BRIEF RESEARCH REPORT article
Front. Oncol.
Sec. Hematologic Malignancies
Volume 15 - 2025 | doi: 10.3389/fonc.2025.1658257
Identification of a novel PRMD16::SKI fusion gene in T-prolymphocytic Leukemia
Provisionally accepted
- 1Oslo University Hospital, Oslo, Norway
- 2Oslo universitetssykehus Seksjon for kreftcytogenetikk, Oslo, Norway
- 3K.G. Jebsen Centre of Myeloid Malignancies, Institute of Clinical Science, Faculty of Medicine, Universitetet i Bergen, Bergen, Norway
- 4Department of Pathology, Haukeland Universitetssjukehus, Bergen, Norway
- 5Department of Medicine, Haukeland Universitetssjukehus, Bergen, Norway
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The presence of the PRDM16::SKI fusion gene was described, for the first time, in a T prolymphocytic leukemia (T-PLL) patient with a long indolent period and a late development treatment requiring disease. The fusion transcript was detected by RNA sequencing and validated by reverse transcriptase polymerase chain reaction and Sanger/Cycle sequencing. The chimera occurs between exon 1 of the PR/SET Domain 16 (PRDM16) gene and exon 2 of the oncogene V-Ski Avian Sarcoma Viral Oncogene Homolog (SKI) gene. The finding provides insight into the role of genetic alterations, including fusion genes, in development and progression of T-PLL and may possibly lead to the development of effective and precise targeted therapy for this disease.
Keywords: T-PLL, PRDM16, Ski, PRMD16::SKI fusion gene, fusion gene
Received: 02 Jul 2025; Accepted: 31 Jul 2025.
Copyright: © 2025 Brunetti, Kollsete Gjelberg, Reikvam and Micci. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Marta Brunetti, Oslo University Hospital, Oslo, Norway
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