Brunetti Marta, Gjelberg Hilde Kollsete, Reikvam Håkon, Micci Francesca
Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.
Department of Pathology, Haukeland University Hospital, Bergen, Norway.
Front Oncol. 2025 Aug 26;15:1658257. doi: 10.3389/fonc.2025.1658257. eCollection 2025.
The presence of the 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 () gene and exon 2 of the oncogene V-Ski Avian Sarcoma Viral Oncogene Homolog () 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.
首次在一名T原淋巴细胞白血病（T-PLL）患者中描述了融合基因的存在，该患者病程长且惰性，疾病发展后期需要治疗。通过RNA测序检测到融合转录本，并通过逆转录聚合酶链反应和桑格/循环测序进行验证。嵌合体发生在PR/SET结构域16（PRDM16）基因的外显子1和癌基因V-Ski禽肉瘤病毒癌基因同源物（SKI）基因的外显子2之间。这一发现为包括融合基因在内的基因改变在T-PLL发生发展中的作用提供了见解，并可能为该疾病开发有效且精准的靶向治疗方法。
