Current Hematologic Malignancy Reports

, Volume 9, Issue 4, pp 389–399

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

Myelodysplastic Syndromes (M Sekeres, Section Editor)

DOI: 10.1007/s11899-014-0224-3

Cite this article as:
Gondek, L.P. & DeZern, A.E. Curr Hematol Malig Rep (2014) 9: 389. doi:10.1007/s11899-014-0224-3


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.


Bone marrow failureMyelodysplastic syndromeAplastic anemiaLarge granular lymphocytosisParoxysmal nocturnal hemoglobinuriaMolecular markersSNP arraysSomatic mutations

Copyright information

© Springer Science+Business Media New York 2014

Authors and Affiliations

  1. 1.Department of Oncology, Division of Hematological MalignanciesJohns Hopkins UniversityBaltimoreUSA
  2. 2.Department of Oncology, Division of Hematological MalignanciesJohns Hopkins UniversityBaltimoreUSA