![]() The French-American-British group (FAB) coined the term “myelodysplastic syndromes” in a series of proposals on the acute leukemias in 1976 and later expanded the FAB classification in the 1980s. It not until the 1970s when Saarni and Linman recognized the disease as a primary bone marrow disorder characterized by decreased hematopoietic precursor maturation and bone marrow hypercellularity. The definition was expanded to include multilineage cytopenia in the 1950s. In the late 1940s, it was thought that the disease progresses to leukemia and the term “preleukemia” was applied. The term “anemia pseudoaplastica” was one of the earliest descriptions for MDS. MDS is more than one disease or subsets of disorders with different driving biologic features that share a common pathologic phenotype “dysplasia.” The classification of MDS directly reflects the understanding of the disease and it has been an evolving process over many years.Īt the beginning of the past century the observation was made that a group of patients had a form of anemia refractory to available treatments at that time. The diagnosis of the disease requires demonstration of cytologic dysplasia in one or more of the different bone marrow cell lines. Myelodysplastic syndromes (MDS) are bone marrow failure disorders with resultant cytopenias and a tendency to progress to acute myeloid leukemia (AML). This article reviews MDS classification and risk stratification highlighting differences between the various systems. It is hoped that in the future classification and risk stratification will be based on underlying pathobiology of different disease subsets and molecular signatures where the pathologic classification represents their phenotype. The classification of MDS reflects the understanding of the disease. Cytogenetic results further demonstrate an in vitro preferential growth of the cells with a high level of aneuploidy suggesting a selective advantage for polysomy 8 cells.Myelodysplastic syndromes (MDS) are spectrum of bone marrow failure disorders that share a common pathologic feature: cytologic dysplasia. Age significantly reduced median survival, but associated cytogenetic abnormalities did not modify it. Our study demonstrates the existence of a polysomy 8 syndrome, which represents a subtype of AML, MDS, and MPD characterized by a high incidence of secondary diseases, myelomonocytic or monocytic involvement in AML and poor overall survival (6 months). No cryptic MLL rearrangements were found in cases in which polysomy 8 was the only karyotypic change. In 60.7% of patients, polysomy 8 occurred as part of complex changes (16.2% with 11q23 rearrangements). Tetrasomy 8 was the most common presentation of polysomy 8. In an attempt to better characterize the clinical and hematological profile of this cytogenetic entity, our data were combined with those of 105 published patients. ![]() ![]() Here we report on a series of 12 patients with acute myeloid leukemia (AML), myelodysplastic syndrome (MDS), or myeloproliferative disorder (MPD) associated with polysomy 8 as detected by conventional cytogenetics and fluorescence in situ hybridization (FISH). Tetrasomy, pentasomy, and hexasomy 8 (polysomy 8) are relatively rare compared to trisomy 8.
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