I Walk the Line: How to Tell MDS From Other Bone Marrow Failure Conditions

Research output: Contribution to journalReview articlepeer-review

7 Scopus citations


Myelodysplastic syndromes (MDS) are clonal hematopoietic stem cell disorders characterized by peripheral cytopenias and ineffective hematopoiesis. MDS is an example of an age-related malignancy and its increasing prevalence and incidence can be attributed to a greater life expectancy in developed countries. Although frequently encountered in hematology/oncology clinics, MDS may constitute a diagnostic challenge especially with equivocal bone marrow morphology. Certain syndromes of bone marrow failure (BMF) may mimic MDS and formulating a correct diagnosis is vital for adequate prognostication as well as therapeutic approaches. Metaphase karyotyping (MK) is a very important diagnostic tool and marker of prognosis and can be an indicator of response to certain therapies. Unfortunately, chromosomal abnormalities may only be found in approximately 50 % of patients with MDS. In this review, we discuss the diagnostic approaches to patients with pancytopenia with a particular focus on the growing number of somatic mutations through new molecular testing.

Original languageEnglish (US)
Pages (from-to)389-399
Number of pages11
JournalCurrent Hematologic Malignancy Reports
Issue number4
StatePublished - Dec 2014


  • Aplastic anemia
  • Bone marrow failure
  • Large granular lymphocytosis
  • Molecular markers
  • Myelodysplastic syndrome
  • Paroxysmal nocturnal hemoglobinuria
  • SNP arrays
  • Somatic mutations

ASJC Scopus subject areas

  • Hematology
  • Oncology
  • Cancer Research


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