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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Genetic Predisposition Syndromes: When Should They Be Considered In The Work-up of MDS?</title><author><name sortKey="Babushok, Daria V" sort="Babushok, Daria V" uniqKey="Babushok D" first="Daria V." last="Babushok">Daria V. Babushok</name></author><author><name sortKey="Bessler, Monica" sort="Bessler, Monica" uniqKey="Bessler M" first="Monica" last="Bessler">Monica Bessler</name></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">25659730</idno><idno type="pmc">4323616</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4323616</idno><idno type="RBID">PMC:4323616</idno><idno type="doi">10.1016/j.beha.2014.11.004</idno><date when="2014">2014</date><idno type="wicri:Area/Pmc/Corpus">003459</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">003459</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Genetic Predisposition Syndromes: When Should They Be Considered In The Work-up of MDS?</title><author><name sortKey="Babushok, Daria V" sort="Babushok, Daria V" uniqKey="Babushok D" first="Daria V." last="Babushok">Daria V. Babushok</name></author><author><name sortKey="Bessler, Monica" sort="Bessler, Monica" uniqKey="Bessler M" first="Monica" last="Bessler">Monica Bessler</name></author></analytic><series><title level="j">Best practice & research. Clinical haematology</title><idno type="ISSN">1521-6926</idno><idno type="eISSN">1532-1924</idno><imprint><date when="2014">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p id="P2">Myelodysplastic syndromes (MDS) are clonal hematopoietic disorders characterized by cytopenias, ineffective hematopoiesis, myelodysplasia, and an increased risk of acute myeloid leukemia (AML). While sporadic MDS is primarily a disease of the elderly, MDS in children and young and middle-aged adults is frequently associated with underlying genetic predisposition syndromes. In addition to the classic hereditary bone marrow failure syndromes (BMFS) such as Fanconi Anemia and Dyskeratosis Congenita, in recent years there has been an increased awareness of non-syndromic familial MDS/AML predisposition syndromes such as those caused by mutations in <italic>GATA2</italic>, <italic>RUNX1</italic>, <italic>CEBPA</italic>, and <italic>SRP72</italic> genes. Here, we will discuss the importance of recognizing an underlying genetic predisposition syndrome a patient with MDS, will review clinical scenarios when genetic predisposition should be considered, and will provide a practical overview of the common BMFS and familial MDS/AML syndromes which may be encountered in adult patients with MDS.</p></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
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<front><journal-meta><journal-id journal-id-type="nlm-journal-id">101120659</journal-id><journal-id journal-id-type="pubmed-jr-id">22475</journal-id><journal-id journal-id-type="nlm-ta">Best Pract Res Clin Haematol</journal-id><journal-id journal-id-type="iso-abbrev">Best Pract Res Clin Haematol</journal-id><journal-title-group><journal-title>Best practice & research. Clinical haematology</journal-title></journal-title-group><issn pub-type="ppub">1521-6926</issn><issn pub-type="epub">1532-1924</issn></journal-meta><article-meta><article-id pub-id-type="pmid">25659730</article-id><article-id pub-id-type="pmc">4323616</article-id><article-id pub-id-type="doi">10.1016/j.beha.2014.11.004</article-id><article-id pub-id-type="manuscript">NIHMS645334</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Genetic Predisposition Syndromes: When Should They Be Considered In The Work-up of MDS?</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Babushok</surname><given-names>Daria V.</given-names></name></contrib><contrib contrib-type="author"><name><surname>Bessler</surname><given-names>Monica</given-names></name></contrib><aff id="A1">Comprehensive Bone Marrow Failure Center, Division of Hematology, Department of Pediatrics, Children's Hospital of Philadelphia and Division of Hematology, Department of Medicine, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania, USA</aff></contrib-group><author-notes><corresp id="cor1"><bold>Corresponding Author</bold>: Monica Bessler, M.D., PhD., The Children's Hospital of Philadelphia, Abramson Research Center, 3615 Civic Center Blvd, ARC302, Philadelphia, PA 19104, USA, Tel.: +1-267-426-9889, Fax: +1-267-426-9892, <email>besslerm@email.chop.edu</email></corresp><fn id="FN1"><p id="P1"><bold>Co-Author</bold>: Daria V. Babushok, M.D., Ph.D., The Children's Hospital of Philadelphia, Abramson Research Center, 3615 Civic Center Blvd, ARC302, Philadelphia, PA 19104, USA, Tel.: +1-267-426-9888, Fax: +1-267-426-9892, <email>daria.babushok@uphs.upenn.edu</email></p></fn></author-notes><pub-date pub-type="nihms-submitted"><day>30</day><month>11</month><year>2014</year></pub-date><pub-date pub-type="epub"><day>12</day><month>11</month><year>2014</year></pub-date><pub-date pub-type="ppub"><month>3</month><year>2015</year></pub-date><pub-date pub-type="pmc-release"><day>01</day><month>3</month><year>2016</year></pub-date><volume>28</volume><issue>1</issue><fpage>55</fpage><lpage>68</lpage><pmc-comment>elocation-id from pubmed: 10.1016/j.beha.2014.11.004</pmc-comment>
<permissions><copyright-statement>© 2014 Elsevier Ltd. All rights reserved.</copyright-statement><copyright-year>2014</copyright-year></permissions><abstract><p id="P2">Myelodysplastic syndromes (MDS) are clonal hematopoietic disorders characterized by cytopenias, ineffective hematopoiesis, myelodysplasia, and an increased risk of acute myeloid leukemia (AML). While sporadic MDS is primarily a disease of the elderly, MDS in children and young and middle-aged adults is frequently associated with underlying genetic predisposition syndromes. In addition to the classic hereditary bone marrow failure syndromes (BMFS) such as Fanconi Anemia and Dyskeratosis Congenita, in recent years there has been an increased awareness of non-syndromic familial MDS/AML predisposition syndromes such as those caused by mutations in <italic>GATA2</italic>, <italic>RUNX1</italic>, <italic>CEBPA</italic>, and <italic>SRP72</italic> genes. Here, we will discuss the importance of recognizing an underlying genetic predisposition syndrome a patient with MDS, will review clinical scenarios when genetic predisposition should be considered, and will provide a practical overview of the common BMFS and familial MDS/AML syndromes which may be encountered in adult patients with MDS.</p></abstract><kwd-group><kwd>Myelodysplastic syndromes</kwd><kwd>MDS</kwd><kwd>bone marrow failure syndromes</kwd><kwd>genetic predisposition</kwd><kwd>familial MDS</kwd><kwd>familial leukemia</kwd><kwd>Fanconi Anemia</kwd><kwd>Dyskeratosis Congenita</kwd><kwd><italic>GATA2</italic></kwd><kwd>MonoMac</kwd><kwd>Emberger Syndrome</kwd><kwd><italic>RUNX1</italic></kwd><kwd>FPD/AML</kwd><kwd><italic>CEBPA</italic></kwd><kwd><italic>SRP72</italic></kwd><kwd>Diamond-Blackfan Anemia</kwd><kwd>Shwachman-Diamond Syndrome</kwd><kwd>Severe Congenital Neutropenia</kwd><kwd>Congenital Amegakaryocytic Thrombocytopenia</kwd></kwd-group></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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