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骨髓增生异常综合征中的性别差异:基因型、表型和结局。

Sex Disparities in Myelodysplastic Syndromes: Genotype, Phenotype, and Outcomes.

机构信息

Department of Malignant Hematology, H. Lee Moffitt Cancer Center & Research Institute, Tampa, FL.

Department of Malignant Hematology, H. Lee Moffitt Cancer Center & Research Institute, Tampa, FL.

出版信息

Clin Lymphoma Myeloma Leuk. 2023 May;23(5):355-359. doi: 10.1016/j.clml.2023.01.007. Epub 2023 Jan 16.

Abstract

Introduction/Background The impact of biological sex on the clinical phenotype, genotype, and outcomes among patients with MDS is not well characterized. Materials and Methods We retrospectively reviewed the clinical and genomic data from male and female patients included in our institutional MDS database at Moffitt Cancer Center. Results Among 4580 patients with MDS, 2922 (66%) were men and 1658 (34%) were women. Women were younger (mean age 66.5 vs. 69 years for men, P < .001) at diagnosis. There were more Hispanic/black women than men (9% vs. 5%, P =<.001). Women had lower hemoglobin and higher platelet counts than men. More women had del 5q/monosomy 5 abnormalities compared to men (P =<.001). Therapy related MDS were more common in women than men (25% vs.17%, P=<.001). On assessment of molecular profile, SRSF2, U2AF1, ASXL1, and RUNX1 mutations were more frequent in men. The median overall survival (mOS) was 37.5 months (mo) for females compared to 35 monthsfor males, (P = .002). The mOS was significantly prolonged for women in lower-risk MDS, but not in higher-risk MDS. Women were more likely to respond to immunosuppression with ATG/CSA than men (38% vs. 19%, P= 0.04).Conclusion Ongoing research is needed for understanding the impact of sex on phenotype, genotype, and outcomes in patients diagnosed with MDS.

摘要

简介/背景 生物学性别对 MDS 患者的临床表型、基因型和结局的影响尚不清楚。

材料和方法 我们回顾性地分析了 Moffitt 癌症中心 MDS 数据库中男性和女性患者的临床和基因组数据。

结果 在 4580 例 MDS 患者中,2922 例(66%)为男性,1658 例(34%)为女性。女性患者的诊断年龄较年轻(平均年龄 66.5 岁 vs. 男性 69 岁,P <.001)。女性中西班牙裔/黑人患者多于男性(9% vs. 5%,P <.001)。女性的血红蛋白水平较低,血小板计数较高。与男性相比,更多的女性存在 del5q/单体 5 异常(P <.001)。女性患者中治疗相关性 MDS 比男性更常见(25% vs. 17%,P <.001)。在评估分子谱时,男性中 SRSF2、U2AF1、ASXL1 和 RUNX1 突变更为常见。女性的总生存期(mOS)中位数为 37.5 个月,而男性为 35 个月,(P <.001)。低危 MDS 患者的 mOS 明显延长,但高危 MDS 患者的 mOS 无显著延长。与男性相比,女性接受 ATG/CSA 免疫抑制治疗的反应率更高(38% vs. 19%,P = 0.04)。

结论 需要进一步开展研究以了解性别对 MDS 患者表型、基因型和结局的影响。

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