文章：

伴有双突变CEBPA的AML伴基因突变及其临床意义

Companion gene mutations and their clinical significance in AML with double mutant CEBPA 

原文发布日期：2019-09-03 

英文摘要：

Acute myeloid leukemia (AML) with double mutant CEBPA (CEBPAdm) is generally associated with favorable prognosis, but the heterogeneity still blatant and needs further exploration. We aimed to comprehensively analyze the companion genetic abnormalities and their clinical significance in AML patients with CEBPAdm. By performed targeted amplicon sequencing of 58 genes in specimens at the time of initial diagnosis of 609 AML patients, we identified 76 cases (12.5%) were CEBPAdm, and 88.2% of them also carry other gene mutations. There were more additional gene mutations, especially more epigenetic modifiers gene mutations in CEBPAsm than CEBPAdm cases, while GATA2, CSF3R, JAK3, and KIT mutations were exclusively betide in CEBPAdm but not CEBPAsm. Mutations of tyrosine kinase genes confer to adverse prognostic in karyotype normal CEBPAdm AML and provide potential therapeutic targets. The incidence of germline CEBPA mutation in CEBPAdm cases was 5.3% (4/76), including one C-terminal mutation. Deciphering the mutation spectrum of CEBPAdm AML could facilitate an in-depth understanding of the pathogenesis and refine the prognostic classification of this disease entity. 

摘要翻译： 

伴双突变CEBPA（CEBPAdm）的急性髓系白血病（AML）通常预后良好，但其异质性依然显著，需进一步探索。本研究旨在全面分析CEBPAdm AML患者的伴随遗传学异常及其临床意义。通过对609例初诊AML患者标本进行58个基因的靶向扩增子测序，我们鉴定出76例（12.5%）为CEBPAdm患者，其中88.2%携带其他基因突变。与CEBPAdm病例相比，CEBPAsm病例存在更多附加基因突变（尤其是表观遗传修饰基因突变），而GATA2、CSF3R、JAK3和KIT突变仅见于CEBPAdm组。酪氨酸激酶基因突变对核型正常的CEBPAdm AML患者预后不良，同时为治疗提供了潜在靶点。CEBPAdm病例中胚系CEBPA突变发生率为5.3%（4/76），其中包括1例C末端突变。解析CEBPAdm AML的突变谱有助于深入理解该疾病发病机制并完善其预后分层体系。

原文链接：

Companion gene mutations and their clinical significance in AML with double mutant CEBPA