Transcriptome sequencing identifies novel EVX fusions involved in transcriptional activation of HOX family genes in pediatric immature T-cell acute lymphoblastic leukemia: two cases reports and a literature review.
HOX family genes
Novel EVX fusions
Pediatric immature T-ALL
Transcriptome sequencing
Journal
International journal of hematology
ISSN: 1865-3774
Titre abrégé: Int J Hematol
Pays: Japan
ID NLM: 9111627
Informations de publication
Date de publication:
Oct 2023
Oct 2023
Historique:
received:
17
01
2023
accepted:
15
05
2023
revised:
09
05
2023
medline:
23
10
2023
pubmed:
27
5
2023
entrez:
27
5
2023
Statut:
ppublish
Résumé
Driver genomic alterations in pediatric immature T-cell acute lymphoblastic leukemia are not fully known. We report two cases of novel EVX fusions involved in the transcriptional activation of HOX family genes, ETV6::EVX2 and MSI2::EVX1/HOXA13, which activate HOXD and HOXA cluster genes transcription through enhancer hijacking. HOXA and HOXD were the only key transcription factors activated in these cases, which indicates their important roles in leukemogenesis. Our findings elucidate potential drivers for development of T-cell lymphoblastic leukemia, and are valuable for diagnosis and risk stratification of pediatric T-ALL in the era of precision medicine.
Identifiants
pubmed: 37243888
doi: 10.1007/s12185-023-03619-6
pii: 10.1007/s12185-023-03619-6
doi:
Substances chimiques
MSI2 protein, human
0
RNA-Binding Proteins
0
Types de publication
Review
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
508-513Subventions
Organisme : National Natural Science Foundation of China
ID : 81970163
Organisme : National Natural Science Foundation of China
ID : 82170218
Organisme : Jiangsu Project
ID : BE2021654
Organisme : Suzhou Project
ID : GSWS2020039
Organisme : the National Clinical Research Center for Hematological Disorders
ID : 2020ZKPB02
Organisme : Shanghai Key Laboratory of Clinical Molecular Diagnostics for Pediatrics
ID : 20dz2260900
Informations de copyright
© 2023. Japanese Society of Hematology.
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