SF3B1/DNMT3A 基因突变与单独 DNMT3A 或 SF3B1 基因突变在骨髓增生异常综合征和意义未明的克隆性血细胞减少症中的比较。

Comparison of SF3B1/DNMT3A Comutations With DNMT3A or SF3B1 Mutation Alone in Myelodysplastic Syndrome and Clonal Cytopenia of Undetermined Significance.

机构信息

Department of Hematopathology and Lab Medicine, H. Lee Moffitt Cancer Center and Research Institute, Tampa, FL.

出版信息

Am J Clin Pathol. 2020 Jun 8;154(1):48-56. doi: 10.1093/ajcp/aqaa016.

DOI:10.1093/ajcp/aqaa016

PMID:32112088

Abstract

OBJECTIVES

To compare the clinical significance of SF3B1/DNMT3A Comutations with SF3B1 or DNMT3A mutation alone in myelodysplastic syndrome (MDS) and clonal cytopenia of undetermined significance (CCUS).

METHODS

We identified and compared 31 patients with only DNMT3A mutation, 48 patients with only SF3B1 mutation, and 16 patients with only SF3B1/DNMT3A comutations.

RESULTS

SF3B1/DNMT3A comutations were found to be more common in MDS, whereas DNMT3A mutation alone was more common in CCUS. The patients with SF3B1/DNMT3A comutations were less likely to have poor cytogenetics than patients with DNMT3A mutation alone. Patients with SF3B1/DNMT3A comutations showed significantly longer median survival time and better overall survival than patients with DNMT3A mutation alone.

CONCLUSIONS

Patients with SF3B1/DNMT3A comutations appear to have better clinical outcomes than patients with isolated DNMT3A mutation. These findings suggest that the favorable prognosis of SF3B1 mutation in is not abrogated by the concurrent presence of a DNMT3A mutation.

摘要

目的

比较骨髓增生异常综合征（MDS）和意义未明的克隆性血细胞减少症（CCUS）中 SF3B1/DNMT3A 共突变与 SF3B1 或 DNMT3A 单一突变的临床意义。

方法

我们鉴定并比较了仅存在 DNMT3A 突变的 31 例患者、仅存在 SF3B1 突变的 48 例患者和仅存在 SF3B1/DNMT3A 共突变的 16 例患者。

结果

SF3B1/DNMT3A 共突变在 MDS 中更为常见，而 DNMT3A 突变单独存在时在 CCUS 中更为常见。与仅存在 DNMT3A 突变的患者相比，SF3B1/DNMT3A 共突变的患者不良细胞遗传学特征的发生率更低。SF3B1/DNMT3A 共突变的患者中位生存时间明显长于仅存在 DNMT3A 突变的患者，总生存情况也更好。