A diagnosis of discernment: Identifying a novel ATRX mutation in myelodysplastic syndrome with acquired α-thalassemia

Cancer Genetics
Jedrzej WykretowiczRami Khoriaty

Abstract

Myelodysplastic syndromes (MDS) are a heterogeneous category of myeloid neoplasms that represent the most common class of acquired bone marrow failure syndromes in adults. MDS is typically associated with a hypoproliferative macrocytic anemia, but atypical findings on initial diagnostic evaluations can raise concern for a distinct pathophysiological process and lead to the investigation of alternative etiologies. Here, we report a case of MDS with a concomitant hypoproliferative microcytic and hypochromic anemia that led to the identification of acquired hemoglobin H due to a novel somatic ATRX mutation.

References

Mar 1, 1996·Medicine·R J Gibbons, D R Higgs
Jan 28, 2006·Mayo Clinic Proceedings·David P Steensma, John M Bennett
Aug 18, 2006·Acta Haematologica·Elena SerranoJosep F Nomdedéu
Jan 30, 2008·The Journal of Cell Biology·Kieran RitchieNathalie G Bérubé
Apr 15, 2008·Human Mutation·Richard J GibbonsJoanne Traeger-Synodinos
May 10, 2008·Blood·Stephen D Nimer
Jul 7, 2009·Hematology/oncology Clinics of North America·Phuong L Nguyen
Nov 6, 2009·The New England Journal of Medicine·Ayalew Tefferi, James W Vardiman
Apr 1, 2010·Nature Methods·Ivan A AdzhubeiShamil R Sunyaev
Jul 2, 2010·Cancer Biology & Therapy·Matthew S Davids, David P Steensma
Sep 15, 2012·Journal of Cell Science·Alyshia NewhartSusan M Janicki
Oct 19, 2013·Blood·Mario CazzolaLuca Malcovati
Dec 12, 2013·Biomarkers in Medicine·Jan Traeger-Synodinos, Cornelis L Harteveld
May 29, 2015·American Journal of Hematology·Charles HerbauxUNKNOWN GFM (Groupe Francophone des Myelodysplasies)
Jul 30, 2016·Blood·UNKNOWN University of Chicago Hematopoietic Malignancies Cancer Risk Team
Aug 19, 2016·Nature·Monkol LekUNKNOWN Exome Aggregation Consortium

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