ETV6-related thrombocytopenia and leukemia predisposition-Reference-Cited by-同舟云学术

ETV6-related thrombocytopenia and leukemia predisposition

Published:2019-08-22 Issue:8 Volume:134 Page:663-667
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Di Paola Jorge¹,Porter Christopher C.²

Affiliation:

1. Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO; and

2. Department of Pediatrics, Emory University School of Medicine, Atlanta, GA

Abstract

Abstract Germ line mutations in ETV6 are responsible for a familial thrombocytopenia and leukemia predisposition syndrome. Thrombocytopenia is almost completely penetrant and is usually mild. Leukemia is reported in ∼30% of carriers and is most often B-cell acute lymphoblastic leukemia. The mechanisms by which ETV6 dysfunction promotes thrombocytopenia and leukemia remain unclear. Care for individuals with ETV6-related thrombocytopenia and leukemia predisposition includes genetic counseling, treatment or prevention of excessive bleeding and surveillance for the development of hematologic malignancy.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/134/8/663/1554202/bloodbld2019852418c.pdf

Reference51 articles.

1. The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia;Arber;Blood,2016

2. Germ line mutations associated with leukemias;Porter;Hematology Am Soc Hematol Educ Program,2016

3. Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy;Zhang;Nat Genet,2015

4. Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia;Noetzli;Nat Genet,2015

5. Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34+ progenitors;Poggi;Haematologica,2017

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