1. Rare NUP98::PRRX1 fusion transcript in a therapy-related acute myeloid leukemia associated with del(7q) following chemotherapy for diffuse large B-cell lymphoma.
- Author
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Wang, Yanfang, Zhang, Zhenhao, Wang, Lingli, Wang, Hua, and Dong, Fei
- Subjects
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DIFFUSE large B-cell lymphomas , *ACUTE myeloid leukemia , *KARYOTYPES , *B cells , *HEMATOPOIETIC stem cell transplantation , *GENE rearrangement , *GENE fusion , *MYC oncogenes , *RECURRENT neural networks - Abstract
• A rare NUP98::PRRX1 fusion gene in therapy-related acute myeloid leukemia. • NUP98::PRRX1 fusion gene may be caused by topoisomerase-Ⅱ inhibitors. • BCL2 inhibitors may have selective efficacy in patients with NUP98::PRRX1 fusion gene. Therapy-related acute myeloid leukemia (t-AML) is increasingly recognized as a treatment complication in patients receiving chemotherapy, radiotherapy, or immunosuppressive agents for primary neoplasms. NUP98::PRRX1 fusion gene, caused by t(1;11)(q23;p15), is a rare recurrent cytogenetic alteration in leukemia, and only seven cases with NUP98::PRRX1 were reported so far. A 53-year-old female patient was diagnosed with t-AML after 20 months of complete remission (CR) from diffuse large B-cell lymphoma (DLBCL). Conventional karyotype, fluorescence in situ hybridization (FISH), and DNA/RNA next-generation sequence (NGS) were used to detect genetic abnormalities. Abnormal karyotype of 46, XX, t(1;11)(q25;p15), del(7)(q22) was revealed. NUP98 gene rearrangement and del(7)(q22) were verified by FISH. Further, RNA NGS detected NUP98::PRRX1 fusion transcript, and DNA NGS detected KRAS gene mutation. The patient achieved CR after a combined chemotherapy regimen containing BCL-2 inhibitor and underwent allogeneic hematopoietic stem cell transplantation (allo-HSCT), but she died of leukemia recurrence 14 months later. Novel targeted drugs may provide opportunities for patients with NUP98::PRRX1 to undergo allo-HSCT. However, since the cases of carrying the NUP98::PRRX1 are limited, more patients with this genetic change need to be investigated to elucidate the prognostic significance. [ABSTRACT FROM AUTHOR]
- Published
- 2024
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