Myelodysplastic Syndrome: Diagnosis and Screening

Francisco P. Tria, Daphne C. Ang, Guang Fan

Research output: Contribution to journalReview articlepeer-review


Myelodysplastic syndromes (MDS) are heterogeneous groups of clonal myeloid disorders characterized by unexplained persistent peripheral blood (PB) cytopenia(s) of one or more of the hematopoietic lineages, or bone marrow (BM) morphologic dysplasia in hematopoietic cells, recurrent genetic abnormalities, and an increased risk of progression to acute myeloid leukemia (AML). In the past several years, diagnostic, prognostic, and therapeutic approaches have substantially improved with the development of Next Generation Sequencing (NGS) diagnostic testing and new medications. However, there is no single diagnostic parameter specific for MDS, and correlations with clinical information, and laboratory test findings are needed to reach the diagnosis.

Original languageEnglish (US)
Article number1581
Issue number7
StatePublished - Jul 2022


  • cytogenetics
  • myelodysplastic syndromes
  • next generation sequencing

ASJC Scopus subject areas

  • Clinical Biochemistry


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