Standardizing the Initial Evaluation for Myelodysplastic Syndromes
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MYELODYSPLASTIC SYNDROMES (M SEKERES, SECTION EDITOR)
Standardizing the Initial Evaluation for Myelodysplastic Syndromes Danielle Marshall & Gail J. Roboz
Published online: 1 November 2013 # Springer Science+Business Media New York 2013
Abstract The myelodysplastic syndromes (MDS) pose a unique diagnostic challenge for clinicians and pathologists due to the clinicopathologic heterogeneity of the disease and overlapping features with other benign and malignant disorders. Currently, the initial evaluation of a patient with suspected MDS centers around a detailed medical history, review of the peripheral blood and bone marrow by an expert hematopathologist and risk stratification using laboratory results, morphology and cytogenetics. More sophisticated technologies, including multi-color flow cytometry, fluorescence in-situ hybridization (FISH), next-generation sequencing, and others are emerging and promise to offer significant refinements in diagnostic, prognostic and, hopefully, therapeutic information. With the incidence and prevalence of MDS increasing worldwide, it is critical for clinicians to optimize the initial evaluation of a patient with suspected disease, using a standard schema, to facilitate accurate diagnosis, risk stratification and treatment. Keywords Myelodysplastic syndrome . Diagnosis . Dysplasia . Cytopenia . Risk stratification . Initial evaluation . Differential diagnosis . Cytogenetics . Morphology . Molecular genetics . Hematologic malignancy
D. Marshall Department of Medicine, Weill Medical College of Cornell University, 515 E. 71st Street, “S” Building, Room S262, New York, NY 10021, USA e-mail: [email protected] G. J. Roboz (*) Leukemia Program, Weill Cornell Medical College and The New York Presbyterian Hospital, 520 East 70th Street, Starr Pavilion, 3rd Floor, New York, NY 10021, USA e-mail: [email protected]
Introduction The myelodysplastic syndromes (MDS) comprise a heterogeneous group of clonal hematopoietic stem cell disorders, characterized by one or more peripheral cytopenias, morphologic dysplasia, ineffective hematopoiesis and a variable propensity to transform to acute myeloid leukemia (AML). The pathogenesis of MDS is incompletely understood and driven by a complex interplay of abnormalities in DNA methylation, apoptosis, differentiation, immune function, signaling, stromal regulation and other processes within the bone marrow microenvironment [1–3]. The clinical and laboratory features of MDS often overlap with other benign and malignant hematological disorders. Also, accurate diagnosis of MDS involves integrating the results from an expanding array of technologically sophisticated diagnostic tools, including multi-color flow cytometry, cytogenetics, fluorescence in situ hybridization (FISH), genome-wide screening and others. Thus, establishing the diagnosis of MDS is challenging for both clinicians and pathologists. The incidence of MDS is estimated to be five per 100,000 individuals per year in the general population, with a sharp increase to 26 per 100,00 per
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