Recurrent Novel P2RY8/IGH Translocations in B-Lymphoblastic Leukemia/Lymphoma.

Frontiers in oncology(2022)

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摘要
Translocations involving the immunoglobulin heavy chain () locus are common abnormalities in B-lymphoblastic leukemia/lymphoma (B-ALL) and multiple myeloma. These rearrangements result in a juxtaposition of enhancers to the vicinity of oncogenes, such as and , leading to the upregulation of oncogenes. Here, we identified recurrent novel translocations in three B-ALL patients by transcriptome sequencing. Noncoding exon 1 of was translocated to different sites of the gene, resulting in transcripts of , , and . However, a high expression level of truncated was observed in the patients compared with healthy donors, which might be related to the aggressive clinical course and inferior outcome. In summary, we described recurrent novel translocations with high expression levels of , which may contribute to the guidelines for clinical diagnosis and treatment.
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关键词
B-lymphoblastic leukemia/lymphoma,IGH,P2RY8,fusion gene,translocation
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