Objective: To investigate the genetic and prognostic characteristics of acute myeloid leukemia with myelodysplasia-related changes (AML-MRC) patients.
Methods: 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.
Results: 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.
Conclusion: AML-MRC has unique genetic characteristics, and high CK, 5q- and TP53 mutations are poor prognostic factors.
题目: AML-MRC患者遗传特征及预后特点分析.
目的: 探讨急性髓系白血病伴骨髓增生异常相关改变（AML-MRC）患者的遗传特征及其预后特点.
方法: 选取近5年到宁波市第一医院就诊的非M3 AML患者230例，其中58例初发AML-MRC患者，对其进行随访并用SPSS 25.0软件进行相关统计分析.
结果: 共有49例患者进行了染色体检测，29例（59.2%）染色体异常，其中7q- 8例（16.3%），5q- 6例（12.2%），17p异常5例（10.2%），高度异常的复杂核型（CK）（≥5个无关染色体异常）13例（26.5%），CK中包含有+8、5q-等染色体异常，单体核型（MK）12例（24.5%）。37例患者进行了基因检测，24例（64.9%）存在基因突变，其中ASXL1突变8例（21.6%），TET2突变6例（16.2%）。Kaplan-Meier分析显示，伴有高度CK（P=0.012）、5q-（P=0.038）以及TP53突变（P=0.008）的AML-MRC患者总体生存率更差.
结论: AML-MRC具有独特遗传学特征，高度CK、5q-及TP53突变是影响患者预后的不良因素.
Keywords: 5q-; TP53; acute myeloid leukemia with myelodysplasia-related changes; complex karyotype; overall survival.