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01.12.2014 | Myelodysplastic Syndromes (M Sekeres, Section Editor)

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

verfasst von: Lukasz P. Gondek, Amy E. DeZern

Erschienen in: Current Hematologic Malignancy Reports | Ausgabe 4/2014

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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.
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Zurück zum Zitat Papaemmanuil E, Gerstung M, Malcovati L, Tauro S, Gundem G, Van Loo P, et al. Clinical and biological implications of driver mutations in myelodysplastic syndromes. Blood. 2013;122(22):3616–27. doi:10.1182/blood-2013-08-518886. Mutation analysis in 738 patients identified oncogenic mutations in nearly 80 % of patients with MDS. Subclonal analysis also revealed the set of candidate driver mutations leading to clonal evolution. Leukemia-free survival was closely related to the number of driver mutations and deteriorated as the number of driver mutations increased.PubMedCentralPubMedCrossRef Papaemmanuil E, Gerstung M, Malcovati L, Tauro S, Gundem G, Van Loo P, et al. Clinical and biological implications of driver mutations in myelodysplastic syndromes. Blood. 2013;122(22):3616–27. doi:10.​1182/​blood-2013-08-518886. Mutation analysis in 738 patients identified oncogenic mutations in nearly 80 % of patients with MDS. Subclonal analysis also revealed the set of candidate driver mutations leading to clonal evolution. Leukemia-free survival was closely related to the number of driver mutations and deteriorated as the number of driver mutations increased.PubMedCentralPubMedCrossRef
Metadaten
Titel
I Walk the Line: How to Tell MDS From Other Bone Marrow Failure Conditions
verfasst von
Lukasz P. Gondek
Amy E. DeZern
Publikationsdatum
01.12.2014
Verlag
Springer US
Erschienen in
Current Hematologic Malignancy Reports / Ausgabe 4/2014
Print ISSN: 1558-8211
Elektronische ISSN: 1558-822X
DOI
https://doi.org/10.1007/s11899-014-0224-3

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