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 germ-line mutations: telomere biology disorders due to mutation of TERC or TERT, familial acute myeloid leukemia (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.
journal_name
Ann N Y Acad Scijournal_title
Annals of the New York Academy of Sciencesauthors
West AH,Godley LA,Churpek JEdoi
10.1111/nyas.12346subject
Has Abstractpub_date
2014-03-01 00:00:00pages
111-8eissn
0077-8923issn
1749-6632journal_volume
1310pub_type
杂志文章,评审abstract::An inactive form of erythrocyte CA I was found in patients with primary aldosteronism. The levels of CA I in the patients were within the normal range: however, the specific esterase activity of CA I from three patients was in the range of 0.12-0.26 u/mg CA I (normal control: 0.66 +/- 0.1 u/mg CA I). In one subject, w...
journal_title:Annals of the New York Academy of Sciences
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journal_title:Annals of the New York Academy of Sciences
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journal_title:Annals of the New York Academy of Sciences
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