt Cancer Center, Tampa, FL, USA.

出版信息

Leuk Lymphoma. 2020 Jun;61(6):1418-1427. doi: 10.1080/10428194.2020.1719089. Epub 2020 Feb 4.

DOI:10.1080/10428194.2020.1719089

PMID:32013644

Abstract

A subset of AML with myelodysplastic syndrome (MDS)-related changes (MRCs) occurs without a documented MDS phase. We studied genomic profile of 646 patients: 310 with MDS, 167 with AML without (w/o) MRC, 99 with primary (p) AML-MRC, and 70 with secondary (s) AML-MRC and sought to find differences in mutational patterns. Among the 32-myeloid associated genes studied, ( ≤ .001) was significantly mutated in higher proportion of patients with MDS, compared to other categories. ( < .001), ( = .08), and ( = .02) mutations showed trend toward significance for AML w/o MRC, compared to other categories. In pAML-MRC, ( < .001) was significantly mutated in higher proportion of patients. Similarly, ( = .001), ( = .004), and ( = .04) mutations were more commonly seen in sAML-MRC. While these signatures may not be diagnostically discriminatory, they may help in disease categorization when other data are absent or in challenging cases.

摘要

一组伴有 MDS 相关改变（MRC）的 AML 子集，不伴有 MDS 病史。我们研究了 646 名患者的基因组图谱：310 名 MDS 患者，167 名无 MDS 相关改变的 AML 患者（w/o MRC），99 名原发性 AML-MRC 患者，70 名继发性 AML-MRC 患者，旨在寻找突变模式的差异。在研究的 32 个与髓系相关的基因中，与其他类别相比，（ ≤ .001）在 MDS 患者中发生突变的比例更高。与其他类别相比，（ < .001）、（ = .08）和（ = .02）突变在 w/o MRC 的 AML 患者中呈显著趋势。在 pAML-MRC 中，（ < .001）在更高比例的患者中发生突变。同样，（ = .001）、（ = .004）和（ = .04）突变在 sAML-MRC 中更为常见。虽然这些特征可能不具有诊断性的鉴别力，但在其他数据缺失或在具有挑战性的病例中，它们可能有助于疾病分类。