Application of Targeted mRNA Sequencing in Fusion Genes Diagnosis of Hematologic Diseases.
10.19746/j.cnki.issn.1009-2137.2025.04.042
- Author:
Man WANG
1
;
Ling ZHANG
1
;
Yan CHEN
1
;
Jun-Dan XIE
1
;
Hong YAO
1
;
Li YAO
1
;
Jian-Nong CEN
1
;
Zi-Xing CHEN
1
;
Su-Ning CHEN
1
;
Hong-Jie SHEN
1
Author Information
1. The First Affiliated Hospital of Soochow University, Diagnostic Laboratory for Hematologic Diseases, Jiangsu Institute of Hematology, National Clinical Research Center for Hematologic Diseases, Suzhou 215006, Jiangsu Province, China.
- Publication Type:Journal Article
- Keywords:
targeted mRNA sequencing;
hematologic disease;
fusion gene;
diagnosis
- MeSH:
Humans;
Hematologic Diseases/diagnosis*;
RNA, Messenger/genetics*;
Oncogene Proteins, Fusion/genetics*;
Sequence Analysis, RNA;
Leukemia, Myeloid, Acute/diagnosis*
- From:
Journal of Experimental Hematology
2025;33(4):1209-1216
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the application of targeted mRNA sequencing in fusion gene diagnosis of hematologic diseases.
METHODS:Bone marrow or peripheral blood samples of 105 patients with abnormally elevated eosinophil proportions and 291 acute leukemia patients from January 2015 to June 2023 in the First Affiliated Hospital of Soochow University were analyzed and gene structural variants were detected by targeted mRNA sequencing.
RESULTS:Among 105 patients with abnormally elevated eosinophil proportions, 6 cases were detected with gene structural variants, among which fusion gene testing results in 5 cases could serve as diagnostic indicators for myeloid neoplasms with eosinophilia. In addition, a IL3∷ETV6 fusion gene was detected in one patient with chronic eosinophilic leukemia, not otherwise specified. Among 119 patients with acute myeloid leukemia (AML), 38 cases were detected structural variants by targeted mRNA sequencing, accounting for 31.9%, which was significantly higher than 20.2% (24/119) detected by multiple quantitative PCR (P < 0.05). We also found one patient with AML had both NUP98∷PRRX2 and KCTD5∷JAK2 fusion genes. A total of 104 patients were detected structural variants by targeted mRNA sequencing in 172 cases with acute B-lymphoblastic leukemia who were tested negative by multiple quantitative PCR, with a detection rate of 60.5% (102/172).
CONCLUSION:Targeted mRNA sequencing can effectively detect fusion gene and has potential clinical application value in diagnosis and classificatation in hematologic diseases.
