Objective To analyze the clinical and molecular biological characteristics of patients with acute myeloid leukemia (AML) complicated with TP53 mutations.

Methods We retrospectively analyzed the clinical data of 256 patients who were initially diagnosed with AML using polymerase chain reaction (PCR) combined with gene sequencing technology at Huai'an Hospital Affiliated to Xuzhou Medical University from July 2017 to May 2023. The mutation detection rate of the TP53 gene was determined, and clinical, laboratory, molecular, karyotype, and overall survival of patients with TP53 gene mutations were analyzed.

Results The TP53 gene mutation detection rate was 7.8%. The TP53 gene mutation and non-mutation groups differed significantly in age, WHO type, white blood cell (WBC) count, and origin of bone marrow cells (P<0.05). However, the two groups did not significantly differ in the incidence rates of BCR-ABL, NPM1 mutation, CEBPA mutation, RUNX1-RUNX1T1, MLL-related fusion gene, FLT3-ITD mutation, and CBFβ-MYH11 mutation (P>0.05). The detection rates of the monomer karyotype, complex karyotype, and abnormal karyotypes -17/17p-, -7/7q-, and -3/3q- in the TP53 gene mutation group significantly differed from those in the TP53 gene non-mutation group (P<0.05). The TP53 gene non-mutation group had a significantly better total survival time than the TP53 gene mutation group (Log-rank χ²=3.867, P<0.05). The univariate and multivariate Cox regression analyses identified the WBC count and TP53 gene mutations as independent influencing factors for patients with AML (both P<0.05).

Conclusions Patients with AML carrying TP53 gene mutations exhibit specific clinical and molecular biological characteristics and have a poor prognosis.