title: I walk the line: how to tell MDS from other bone marrow failure conditions.
abstract: 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.
authors: Department of Oncology, Division of Hematological Malignancies, Johns Hopkins University, 1650 Orleans St, CRB1-290, Baltimore, MD, 21231, USA, lgondek1@jhmi.edu.
authors: Lukasz P
authors: LP
authors: Gondek
authors: Amy E
authors: AE
authors: DeZern
mesh_terms: D001853:Bone Marrow / Q000473:pathology*; D001855:Bone Marrow Diseases / Q000175:diagnosis* / Q000473:pathology / Q000628:therapy*; D006801:Humans; D015477:Leukemia, Myelomonocytic, Chronic / Q000175:diagnosis* / Q000453:epidemiology; D009190:Myelodysplastic Syndromes / Q000473:pathology / Q000628:therapy*; D011379:Prognosis