Acute leukemia with NUP98-DDX10 fusion gene-positive: report of 2 cases and review of literature
10.3760/cma.j.cn115356-20210822-00187
- VernacularTitle:NUP98-DDX10融合基因阳性急性白血病2例并文献复习
- Author:
Zhe WANG
1
;
Shuning WEI
;
Qishan HAO
;
Chengwen LI
;
Zheng TIAN
;
Yingchang MI
Author Information
1. 中国医学科学院血液病医院（中国医学科学院血液学研究所） 实验血液学国家重点实验室 国家血液系统疾病临床医学研究中心 细胞生态海河实验室，天津 300020
- Keywords:
Leukemia, acute;
Transcriptome sequencing;
NUP9L8-DDX10 fusion gene
- From:
Journal of Leukemia & Lymphoma
2022;31(7):412-418
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the clinical characteristics, diagnosis, treatment and prognosis of acute leukemia (AL) with NUP98-DDX10 fusion gene-positive.Methods:The clinical data of 2 AL patients with NUP98-DDX10 fusion gene-positive who admitted to Blood Diseases Hospital, Chinese Academy of Medical Sciences in April 2020 and February 2021, respectively were retrospectively analyzed. Transcriptome gene sequencing was used to detect fusion gene, and the fusion gene fragment was amplified by using reverse transcription polymerase chain reaction (RT-PCR), and Sanger sequencing was used to clarify sequences. The clinical and experimental indicators characteristics were analyzed and the relevant literatures were reviewed.Results:According to the clinical diagnosis, 1 patient was diagnosed as acute myeloid leukemia M 5 (AML-M 5) and 1 patient was diagnosed as acute leukemia of ambiguous lineage, not otherwise specified (ALAL-NOS). The AML-M 5 patient presented with severe coagulation abnormalities, and fulfilled the diagnostic criteria for diffuse intravascular coagulation (DIC) at the initial visit. Transcriptome sequencing of 2 patients showed NUP98-DDX10 fusion gene- positive. RT-PCR confirmed that sequencing results identified 2 different splice fusion modes: one was NUP98 exon 14 fused with DDX10 exon 7(usually called "type Ⅱ"), the other was NUP98 exon 14 fused with DDX10 exon 13, which was never reported and named as "type Ⅳ". From 1997 to 2018, a total of 16 cases with NUP98-DDX10 related hematologic neoplasms were reported in the literature. A summary analysis of 16 cases added with 2 patients in our center included 13 males and 5 females with median age 31.5 years (0.08-61 years). The median overall survival was 12 months (1-46 months). Conclusions:A novel fusion gene NUP98-DDX10 transcriptome is identified in ALAL-NOS patient. Hematological malignancies with NUP98-DDX10 are very rare. They respond poorly to conventional treatment and require allogeneic hematopoietic stem cell transplantation (allo-HSCT) to improve the prognosis.
