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携带 突变的骨髓肉瘤在临床上和遗传学上可能与携带 突变的 AML 不同:来自骨髓病理学组的一项研究。

Myeloid sarcoma with mutation may be clinically and genetically distinct from AML with mutation: a study from the Bone Marrow Pathology Group.

机构信息

Harvard Medical School, Boston, MA, USA.

Beth Israel Deaconess Medical Center, Boston, MA, USA.

出版信息

Leuk Lymphoma. 2023 May;64(5):972-980. doi: 10.1080/10428194.2023.2185091. Epub 2023 Mar 24.

DOI:10.1080/10428194.2023.2185091
PMID:36960680
Abstract

Myeloid sarcoma (MS) is currently considered equivalent to de novo acute myeloid leukemia (AML); however, the relationship between these entities is poorly understood. This retrospective multi-institutional cohort study compared 43 MS with mutation to 106 AML with mutation. Compared to AML, MS had more frequent cytogenetic abnormalities including complex karyotype ( = .009 and  = .007, respectively) and was enriched in mutations of genes involved in histone modification, including ( = .007 and  = .008, respectively). AML harbored a higher average number of gene mutations ( = .002) including more frequent mutations ( < .001) and mutations of DNA-methylating genes including and (both  < .001). MS had significantly shorter overall survival (OS) than AML (median OS: 44.9 vs. 93.2 months, respectively,  = .037). MS with mutation has a unique genetic landscape, and poorer OS, compared to AML with mutation.

摘要

骨髓肉瘤 (MS) 目前被认为等同于初发急性髓细胞性白血病 (AML);然而,这两种实体之间的关系尚不清楚。本回顾性多机构队列研究比较了 43 例 突变的 MS 和 106 例 突变的 AML。与 AML 相比,MS 更常出现细胞遗传学异常,包括复杂核型(分别为 =.009 和 =.007),并且富含组蛋白修饰相关基因突变,包括 (分别为 =.007 和 =.008)。AML 平均携带更多基因突变( =.002),包括更常见的 突变( <.001)和 DNA 甲基化基因的突变,包括 和 (均为 <.001)。MS 的总生存期 (OS) 明显短于 AML(中位 OS:44.9 与 93.2 个月,分别为 =.037)。与 AML 相比,MS 具有独特的遗传特征,并且 OS 更差。

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