Pati Haraprasad, Kundil Veetil Karthika
Department of Hematology, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, 110029 India.
Indian J Hematol Blood Transfus. 2019 Jan;35(1):3-11. doi: 10.1007/s12288-019-01084-y. Epub 2019 Jan 24.
The MDS/MPN overlap syndromes are recently evolved entities that have been quite difficult to define since their discovery. They have overlapping features with other myeloid neoplasms such as MDS and MPN, which further complicates the task of their diagnosis. The unravelling of their molecular pathogenesis by recent diagnostic innovations was of paramount significance in understanding the mechanism of these syndromes. The identification of the major genetic pathways implicated in their pathogenesis not only will help in their diagnosis, but also will enable development of targeted molecular therapy as well as prognostic markers. This review discus the basic molecular aberrations in MDS/MPN overlap syndromes and their possible future implications.
骨髓增生异常综合征/骨髓增殖性肿瘤（MDS/MPN）重叠综合征是近年来才出现的疾病实体，自发现以来一直很难定义。它们与其他髓系肿瘤如MDS和MPN具有重叠特征，这使得它们的诊断任务更加复杂。最近的诊断创新对其分子发病机制的揭示对于理解这些综合征的机制至关重要。确定其发病机制中涉及的主要遗传途径不仅有助于诊断，还将推动靶向分子治疗以及预后标志物的开发。本综述讨论了MDS/MPN重叠综合征中的基本分子异常及其未来可能的影响。
