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Recognizing familial myeloid leukemia in adults

Identifieur interne : 003228 ( Main/Exploration ); précédent : 003227; suivant : 003229

Recognizing familial myeloid leukemia in adults

Auteurs : Eric M. Nickels ; Jesse Soodalter ; Jane E. Churpek ; Lucy A. Godley

Source :

Therapeutic Advances in Hematology [ 2040-6207 ] ; 2013.

RBID : PMC:3734901

Abstract

Germline testing for familial cases of myeloid leukemia in adults is becoming more common with the recognition of multiple genetic syndromes predisposing people to bone marrow disease. Currently, Clinical Laboratory Improvement Amendments approved testing exists for several myeloid leukemia predisposition syndromes: familial platelet disorder with propensity to acute myeloid leukemia (FPD/AML), caused by mutations in RUNX1; familial AML with mutated CEBPA; familial myelodysplastic syndrome and acute leukemia with mutated GATA2; and the inherited bone marrow failure syndromes, including dyskeratosis congenita, a disease of abnormal telomere maintenance. With the recognition of additional families with a genetic component to their leukemia, new predisposition alleles will likely be identified. We highlight how to recognize and manage these cases as well as outline the characteristics of the major known syndromes. We look forward to future research increasing our understanding of the scope of inherited myeloid leukemia syndromes.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3734901

DOI: 10.1177/2040620713487399
PubMed: 23926458
PubMed Central: 3734901

Affiliations:

Le document en format XML

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<author><name sortKey="Nickels, Eric M" sort="Nickels, Eric M" uniqKey="Nickels E" first="Eric M." last="Nickels">Eric M. Nickels</name>
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<author><name sortKey="Soodalter, Jesse" sort="Soodalter, Jesse" uniqKey="Soodalter J" first="Jesse" last="Soodalter">Jesse Soodalter</name>
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<author><name sortKey="Churpek, Jane E" sort="Churpek, Jane E" uniqKey="Churpek J" first="Jane E." last="Churpek">Jane E. Churpek</name>
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<author><name sortKey="Godley, Lucy A" sort="Godley, Lucy A" uniqKey="Godley L" first="Lucy A." last="Godley">Lucy A. Godley</name>
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<front><div type="abstract" xml:lang="en"><p>Germline testing for familial cases of myeloid leukemia in adults is becoming more common with the recognition of multiple genetic syndromes predisposing people to bone marrow disease. Currently, Clinical Laboratory Improvement Amendments approved testing exists for several myeloid leukemia predisposition syndromes: familial platelet disorder with propensity to acute myeloid leukemia (FPD/AML), caused by mutations in <italic>RUNX1</italic>
; familial AML with mutated <italic>CEBPA</italic>
; familial myelodysplastic syndrome and acute leukemia with mutated <italic>GATA2</italic>
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<name sortKey="Soodalter, Jesse" sort="Soodalter, Jesse" uniqKey="Soodalter J" first="Jesse" last="Soodalter">Jesse Soodalter</name>
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Recognizing familial myeloid leukemia in adults

Recognizing familial myeloid leukemia in adults

Source :

Abstract

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Le document en format XML

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