Report of IRF2BP1 as a novel partner of RARA in variant acute promyelocytic leukemia

IRF2BP1 breaked in the middle of exon 1 at the c.322 position and fused with RARA intron 2 which is located at 3717 bp upstream of its exon 3. The fusion produced a new intron by forming a paired splicing donor GT at 9 bp downstream of RARA breakpoint and acceptor AG at the 5′ end of RARA exon 3. Th...

Full description

Saved in:
Bibliographic Details
Published in:American journal of hematology 2024-05, Vol.99 (5), p.1005-1007
Main Authors: Jiang, Mei, Wang, Xuemei, Yu, Min, Jiang, Shuling, Hong, Miao, Zhou, Yuru, Li, Fei, Liu, Hongxing, Zhang, Zhanglin
Format: Article
Language:English
Subjects:
Acute promyeloid leukemia
Chromosomes, Human, Pair 17
Exons - genetics
Fusion protein
Gene fusion
Humans
Leukemia, Promyelocytic, Acute - genetics
Oncogene Proteins, Fusion - genetics
Promyeloid leukemia
Receptors, Retinoic Acid - genetics
Retinoic Acid Receptor alpha - genetics
Translocation, Genetic
Citations: Items that this one cites
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:IRF2BP1 breaked in the middle of exon 1 at the c.322 position and fused with RARA intron 2 which is located at 3717 bp upstream of its exon 3. The fusion produced a new intron by forming a paired splicing donor GT at 9 bp downstream of RARA breakpoint and acceptor AG at the 5′ end of RARA exon 3. The IRF2BP1::RARA fusion gene leads a fusion transcript involving IRF2BP1 exon 1 and RARA exon 3, linked by a 9‐bp fragment derived from RARA intron 2. The patient with IRF2BP1::RARA has same clinical features of APL.
ISSN:0361-8609
1096-8652
1096-8652
DOI:10.1002/ajh.27272