肿瘤细胞治疗研究
英文原题：Rare NUP98::SETBP1 fusion transcript in a refractory adult T-cell lymphoblastic lymphoma.
T淋巴母细胞淋巴瘤（T-LBL）是一种侵袭性T淋巴前体细胞恶性肿瘤，罕见与核孔蛋白98（NUP98）基因重排同时发生。
T淋巴母细胞淋巴瘤（T-LBL）是一种侵袭性T淋巴前体细胞恶性肿瘤，极少与核孔蛋白98（NUP98）基因重排同时发生。NUP98::SETBP1融合基因首次在一例新发T细胞急性淋巴细胞白血病（T-ALL）患者中被报道。然而，该融合基因尚未在T-LBL患者中被报道。我们报道了一例携带NUP98::SETBP1融合基因的T-LBL病例。该NUP98::SETBP1融合基因通过RNA测序（RNA-seq）在患者骨髓细胞中被发现，并通过直接测序和逆转录聚合酶链反应（RT-PCR）在多种组织中得到验证。遗憾的是，尽管采用了多种治疗方法，包括传统化疗、抗CD7 CAR-T细胞治疗和CD38靶向治疗，患者病情未见改善，最终因疾病进展死亡。据我们所知，这是首例报道T-LBL中涉及NUP98和SETBP1基因的易位。有必要收集更多病例并开展精心设计的实验，以确定该融合在其他T-LBL队列中的可重复性，并证实其作为T-LBL中一种新型致癌重排的作用，为这类患者的管理提供依据。
T-lymphoblastic lymphoma (T-LBL) is an aggressive malignancy of T-lymphoid precursors, rarely co-occurring with consequent rearrangement of nucleoporin 98 ( NUP98 ) gene. The NUP98::SETBP1 fusion gene was first reported in a de novo T-cell acute lymphoblastic leukemia (T-ALL) patient. However, it has not yet been reported in patients with T-LBL. We report a case of T-LBL with the NUP98::SETBP1 fusion gene. The NUP98::SETBP1 fusion gene was discovered by RNA sequencing (RNA-seq) in the patient's bone marrow cells and verified in various tissues through direct sequencing and reverse transcriptase polymerase chain reaction (RT-PCR). Unfortunately, despite the use of various treatment methods, including traditional chemotherapy, anti-CD7 CAR-T cell therapy, and CD38-targeted therapy, the patient showed no improvement and ultimately died from disease progression. To our knowledge, this is the first report of the translocation involving NUP98 and SETBP1 genes in T-LBL. It is necessary to collect additional cases and conduct carefully designed experiments to establish the recurrence of this fusion in other T-LBL cohorts and confirm its role as a novel oncogenic rearrangement in T-LBL, providing a basis for managing such patients.
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