Molecular genetic and clinical characteristics of MEF2D-BCL9 fusion gene-positive acute B-cell lymphoblastic leukemia
10.3760/cma.j.cn115356-20211122-00269
- VernacularTitle:MEF2D-BCL9融合基因阳性急性B淋巴细胞白血病分子遗传学特征及临床特征分析
- Author:
Zhixiu LIU
1
;
Xue CHEN
;
Fang WANG
;
Xian ZHANG
;
Tong WANG
;
Ping WU
;
Xiaoli MA
;
Mingyue LIU
;
Yang ZHANG
;
Yijun LIU
;
Panxiang CAO
;
Jiancheng FANG
;
Lili YUAN
;
Hongxing LIU
Author Information
1. 河北燕达陆道培医院检验科，廊坊 065201
- Keywords:
Precursor cell lymphoblastic leukemia-lymphoma;
Gene fusion;
Sequence analysis, RNA;
MEF2D-BCL9
- From:
Journal of Leukemia & Lymphoma
2022;31(8):480-483
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the molecular genetic and clinical characteristics of MEF2D-BCL9 fusion gene-positive acute B-cell lymphoblastic leukemia (B-ALL), and to provide the reference for the diagnosis and treatment of the disease.Methods:The medical record and experimental examination data of a 18-year-old female MEF2D-BCL9 fusion gene-positive B-ALL patient were retrospectively analyzed. The clinical manifestations and biological characteristics of MEF2D-BCL9 fusion gene-positive B-ALL were summarized.Results:This 18-year-old female patient was treated in a local hospital in December 2018 and was diagnosed as B-ALL. She achieved complete remission after chemotherapy and recurred at 6 months after the initial onset, and then she was admitted to Hebei Yanda Ludaopei Hospital in the 9 months after the initial onset.MEF2D-BCL9 fusion gene was detected through RNA-sequencing (RNA-seq) and verified by using polymerase chain reaction and Sanger sequencing. Bone marrow cell morphology was similar to mature B cells with vacuoles but without characteristic chromosome karyotype abnormalities. The patient achieved remission after VLD regimen chemotherapy, chimeric antigen receptor T-cell (CAR-T) therapy and bridged to allogeneic hematopoietic stem cell transplantation (allo-HSCT). She has maintained complete remission for 2 years at the last follow-up in February 2022.Conclusions:MEF2D-BCL9 fusion gene-positive B-ALL is characterized with high risk, early relapse and poor prognosis. These patients may benefit from CAR-T and allo-HSCT. It further emphasizes the importance of taking MEF2D-BCL9 fusion gene into the detection or identification by using RNA-seq, particularly for those newly diagnosed B-ALL patients in children and adolescents with specific bone marrow morphology.
