Objective: To investigate the clinical characteristics, cytogenetics, molecular biology, treatment, and prognosis of patients with therapy-related myelodysplastic syndrome and acute myeloid leukemia (t-MDS/AML) secondary to malignancies. Methods: The clinical data of 86 patients with t-MDS/AML in West China Hospital of Sichuan University between January 2010 and April 2023 were retrospectively analyzed. The clinical characteristics, primary tumor types, and tumor-related therapies were analyzed. Results: The study enrolled a total of 86 patients with t-MDS/AML, including 67 patients with t-AML, including 1 patient with M(0), 6 with M(1), 27 with M(2), 9 with M(3), 12 with M(4), 10 with M(5), 1 with M(6), and 1 with M(7). Sixty-two patients could be genetically stratified, with a median overall survival (OS) of 36 (95% CI 22-52) months for 20 (29.9%) patients in the low-risk group and 6 (95% CI 3-9) months for 10 (14.9%) in the intermediate-risk group. The median OS time was 8 (95% CI 1-15) months in 32 (47.8%) patients in the high-risk group. For patients with non-acute promyelocytic leukemia (APL) and AML, the median OS of the low-risk group was 27 (95% CI 18-36) months, which was significantly longer than that of the non-low-risk group (χ(2)=5.534, P=0.019). All 9 APL cases were treated according to the initial treatment, and the median OS was not reached, and the 1-, 2-, and 3-year OS rates were 100.0%, (75.0±6.2) %, and (75.0±6.2) % respectively. Of the 58 patients with non-APL t-AML (89.7%), 52 received chemotherapy, and 16 achieved complete remission (30.8%) after the first induction chemotherapy. The 1-, 2-, and 3-year OS rates of the non-APL t-AML group were (42.0 ± 6.6) %, (22.9±5.7) %, and (13.4±4.7) %, respectively. The median OS of patients who achieved remission was 24 (95% CI 18-30) months, and the median OS of those who did not achieve remission was 6 (95% CI 3-9) months (χ(2)=10.170, P=0.001). Bone marrow CR was achieved in 7 (53.8%) of 13 patients treated with vineclar-containing chemotherapy, with a median OS of 12 (95% CI 9-15) months, which was not significantly different from that of vineclar-containing chemotherapy (χ(2)=0.600, P=0.437). In 19 patients with t-MDS, the 1-, 2-, and 3-year OS rates were (46.8±11.6) %, (17.5±9.1) %, and (11.7±9.1) % with a median OS of 12 (95% CI 7-17) months, which was not significantly different from that in t-AML (χ(2)=0.232, P=0.630) . Conclusions: Breast cancer, bowel cancer, and other primary tumors are common in patients with t-MDS/AML, which have a higher risk of adverse genetics. Patients with APL had a high induction remission rate and a good long-term prognosis, whereas patients without APL had a low remission rate and a poor long-term prognosis.
目的： 探讨肿瘤治疗相关骨髓增生异常综合征和急性髓系白血病（t-MDS/AML）的临床特征、分子生物学特点、疗效以及预后。 方法： 回顾性分析2010年1月至2023年4月四川大学华西医院86例肿瘤t-MDS/AML患者临床资料，分析肿瘤t-MDS/AML患者的临床特征、分子生物学特点、治疗及其生存情况。 结果： 研究共纳入86例肿瘤t-MDS/AML患者，原发肿瘤类型主要包括乳腺癌（27.9%）、肠癌（17.4%）、淋巴瘤（12.8%）、肺癌（11.6%）。t-AML患者67例，其中M(0) 1例、M(1) 6例、M(2) 27例、M(3) 9例、M(4) 12例、M(5) 10例、M(6) 1例、M(7) 1例。62例患者可进行遗传学分层，20例（29.9%）低危组患者中位总生存（OS）时间为36（95%CI 22~52）个月；10例（14.9%）中危组患者中位OS时间为6（95%CI 3~9）个月；32例（47.8%）高危患者中位OS时间为8（95%CI 1~15）个月。非低危组t-AML患者中位OS时间为8（95%CI 3~13）个月，明显短于低危组（χ(2)＝13.856，P<0.001）；非急性早幼粒细胞白血病（APL）的t-AML低危组患者中位OS时间为27（95%CI 18~36）个月，长于非低危组（Breslow，χ(2)＝5.534，P＝0.019），尤其早期OS率差异显著。9例APL病例均按照原发初治APL诱导维持治疗，中位OS时间未达到，1、2、3年OS率分别为100.0%、（75.0±6.2）%、（75.0±6.2）%。58例非APL的t-AML患者中，52例（89.7%）接受化疗，首次诱导化疗完全缓解16例（30.8%）。非APL的t-AML患者的1、2、3年OS率分别为（42.0±6.6）%、（22.9±5.7）%、（13.4±4.7）%。经化疗达到骨髓缓解的患者中位OS时间显著长于未能缓解的患者24（95%CI 18~30）个月对6（95%CI 3~9）个月，（χ(2)＝6.087，P＝0.014）。13例患者使用含维奈克拉方案化疗骨髓CR 7例（53.8%），中位OS时间为12（95%CI 9~15）个月，和不含维奈克拉方案化疗对比差异无统计学意义（χ(2)＝2.343，P＝0.126）。19例t-MDS患者中，1、2、3年OS率分别为（46.8±11.6）%、（17.5±9.1）%、（11.7±9.1）%，中位OS时间为12（95%CI 7~17）个月，与t-AML相比差异无统计学意义（χ(2)＝0.656，P＝0.418）。 结论： 临床上t-MDS/AML的原发肿瘤为乳腺癌、肠癌等较为常见，具有较高的不良遗传学风险。其中APL患者的诱导缓解率高、长期预后较好，非APL患者缓解率低且预后不良。.
Keywords: Myelodysplastic syndrome; Therapy-related acute myeloid leukemia; Tumor.