Objective: To investigate the clinical characteristics, outcomes and prognosis of adult acute myeloid leukemia (AML) patients with NUP98 gene rearrangement.
Methods: The clinical data of adult AML patients with NUP98 gene rearrangement from January 2015 to December 2019 were retrospectively analyzed, including clinical characteristics, laboratory examination, genetic anomaly, treatment strategy and survival.
Results: A total of 15 patients with NUP98 gene rearrangement were detected in 410 adult AML patients (3.7%). The ratio of male to female among 15 patients was 1.1∶1, and the median age was 43 (17-76) years old. The main FAB types were M2 and M4/M5, and including one unclassified. According to the genetic prognosis, 11 cases were intermediate risk, while 4 cases were high risk. The main type of NUP98 gene rearrangement was NUP98-HOXA9 (13/15, 86.7%). 10 patients underwent next generation sequencing, in which 5 patients showed epigenetic gene mutations, 3 patients showed FLT3-ITD or WT1 mutations, and 2 patients showed no mutation. After induction therapy, 13 of 15 patients achieved complete remission（CR）. 7 of 8 patients with standard induction therapy achieved CR. 7 elder or intolerance patients with demethylation drug and chemotherapy all achieved CR. The median follow-up time was 28 months. The median OS of 15 the patients was 31.5 months (95% CI 10.7%-52.2%), and the median OS of the patients in non-allogeneic hematopoietic stem cell transplantation (Allo-HSCT) group was 18.5 months (95% CI 17.8%-19.1%). The median OS was not reached for the patients in the Allo-HSCT group.
Conclusion: Allo-HSCT can significantly improve the prognosis of AML patients with NUP98 rearrangement. NUP98 rearrangement can be accompanied by epigenetic gene mutations. For the elderly or patients who do not tolerate standard induction therapy, demethylation drugs combined with chemotherapy can achieve good outcomes.
题目: 伴NUP98基因重排的成人急性髓系白血病的临床特点及预后分析.
目的: 探讨伴NUP98基因重排的成人急性髓系白血病（AML）患者的临床特点、治疗效果及预后因素.
方法: 回顾性分析2015年1月至2019年12月解放军总医院第一医学中心血液科收治的伴有NUP98基因重排的成人AML患者的临床表现、实验室检查、遗传学异常、治疗方案及生存情况等临床资料.
结果: 410例成人AML患者中，共检测出15例伴有NUP98基因重排的患者，检出率为3.7%。15例患者的男女比例为1.1∶1，中位年龄43（17－76）岁，FAB分型主要为M2型和M4/M5型，遗传学预后分层11例为中危组，4例为高危组。NUP98基因重排类型主要为NUP98-HOXA9（13/15），10例患者行二代测序（NGS）检测，其中5例伴有多种表观遗传学基因突变，3例伴有FLT3-ITD或WT1突变，2例突变阴性；15例患者诱导治疗后13例获得完全缓解（CR），其中8例行标准诱导治疗后7例获得CR；7例老年或不能耐受标准化疗患者行DCAG方案诱导治疗全部获得CR。中位随访时间28个月，15例患者中位OS为31.5个月（95%CI 10.7%－52.2%），非异基因造血干细胞移植组（6例）中位OS为18.5个月（95%CI 17.8%－19.1%），异基因造血干细胞移植组（9例）中位OS未达到.
结论: 异基因造血干细胞移植可明显改善伴有NUP98重排AML患者的预后，NUP98基因重排可同时伴有多种表观遗传学基因突变，对于老年或不耐受标准诱导治疗的患者应用含去甲基化药物的治疗可获得较好疗效.