JAK2 ex13InDel drives oncogenic transformation and is associated with chronic eosinophilic leukemia and polycythemia vera-Reference-Cited by-同舟云学术

JAK2 ex13InDel drives oncogenic transformation and is associated with chronic eosinophilic leukemia and polycythemia vera

Published:2019-12-26 Issue:26 Volume:134 Page:2388-2398
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Patel Ami B.¹²,Franzini Anca²^ORCID,Leroy Emilie³⁴,Kim Soo Jin²,Pomicter Anthony D.²,Genet Lidvine³⁴,Xiao Michael⁵^ORCID,Yan Dongqing²,Ahmann Jonathan M.²,Agarwal Archana M.⁶,Clair Phillip¹,Addada Juanah⁷,Lambert Jonathan⁸,Salmon Matthew⁹¹⁰,Gleich Gerald J.¹¹¹²,Cross Nicholas C. P.⁹¹⁰,Constantinescu Stefan N.³⁴,O’Hare Thomas¹²,Prchal Josef T.¹¹³^ORCID,Deininger Michael W.¹²

Affiliation:

1. Division of Hematology and Hematologic Malignancies, The University of Utah, Salt Lake City, UT;

2. Huntsman Cancer Institute, The University of Utah, Salt Lake City, UT;

3. Ludwig Cancer Research Brussels and de Duve Institute, Université Catholique de Louvain, Brussels, Belgium;

4. WELBIO (Walloon Excellence in Life Sciences and Biotechnology), Brussels, Belgium;

5. Department of Biochemistry, The University of Utah School of Medicine, Salt Lake City, UT;

6. Division of Clinical Pathology, Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT;

7. Department of Haematology, Royal Derby Hospital, Derby, United Kingdom;

8. Department of Clinical Haematology, University College London Hospitals, London, United Kingdom;

9. Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury, United Kingdom;

10. Faculty of Medicine, University of Southampton, Southampton, United Kingdom;

11. Department of Dermatology and

12. Department of Medicine, The University of Utah, Salt Lake City, UT; and

13. Veteran Administration Medical Center, Salt Lake City, UT

Abstract

The authors describe recurrent novel insertion/deletion mutations in the JH2 domain of JAK2 occurring in patients with eosinophilia as a prominent feature of their myeloproliferative neoplasms. Remarkably, 2 of the patients with a specific mutation (Leu583-Ala586DelInsSer) meet the criteria for both chronic eosinophilic leukemia and polycythemia vera, suggesting that this may be a distinct overlap syndrome.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/134/26/2388/1549680/bloodbld2019001385.pdf

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