One case of near-tetraploidy acute myeloid leukemia with TP53 gene mutation
10.3760/cma.j.cn114452-20241210-00670
- VernacularTitle:近四倍体TP53突变的急性髓系白血病1例
- Author:
Yu MA
1
;
Guochang ZHANG
;
Yingchun ZHENG
;
Jihong ZHANG
;
Lifen CUI
;
Shuang WANG
;
Jing WANG
Author Information
1. 鞍山市中心医院医院检验科，鞍山114001
- Publication Type:Journal Article
- Keywords:
Leukemia, myeloid, acute;
TP53 gene;
Mutation;
Near-tetraploidy
- From:
Chinese Journal of Laboratory Medicine
2025;48(5):666-669
- CountryChina
- Language:Chinese
-
Abstract:
A 62-year-old male, was admitted to the hospital, with a chief complaint of fever lasting over 10 days and leukopenia and thrombocytopenia for 2 days. Ten days prior to admission, the patient experienced intermittent fever without obvious incentive factors. The breath sounds in both lungs were coarse, without accompanying dry or moist rales. Color Doppler Ultrasound indicated mild splenomegaly and multiple lymphadenectasis in the bilateral cervical, axillary, and inguinal regions. Morphological examination of bone marrow cells demonstrated abnormally large blasts, with some of the nuclei being rather irregular and cytoplasmic vacuoles. Immunophenotyping results identified this group of blast cells as immature monocytes. Karyotype analysis of chromosomes showed clonal abnormalities, with 19 out of 20 cells exhibiting near-tetraploid karyotypes, including complex karyotypic abnormalities involving chromosome17.Targeted next-generation sequencing (NGS) detected gene mutations associated with hematological malignancies that have definite or potential clinical significance,including TP53, SRSF2, STAG2, and ARID2, with variant allele frequencies (VAF) of 63.10%, 30.30%, 0.80%, and 0.60%, respectively. Integrating laboratory findings, the diagnosis was diagnosed as AML-M5 at high-risk. After receiving chemotherapy with the regimen of azacitidine combined with venetoclax, the patient passed away more than 20 days later.
