LymphedemaV1, Main, Exploration, bibRecord, 002A89

Familial myelodysplastic syndrome/acute leukemia syndromes: a review and utility for translational investigations

Identifieur interne : 002A89 ( Main/Exploration ); précédent : 002A88; suivant : 002A90

Familial 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.

RBID : PMC:3961519

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 TERC or TERT, familial AML with mutated CEBPA, familial MDS/AML with mutated GATA2, 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.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3961519

DOI: 10.1111/nyas.12346
PubMed: 24467820
PubMed Central: 3961519

Affiliations:

Le 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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Familial myelodysplastic syndrome/acute leukemia syndromes: a review and utility for translational investigations

Familial myelodysplastic syndrome/acute leukemia syndromes: a review and utility for translational investigations

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