Detection Challenges in Clinical Diagnostics
CHAPTER 7: The Diagnosis of Myelodysplastic Syndromes
Published:23 Sep 2013
Special Collection: 2013 ebook collection , 2011-2015 analytical chemistry subject collectionSeries: Detection Science
Alison S. Thomas, Christopher McNamara, 2013. "The Diagnosis of Myelodysplastic Syndromes", Detection Challenges in Clinical Diagnostics, Pankaj Vadgama, Serban Peteu
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Myelodysplastic syndrome (MDS) is a clonal haematopoietic stem‐cell disorder, characterised by peripheral blood cytopenias and a risk of progression to acute myeloid leukaemia. Diagnosis is made primarily on the basis of dysplastic morphology affecting at least 10% of cells in one or more myeloid lineage, following the exclusion of causes of nonclonal dysplasia. Cytogenetic and immunophenotyping data provide supporting evidence of the presence of a clonal abnormality and prognostic information. Whilst the current WHO classification is based on morphological features, increased understanding of the pathophysiology of myelodysplastic syndromes gained from molecular techniques is likely to see their increased use as diagnostic tools and incorporation into future revised classifications.