Chen Zhe, Mu Qi-Tian, Wu An, Ouyang Gui-Fang
Ningbo University Medical School, Ningbo 315000, Zhejiang Province, China.
Ningbo First Hospital, Ningbo 315010, Zhejiang Province, China.
Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2022 Feb;30(1):18-21. doi: 10.19746/j.cnki.issn.1009-2137.2022.01.004.
To investigate the genetic and prognostic characteristics of acute myeloid leukemia with myelodysplasia-related changes (AML-MRC) patients.
There were 230 non-M3 AML patients treated in Ningbo First Hospital enrolled, among which 58 patients were newly diagnosed AML-MRC, the patients were followed up and SPSS 25.0 was used to statistically analyze.
There were 49 patients performed genetic testing, 29 patients (59.2%) showed chromosomal abnormalities, including 7q- 8 cases (16.3%), 5q- 6 cases (12.2%), 5 cases (10.2%) of 17p abnormalities, 13 cases (26.5%) of highly abnormal complex karyotypes (CK) (≥5 unrelated chromosomal abnormalities), CK contained chromosomal abnormalities such as +8, 5q-, and 12 cases (24.5%) of monosomal karyotypes (MK). Genetic testing was performed in 37 patients, and 24 (64.9%) patients showed genetic mutations, among which ASXL1 mutation was the most common (8 cases, 21.6%), followed by TET2 mutation in 6 cases (16.2%). Kaplan-Meier analysis showed that AML-MRC patients with high CK (P=0.012), 5q- abnormalities (P=0.038), and TP53 mutations (P=0.008) had poor overall survival.
AML-MRC has unique genetic characteristics, and high CK, 5q- and TP53 mutations are poor prognostic factors.
探讨伴有骨髓增生异常相关改变的急性髓系白血病（AML-MRC）患者的遗传学及预后特征。
纳入宁波市第一医院收治的230例非M3型AML患者，其中新诊断AML-MRC患者58例，对患者进行随访，并采用SPSS 25.0进行统计学分析。
49例患者进行了基因检测，29例（59.2%）显示染色体异常，包括7号染色体长臂缺失8例（16.3%）、5号染色体长臂缺失6例（12.2%）、17号染色体短臂异常5例（10.2%）、高度异常复杂核型（CK）（≥5条不相关染色体异常）13例（26.5%），CK包含如+8、5q-等染色体异常，单倍体核型（MK）12例（24.5%）。37例患者进行了基因检测，24例（64.9%）患者显示基因突变，其中ASXL1突变最常见（8例，21.6%），其次是TET2突变6例（16.2%）。Kaplan-Meier分析显示，CK高（P=0.012）、5q-异常（P=0.038）和TP53突变（P=0.008）的AML-MRC患者总生存期较差。
AML-MRC具有独特的遗传学特征，高CK、5q-及TP53突变是不良预后因素。
