周虹 謝亞萍 高大泉 陳況 譚俊峰 徐穎 施鵬飛

[關鍵詞] 基因突變;急性髓系白血病;臨床預后;染色體核型

[中圖分類號] R733.71? ? ? ? ? [文獻標識碼] A? ? ? ? ? [文章編號] 1673-9701（2021）25-0024-07

Clinical significance of CEBPα，NPM1，ASXL1，CBFβ/MYH11 gene mutations in the patients with acute myeloid leukemia

ZHOU Hong? ?XIE Yaping? ?GAO Daquan? ?CHEN Kuang? ?TAN Junfeng? ?XU Ying? ?SHI Pengfei

Department of Hematology， Hangzhou First People′s Hospital Affiliated to Zhejiang University， School of Medicine， Hangzhou? ?310006， China

[Abstract] Objective To investigate the clinical significance of CEBPα，NPM1，ASXL1 and CBFβ/MYH11 mutations in the patients with primary acute myeloid leukemia （AML）. Methods The clinical data of 101 patients with primary AML admitted to our hospital from January 2015 to May 2020 were analyzed.The mutations of CEBPα，NPM1，ASXL1 and CBFβ/MYH11 were analyzed using chromosome karyotype analysis and polymerase chain reaction.The clinical manifestation，the efficacy of the first induction chemotherapy and prognosis of the patients with mutant genes were compared.Results The incidences of the mutations of CEBPα，NPM1，ASXL1 and CBFβ/MYH11 were 10.9%，6.9%，5.9% and 3.0%，respectively. Compared with the patients without gene mutation，the leukocyte count，the positive rate of CD33 and the expression of HLA-DR were increased in the patients with CEBPα mutation，mostly occurring in normal chromosome karyotype，and the first complete remission （CR1） following induction chemotherapy was significantly increased.The platelet count of the NPM1-mutant patients was higher than that of the non-mutant patients，and most mutations occurred in normal chromosome karyotype.NPM1 mutation was more common in the group with moderate prognosis.ASXL1 mutations were mostly found in the moderate and the poor prognosis groups，but not in the good prognosis group.The onset age of the patients with CBFβ/MYH11 mutation was significantly lower than that of the non-mutant group，the proportions of the good prognosis group and the moderate group were higher，and the CR1 following induction chemotherapy was higher.Among 101 cases of AML，the patients with onset age less than 60 years old and CR1 had longer overall survival （OS） time. Conclusion The mutation rates of CEBPα and NPM1 are relatively high in AML patients，while the mutation rates of ASXL1 and CBFβ/MYH11 are relatively low.The patients with CEBPα mutation have a high incidence of hyperleukocytic acute leukemia and are easier to obtain complete remission.The patients with single NPM1 mutation have moderate prognosis，but the prognosis is poor in the patients with NPM1 mutation combined with CEBPα mutation.ASXL1 mutation may be an indicator of adverse prognosis，but it does not affect the OS time.CBFβ/MYH11 mutation is mostly found in young patients and has a good overall prognosis.It is a good prognostic indicator and can be used alone to evaluate the prognosis of AML patients.