Identification of a novel PRMD16::SKI fusion gene in T-prolymphocytic leukemia
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 po...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2025-08-01
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| Series: | Frontiers in Oncology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fonc.2025.1658257/full |
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| author | Marta Brunetti Hilde Kollsete Gjelberg Hilde Kollsete Gjelberg Håkon Reikvam Håkon Reikvam Francesca Micci |
| author_facet | Marta Brunetti Hilde Kollsete Gjelberg Hilde Kollsete Gjelberg Håkon Reikvam Håkon Reikvam Francesca Micci |
| author_sort | Marta Brunetti |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-eebef6560cd84105ac8a8ef54e7791e2 |
| institution | Kabale University |
| issn | 2234-943X |
| language | English |
| publishDate | 2025-08-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Oncology |
| spelling | doaj-art-eebef6560cd84105ac8a8ef54e7791e22025-08-26T04:13:03ZengFrontiers Media S.A.Frontiers in Oncology2234-943X2025-08-011510.3389/fonc.2025.16582571658257Identification of a novel PRMD16::SKI fusion gene in T-prolymphocytic leukemiaMarta Brunetti0Hilde Kollsete Gjelberg1Hilde Kollsete Gjelberg2Håkon Reikvam3Håkon Reikvam4Francesca Micci5Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, NorwayDepartment of Pathology, Haukeland University Hospital, Bergen, NorwayK.G. Jebsen Centre of Myeloid Malignancies, Institute of Clinical Science, Faculty of Medicine, University of Bergen, Bergen, NorwayK.G. Jebsen Centre of Myeloid Malignancies, Institute of Clinical Science, Faculty of Medicine, University of Bergen, Bergen, NorwayDepartment of Medicine, Haukeland University Hospital, Bergen, NorwaySection for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, NorwayThe 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.https://www.frontiersin.org/articles/10.3389/fonc.2025.1658257/fullT-PLLPRDM16SKIPRMD16::SKIfusion gene |
| spellingShingle | Marta Brunetti Hilde Kollsete Gjelberg Hilde Kollsete Gjelberg Håkon Reikvam Håkon Reikvam Francesca Micci Identification of a novel PRMD16::SKI fusion gene in T-prolymphocytic leukemia Frontiers in Oncology T-PLL PRDM16 SKI PRMD16::SKI fusion gene |
| title | Identification of a novel PRMD16::SKI fusion gene in T-prolymphocytic leukemia |
| title_full | Identification of a novel PRMD16::SKI fusion gene in T-prolymphocytic leukemia |
| title_fullStr | Identification of a novel PRMD16::SKI fusion gene in T-prolymphocytic leukemia |
| title_full_unstemmed | Identification of a novel PRMD16::SKI fusion gene in T-prolymphocytic leukemia |
| title_short | Identification of a novel PRMD16::SKI fusion gene in T-prolymphocytic leukemia |
| title_sort | identification of a novel prmd16 ski fusion gene in t prolymphocytic leukemia |
| topic | T-PLL PRDM16 SKI PRMD16::SKI fusion gene |
| url | https://www.frontiersin.org/articles/10.3389/fonc.2025.1658257/full |
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