Hereditary Predispositions to Myelodysplastic Syndrome
Identifieur interne : 001019 ( Main/Merge ); précédent : 001018; suivant : 001020Hereditary Predispositions to Myelodysplastic Syndrome
Auteurs : Sarah A. Bannon ; Courtney D. Dinardo [États-Unis]Source :
- International Journal of Molecular Sciences [ 1422-0067 ] ; 2016.
Abstract
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
Url:
DOI: 10.3390/ijms17060838
PubMed: 27248996
PubMed Central: 4926372
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Hereditary Predispositions to Myelodysplastic Syndrome</title>
<author><name sortKey="Bannon, Sarah A" sort="Bannon, Sarah A" uniqKey="Bannon S" first="Sarah A." last="Bannon">Sarah A. Bannon</name>
<affiliation><nlm:aff id="af1-ijms-17-00838">Department of Clinical Cancer Genetics, The University of Texas M.D. Anderson Cancer Center, 1515 Holcombe Blvd, Houston, TX 77030, USA;<email>sabannon@mdanderson.org</email>
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<author><name sortKey="Dinardo, Courtney D" sort="Dinardo, Courtney D" uniqKey="Dinardo C" first="Courtney D." last="Dinardo">Courtney D. Dinardo</name>
<affiliation wicri:level="1"><nlm:aff id="af2-ijms-17-00838">Department of Leukemia, The University of Texas M.D. Anderson Cancer Center, 1515 Holcombe Blvd, Houston, TX 77030, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Leukemia, The University of Texas M.D. Anderson Cancer Center, 1515 Holcombe Blvd, Houston, TX 77030</wicri:regionArea>
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<series><title level="j">International Journal of Molecular Sciences</title>
<idno type="eISSN">1422-0067</idno>
<imprint><date when="2016">2016</date>
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<front><div type="abstract" xml:lang="en"><p>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 <italic>RUNX1</italic>
, <italic>ANKRD26</italic>
, <italic>DDX41</italic>
, <italic>ETV6</italic>
, <italic>GATA2</italic>
, and <italic>SRP72</italic>
. As these syndromes are increasingly appreciated in even apparently <italic>de novo</italic>
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.</p>
</div>
</front>
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