PML::RARA-negative acute promyelocytic leukemia with STAT3::RARA fusion gene positive: report of 1 case and review of literature
10.3760/cma.j.cn115356-20231012-00053
- VernacularTitle:融合基因STAT3：：RARA阳性PML：：RARA阴性急性早幼粒细胞白血病1例并文献复习
- Author:
Jing NING
1
;
Rui YANG
;
Hainan WANG
;
Lijuan CUI
Author Information
1. 宁夏医科大学总医院血液内科，银川 750004
- Keywords:
Leukemia, promyelocytic, acute;
Oncogene fusion;
STAT3 transcription factor;
Receptors, retinoic acid;
PML protein
- From:
Journal of Leukemia & Lymphoma
2024;33(9):543-547
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To improve understanding of acute promyelocytic leukemia (APL) with STAT3::RARA fusion gene positive.Methods:The clinical data, gene detection, diagnosis and treatment of 1 APL patient with STAT3::RARA fusion gene positive admitted to General Hospital of Ningxia Medical University in July 2020 were retrospectively analyzed, and the related literatures were reviewed.Results:The patient was a 70-year-old elderly male who was admitted to the hospital due to bleeding hemorrhoids accompanied with recurrent oral ulcers for 2 months. Physical examination showed anemic appearance and no obvious positive signs were detected. Admission blood routine examination: white blood cell count was 4.36×10 9/L, neutrophil ratio was 56.5%, lymphocyte ratio was 22.7%, hemoglobin was 67 g/L, and platelet count was 37.0×10 9/L. Bone marrow smear of ilium puncture: myeloproliferative hyperplasia was hyperactive, granular dysplasia was abnormal and pathological promyelocytes could be predominantly seen. The results of real-time quantitative polymerase chain reaction showed that PML::RARA L (bcr1), PML::RARA V (bcr2) and PML::RARA S (bcr3) were not detected. PML::RARA fusion gene probe fluorescence in situ hybridization showed positive for partial deletion of RARA gene locus and negative for fusion of PML::RARA gene locus. Blood tumor panoramic gene variation test showed STAT3::RARA fusion gene was positive, and no gene variation associated with blood tumors was detected. Finally, the patient was diagnosed as atypical APL (STAT::RARA fusion gene positive). The patient did not respond to the combination treatment of all-trans retinoic acid and arsenic trioxide. And then he received symptomatic supportive treatment rather than the combined chemotherapy, and was discharged after remission of fatigue symptoms. Conclusions:STAT::RARA fusion gene positive APL is clinically rare and lacks effective treatment compared with classical APL. Its insensitivity to all-trans retinoic acid and arsenic trioxide may be related to this fusion gene.
