Background NUP98 rearrangements (NUP98r), associated with various hematologic malignancies, involve more than 30 partner genes. Despite their clinical significance, reports on the clinicopathological characteristics of rare NUP98r remain limited. We investigated the characteristics of patients with myeloid neoplasms harboring NUP98r among those identified as having 11p15 translocation in chromosomal analysis. Methods We retrospectively reviewed results from bone marrow chromosomal analyses conducted between 2011 and 2023 and identified 15 patients with 11p15 translocation. Subsequently, NUP98r were evaluated using FISH and/or reverse transcription PCR, and clinical and laboratory data of the patients were analyzed. Results NUP98r were identified in 11 patients initially diagnosed as having AML (N=8), myelodysplastic syndrome (N=2), or chronic myelomonocytic leukemia (N=1), with a median age of 44 yrs (range, 4-77 yrs). Three patients had a history of chemotherapy. In total, five NUP98 fusions were identified: NUP98::DDX10 (N=3), NUP98::HOXA9 (N=2), NUP98::PSIP1 (N=2), NUP98::PRRX1 (N=1), and NUP98::HOXC11 (N=1). Patients with NUP98r exhibited a poor prognosis, with a median overall survival of 12.0 months (95% confidence interval [CI], 3.4-29.6 months) and a 5-yr overall survival rate of 18.2% (95% CI, 5.2%-63.7%). Conclusions Our study revealed the clinical and genetic characteristics of patients with myeloid neoplasms harboring rare and non-cryptic NUP98r. Given its association with poor prognosis, a comprehensive evaluation is crucial for identifying previously underdiagnosed NUP98r in patients with myeloid neoplasms.

中文翻译：

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与骨髓肿瘤相关的罕见非隐性 NUP98 重排及其不良预后影响。


背景 NUP98 重排 (NUP98r) 与各种血液恶性肿瘤相关，涉及 30 多个伙伴基因。尽管具有临床意义，但有关罕见 NUP98r 临床病理特征的报道仍然有限。我们调查了在染色体分析中被鉴定为具有 11p15 易位的患者中携带 NUP98r 的骨髓肿瘤患者的特征。方法 我们回顾性分析了 2011 年至 2023 年间进行的骨髓染色体分析结果，并确定了 15 名 11p15 易位患者。随后，使用 FISH 和/或逆转录 PCR 评估 NUP98r，并分析患者的临床和实验室数据。结果 11 名最初诊断为 AML（N=8）、骨髓增生异常综合征（N=2）或慢性粒单核细胞白血病（N=1）的患者中发现 NUP98r，中位年龄为 44 岁（范围：4-77 岁） ）。 3名患者有化疗史。总共鉴定了五个 NUP98 融合体：NUP98::DDX10 (N=3)、NUP98::HOXA9 (N=2)、NUP98::PSIP1 (N=2)、NUP98::PRRX1 (N=1) 和NUP98::HOXC11 (N=1)。 NUP98r 患者预后较差，中位总生存期为 12.0 个月（95% 置信区间 [CI]，3.4-29.6 个月），5 年总生存率为 18.2%（95% CI，5.2%-63.7） %）。结论 我们的研究揭示了携带罕见且非隐性 NUP98r 的骨髓肿瘤患者的临床和遗传特征。鉴于 NUP98r 与不良预后相关，综合评估对于识别髓系肿瘤患者中先前诊断不足的 NUP98r 至关重要。