Familial myelodysplastic syndrome/acute leukemia syndromes: a review and utility for translational investigations
Identifieur interne : 003673 ( Pmc/Curation ); précédent : 003672; suivant : 003674Familial myelodysplastic syndrome/acute leukemia syndromes: a review and utility for translational investigations
Auteurs : Allison H. West [États-Unis] ; Lucy A. Godley [États-Unis] ; Jane E. Churpek [États-Unis]Source :
- Annals of the New York Academy of Sciences [ 0077-8923 ] ; 2014.
Abstract
The familial myelodysplastic (MDS)/acute leukemia (AL) predisposition syndromes are inherited disorders that lead to significantly increased lifetime risks of MDS and AL development. At present, four recognized syndromes have Clinical Laboratory Improvement Amendments–certified testing for their respective germline mutations: telomere biology disorders due to mutation of
Url:
DOI: 10.1111/nyas.12346
PubMed: 24467820
PubMed Central: 3961519
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PMC:3961519Le document en format XML
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<front><div type="abstract" xml:lang="en"><p id="P1">The familial myelodysplastic (MDS)/acute leukemia (AL) predisposition syndromes are inherited disorders that lead to significantly increased lifetime risks of MDS and AL development. At present, four recognized syndromes have Clinical Laboratory Improvement Amendments–certified testing for their respective germline mutations: telomere biology disorders due to mutation of <italic>TERC</italic>
or <italic>TERT</italic>
, familial AML with mutated <italic>CEBPA</italic>
, familial MDS/AML with mutated <italic>GATA2</italic>
, and familial platelet disorder with propensity to myeloid malignancy. These disorders are heterogeneous with regard to their causative genetic mutations, clinical presentation, and progression to MDS/AL. However, as a group, they all share the unique requirement for a high index of clinical suspicion to allow appropriate genetic counseling, genetic testing and mutation-specific clinical management. In addition, translational investigations of individuals and families with these syndromes provide a rare opportunity to understand key pathways underlying susceptibility and progression to MDS/AL and allow the possibility of novel strategies for the prevention and treatment of both familial and sporadic forms of MDS/AL.</p>
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Department of Medicine, The University of Chicago, Chicago, Illinois</aff>
<aff id="A2"><label>2</label>
Center for Clinical Cancer Genetics, The University of Chicago, Chicago, Illinois</aff>
<author-notes><corresp id="cor1">Address for correspondence: Jane E. Churpek, M.D., 5841 S. Maryland Ave. MC2115, Chicago, IL 60637. <email>jchurpek@bsd.uchicago.edu</email>
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<year>2015</year>
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<fpage>111</fpage>
<lpage>118</lpage>
<pmc-comment>elocation-id from pubmed: 10.1111/nyas.12346</pmc-comment>
<abstract><p id="P1">The familial myelodysplastic (MDS)/acute leukemia (AL) predisposition syndromes are inherited disorders that lead to significantly increased lifetime risks of MDS and AL development. At present, four recognized syndromes have Clinical Laboratory Improvement Amendments–certified testing for their respective germline mutations: telomere biology disorders due to mutation of <italic>TERC</italic>
or <italic>TERT</italic>
, familial AML with mutated <italic>CEBPA</italic>
, familial MDS/AML with mutated <italic>GATA2</italic>
, and familial platelet disorder with propensity to myeloid malignancy. These disorders are heterogeneous with regard to their causative genetic mutations, clinical presentation, and progression to MDS/AL. However, as a group, they all share the unique requirement for a high index of clinical suspicion to allow appropriate genetic counseling, genetic testing and mutation-specific clinical management. In addition, translational investigations of individuals and families with these syndromes provide a rare opportunity to understand key pathways underlying susceptibility and progression to MDS/AL and allow the possibility of novel strategies for the prevention and treatment of both familial and sporadic forms of MDS/AL.</p>
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