Predisposition to childhood acute lymphoblastic leukemia caused by a constitutional translocation disrupting ETV6-Reference-Cited by-同舟云学术

Predisposition to childhood acute lymphoblastic leukemia caused by a constitutional translocation disrupting ETV6

Published:2019-09-13 Issue:18 Volume:3 Page:2722-2731
ISSN:2473-9529
Container-title:Blood Advances
language:en
Short-container-title:

Author:

Järviaho Tekla¹²³^ORCID,Bang Benedicte⁴^ORCID,Zachariadis Vasilios⁴⁵^ORCID,Taylan Fulya⁴^ORCID,Moilanen Jukka¹²⁶^ORCID,Möttönen Merja¹⁷,Smith C. I. Edvard⁸^ORCID,Harila-Saari Arja⁹^ORCID,Niinimäki Riitta¹⁷^ORCID,Nordgren Ann⁴⁵^ORCID

Affiliation:

1. PEDEGO Research Unit, University of Oulu, Oulu, Finland;

2. Medical Research Center, University of Oulu and Oulu University Hospital, Oulu, Finland;

3. Biocenter Oulu, University of Oulu, Oulu, Finland;

4. Department of Molecular Medicine and Surgery, Center of Molecular Medicine, Karolinska Institutet, Stockholm, Sweden;

5. Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden;

6. Department of Clinical Genetics and

7. Department of Children and Adolescents, Oulu University Hospital, Oulu, Finland;

8. Clinical Research Center, Department of Laboratory Medicine, Karolinska Institutet, Huddinge, Sweden; and

9. Department of Women’s and Children’s Health, Uppsala University, Uppsala, Sweden

Abstract

Key PointsWe report the first known family with a constitutional translocation disrupting ETV6 predisposing to ALL. Germline monoallelic expression of ETV6 contributes to leukemia predisposition without thrombocytopenia.

Publisher

American Society of Hematology

Subject

Hematology

Link

http://ashpublications.org/bloodadvances/article-pdf/3/18/2722/1223285/advances028795.pdf

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