Department of Hemopathology, The Affiliated Huaian No.1 People's Hospital of Nanjing Medical University, Key Laboratory of Nanjing Medical University, Huaian, People's Republic of China.
Hematology. 2023 Dec;28(1):2223866. doi: 10.1080/16078454.2023.2223866.
This study aimed to evaluate the incidence and prognostic significance of common cytogenetic and molecular abnormalities in patients with -mutated and non--mutated acute myeloid leukemia (AML).
We retrospectively analyzed the clinical data of 326 patients with newly diagnosed AML hospitalized in our institution between October 2015 and June 2021. Classification variables were reported as percentages and compared by χ tests. Survival rates were evaluated by the Kaplan-Meier method.
The incidence of mutations in AML patients in this clinic was 9.8%, of whom 87.5% patients were over 50 years old. The common concurrent mutations of were , , and . Patients with a variant allele frequency (VAF) ≤ 40% had better overall survival (OS) than patients with a VAF >40%. Compared with non--mutated patients, significantly more mutated patients were gene-fusion negative, +mar, - 7/del (7q), - 5/del (5q), - 17/17p-, - 12/12p-, incomplete (inc) karyotype, or complex karyotype (CK), and had or mutations, as well as a lower complete remission (CR) rate (31.3%) and higher recurrence rate (80.0%). The 2-year OS rates of mutated and non-mutated patients were 18.8% and 47.3%, respectively (< 0.001). Univariate analysis showed that non-mutated patients with family gene fusion, +mar or - 17/17p - karyotype, and mutations had a poor prognosis, while t(8; 21) karyotype was associated with a better prognosis. mutated patients with - 7/del (7q) or - 5/del (5q) karyotype had a poor prognosis.
The cytogenetic and molecular landscapes differed between mutated and non-mutated patients, and some abnormalities had different values between them.
本研究旨在评估突变和非突变急性髓系白血病（AML）患者中常见细胞遗传学和分子异常的发生率和预后意义。
我们回顾性分析了 2015 年 10 月至 2021 年 6 月期间在我院住院的 326 例新诊断 AML 患者的临床资料。分类变量以百分比表示，并通过 χ 检验进行比较。生存曲线采用 Kaplan-Meier 法评估。
本诊所 AML 患者的发生率为 9.8%，其中 87.5%的患者年龄超过 50 岁。常见的并发突变有 、 、 、 。等位基因变异频率（VAF）≤40%的患者总生存（OS）优于 VAF>40%的患者。与非突变患者相比，突变患者明显较少出现基因融合阴性、+mar、-7/del（7q）、-5/del（5q）、-17/17p-、-12/12p-、不完全（inc）核型或复杂核型（CK），并且具有更高的 或 突变率、更低的完全缓解（CR）率（31.3%）和更高的复发率（80.0%）。突变和非突变患者的 2 年 OS 率分别为 18.8%和 47.3%（<0.001）。单因素分析显示，非突变患者中具有 家族基因融合、+mar 或-17/17p-核型以及 突变者预后不良，而 t（8;21）核型与较好的预后相关。突变患者中具有-7/del（7q）或-5/del（5q）核型者预后不良。
突变和非突变患者的细胞遗传学和分子图谱不同，某些异常在两者之间具有不同的价值。
