Diagnosis, classification, and prognosis of myelodysplastic syndromes

Abstract

Introduction. Myelodysplastic syndromes represent clonal neoplastic disorders characterized by hematological dysplasia, ineffective hematopoiesis, cytopenia, and increased risk of transformation to acute myeloid leukemia. Material and Methods. A literature review was conducted using the following bibliographic databases: Google Scholar, MEDLINE, and Kobson. The recommendations for diagnosis, classification, and prognosis are based on expert opinions grounded on a review of the literature and contemporary recommendations for diagnosis and prognosis in myelodysplastic syndrome. Diagnosis and classification. Diagnosis of myelodysplastic syndrome should be based on detailed patient and family history, physical examination, and comprehensive blood examinations in to exclude all other causes of cytopenia and dysplasia. Mandatory for myelodysplastic syndrome diagnosis is cytology of blood and bone marrow, bone marrow biopsy with immunohistology and cytogenetics. 2016 World Health Organization classification should be used for myelodysplastic syndrome diagnosis. SF1B3 genetic analysis is recommended in patients with suspected myelodysplastic syndrome with ringed sideroblasts and p53 mutation status. Prognosis. Revised International Prognostic Scoring System for myelodysplastic syndrome (IPSS-R) risk score should be defined for every patient in order to determine prognosis. The next-generation sequencing could provide additional diagnostic and prognostic information, particularly in young transplant candidates. Conclusion. Myelodysplastic syndrome diagnosis is based on the 2016 World Health Organization classification. The prognosis should be based on the Revised International Prognostic Scoring System with the possible addition of genetic analysis.