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.

中文翻译：

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与弥漫性大 B 细胞淋巴瘤化疗后 del(7q) 相关的治疗相关急性髓系白血病中罕见的 NUP98::PRRX1 融合转录本

治疗相关的急性髓系白血病（t-AML）越来越被认为是接受化疗、放疗或免疫抑制剂治疗原发性肿瘤的患者的一种治疗并发症。由t(1;11)(q23;p15)引起的NUP98::PRRX1融合基因是白血病中罕见的复发性细胞遗传学改变，迄今为止仅报道了7例携带NUP98::PRRX1的病例。一名 53 岁女性患者在弥漫性大 B 细胞淋巴瘤 (DLBCL) 完全缓解 (CR) 20 个月后被诊断患有 t-AML。常规核型、荧光原位杂交（FISH）和DNA/RNA下一代序列（NGS）用于检测遗传异常。发现46、XX、t(1;11)(q25;p15)、del(7)(q22)异常核型。通过FISH验证NUP98基因重排和del(7)(q22)。此外，RNA NGS检测NUP98::PRRX1融合转录本，DNA NGS检测KRAS基因突变。患者在接受含BCL-2抑制剂的联合化疗方案后达到CR，并接受异基因造血干细胞移植（allo-HSCT），但14个月后因白血病复发死亡。新型靶向药物可能为 NUP98::PRRX1 患者提供接受异基因造血干细胞移植的机会。然而，由于携带NUP98::PRRX1的病例有限，因此需要对更多具有这种基因改变的患者进行研究以阐明其预后意义。