NOTCH2 and FLT3 gene mis-splicings are common events in patients with acute myeloid leukemia (AML): new potential targets in AML

Author:

Adamia Sophia1,Bar-Natan Michal2,Haibe-Kains Benjamin3,Pilarski Patrick M.4,Bach Christian2,Pevzner Samuel5,Calimeri Teresa16,Avet-Loiseau Herve7,Lode Laurence8,Verselis Sigitas9,Fox Edward A.9,Galinsky Ilene10,Mathews Steven10,Dagogo-Jack Ibiayi11,Wadleigh Martha110,Steensma David P.110,Motyckova Gabriela110,Deangelo Daniel J.110,Quackenbush John12,Tenen Daniel G.2,Stone Richard M.110,Griffin James D.1

Affiliation:

1. Medical Oncology, Dana-Farber Cancer Institute, and

2. Department of Medicine, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA;

3. Bioinformatics and Computational Genomics Laboratory, Institut de Recherches Cliniques de Montréal, Montreal, QC, Canada;

4. Department of Computing Science, University of Alberta, Edmonton, AB, Canada;

5. Dana-Farber Cancer Institute, Center for Cancer Systems Biology and Department of Genetics, Boston University School of Medicine, Boston University, Boston, MA;

6. Medical Oncology, University of Magna Græcia and Tommaso Campanella Cancer Center, Catanzaro, Italy;

7. Unité de Génomique du Myélome, Laboratoire Unité de Génomique du Myélome, University Hospital, Centre Hospitalier Universitaire Rangueil, Toulouse, France;

8. Hematology Laboratory, University Hospital, and INSERM U892, Nantes, France;

9. Molecular Diagnostics Laboratory, and

10. Adult Leukemia Program, Dana-Farber Cancer Institute, Boston, MA;

11. Brigham and Women's Hospital, Boston, MA; and

12. Biostatistics and Computational Biology, Dana-Farber Cancer Institute, Boston, MA

Abstract

Key Points Overall, our results suggest that NOTCH2 and FLT3 aberrant splicing is a common event in AML that correlates with disease status and may correlate with disease outcomes. Selected variants of NOTCH2 and FLT3 transcripts were detected in a significant number of AML patients and could be useful as disease markers.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

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