McCullough Kristen B, Patnaik Mrinal M
Department of Pharmacy, Mayo Clinic, Rochester, MN, USA.
Division of Hematology, Department of Internal Medicine, Mayo Clinic, Rochester, MN, USA.
Best Pract Res Clin Haematol. 2020 Jun;33(2):101130. doi: 10.1016/j.beha.2019.101130. Epub 2019 Dec 3.
Optimal treatment for myelodysplastic syndrome/myeloproliferative neoplasm (MDS/MPN) overlap syndromes remain to be defined and are currently extrapolated from MDS and MPN. The heterogeneity of these diseases and their rare occurrences add to this void. Supportive care therapies such as erythropoiesis stimulating agents, iron chelation and cytoreductive therapy do not have prospective evidence in these disorders and the only approved treatments, hypomethylating agents, are based on the inclusion of a small number of chronic myelomonocytic leukaemia patients in MDS predominant trials. While allogeneic stem cell transplant remains the only curative option, the median age at presentation (7th decade), comorbidities, risk of disease relapse, and transplant related morbidity and mortality, make this option accessible to < 10% of patients. The advent of next generation sequencing has better defined the genomic landscape and opened the doors for personalized medicine. Herein we focus on recent therapeutic advances and options in MDS/MPN overlap syndromes.
骨髓增生异常综合征/骨髓增殖性肿瘤(MDS/MPN)重叠综合征的最佳治疗方法仍有待确定,目前是从MDS和MPN推断而来。这些疾病的异质性及其罕见性加剧了这一空白。诸如促红细胞生成素、铁螯合和细胞减灭疗法等支持性治疗在这些疾病中缺乏前瞻性证据,而唯一获批的治疗方法——去甲基化药物,是基于在以MDS为主的试验中纳入了少数慢性粒单核细胞白血病患者。虽然异基因干细胞移植仍然是唯一的治愈选择,但就诊时的中位年龄(70多岁)、合并症、疾病复发风险以及移植相关的发病率和死亡率,使得不到10%的患者能够选择这一方案。新一代测序技术的出现更好地界定了基因组格局,为个性化医疗打开了大门。在此,我们重点关注MDS/MPN重叠综合征的最新治疗进展和选择。