A novel truncated fusion gene ETV6::AC010198.2 in post-MPN acute myeloid leukemia caused by del(12)(p13p11)
Jiao Lu, Guanqun Yang, Qiurong Zhang, Man Wang, Lijun Wang, Lu Chen, Haoyue Chen, Xin Jiang, Chunhua Liu, Tong Lin, Qiaoyan Han, Zefa Liu, Shi Zhen, Zhao Zeng, Jinlan Pan, Jiannong Cen, Suning Chen, Zheng Wang, Xingxia Zhang, Miao Sun
TL;DR
A new fusion gene involving ETV6 and a noncoding RNA is linked to a severe form of leukemia with a poor prognosis.
Contribution
Identifies a novel ETV6 fusion partner, AC010198.2, associated with del(12)(p13p11) in post-MPN AML.
Findings
ETV6::AC010198.2 fusion is linked to del(12)(p13p11) in post-MPN AML.
The fusion gene is associated with poor prognosis and disease deterioration.
This fusion may be a key event in MPN transformation to AML.
Abstract
The gene ETV6 has been confirmed to be a genetic susceptibility gene for thrombocytopenia and leukemia. Here, we report a long-chain noncoding RNA AC010198.2 as a novel fusion partner of ETV6, showing a karyotype of del(12)(p13p11), with poor prognosis in a post-MPN AML that has never been reported, which may be an vital initial event in the transformation of MPN to AML and deterioration of disease.
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Taxonomy
TopicsMyeloproliferative Neoplasms: Diagnosis and Treatment · Acute Myeloid Leukemia Research · Chronic Myeloid Leukemia Treatments