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Int. J. Mol. Sci. 2016, 17(6), 838;

Hereditary Predispositions to Myelodysplastic Syndrome

Department of Clinical Cancer Genetics, The University of Texas M.D. Anderson Cancer Center, 1515 Holcombe Blvd, Houston, TX 77030, USA
Department of Leukemia, The University of Texas M.D. Anderson Cancer Center, 1515 Holcombe Blvd, Houston, TX 77030, USA
Author to whom correspondence should be addressed.
Academic Editor: Vivienne Rebel
Received: 1 April 2016 / Revised: 9 May 2016 / Accepted: 20 May 2016 / Published: 30 May 2016
(This article belongs to the Special Issue Molecular and Cellular Mechanisms of Myelodysplastic Syndrome)
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Myelodysplastic syndromes (MDS) are heterogeneous clonal hematopoietic disorders characterized by ineffective hematopoiesis, bone marrow dysplasia, and peripheral cytopenias. Familial forms of MDS have traditionally been considered rare, especially in adults; however, the increasing availability of somatic and germline genetic analyses has identified multiple susceptibility loci. Bone marrow failure syndromes have been well-described in the pediatric setting, e.g., Fanconi anemia (FA), dyskeratosis congenita (DC), Diamond–Blackfan anemia (DBA), and Shwachman–Diamond syndrome (SBS), hallmarked by clinically-recognizable phenotypes (e.g., radial ray anomalies in FA) and significantly increased risks for MDS and/or acute myeloid leukemia (AML) in the setting of bone marrow failure. However, additional families with multiple cases of MDS or AML have long been reported in the medical literature with little known regarding potential hereditary etiologies. Over the last decade, genomic investigation of such families has revealed multiple genes conferring inherited risks for MDS and/or AML as the primary malignancy, including RUNX1, ANKRD26, DDX41, ETV6, GATA2, and SRP72. As these syndromes are increasingly appreciated in even apparently de novo presentations of MDS, it is important for hematologists/oncologists to become familiar with these newly-described syndromes. Herein, we provide a review of familial MDS syndromes and practical aspects of management in patients with predisposition syndromes. View Full-Text
Keywords: MDS; germline; predisposition; hereditary; familial; genetic counseling MDS; germline; predisposition; hereditary; familial; genetic counseling

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Bannon, S.A.; DiNardo, C.D. Hereditary Predispositions to Myelodysplastic Syndrome. Int. J. Mol. Sci. 2016, 17, 838.

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