10骨髓异常增殖综合征nejm.pdfVIP

T h e n e w e ngl a nd j o u r na l o f m e dic i n e review article MECHANISMS OF DISEASE Myelodysplastic Syndromes Ayalew Tefferi, M.D., and James W. Vardiman, M.D. From the Division of Hematology, Depart- According to the 2008 World Health Organization (WHO) classification system for ment of Medicine, Mayo Clinic, Roches- hematologic cancers, the primary myelodysplastic syndromes are one of five major ter, MN (A.T.); and the Department of 1 Pathology, University of Chicago, Chicago categories of myeloid neoplasms (Table 1). The main feature of myeloid neoplasms (J.W.V.). Address reprint requests to Dr. is stem-cell–derived clonal myelopoiesis with altered proliferation and differentia- Tefferi at the Division of Hematology, tion. The phenotypic diversity of these neoplasms has been ascribed to different Department of Medicine, Mayo Clinic, 200 First St. SW, Rochester, MN 55905, patterns of dysregulated signal transduction caused by transfor mutations or at tefferi.ayalew@mayo.edu. that affect the hematopoietic stem cell. There is increasing evidence that haploin- sufficiency, epigenetic changes, and abnormalities in cytokines, the immune sys- N Engl J Med 2009;361:1872-85. Copyright © 2009 Massachusetts Medical Society. tem, and bone marrow stroma all contribute to the development of the myelodys- plastic syndromes. In this revi