Mutually exclusive recurrent somatic mutations in MAP2K1 and BRAF support a central role for ERK activation in LCH pathogenesis

Author:

Chakraborty Rikhia1,Hampton Oliver A.23,Shen Xiaoyun1,Simko Stephen J.14,Shih Albert1,Abhyankar Harshal1,Lim Karen Phaik Har15,Covington Kyle R.23,Trevino Lisa23,Dewal Ninad23,Muzny Donna M.3,Doddapaneni Harshavardhan3,Hu Jianhong3,Wang Linghua23,Lupo Philip J.14,Hicks M. John146,Bonilla Diana L.7,Dwyer Karen C.7,Berres Marie-Luise8910,Poulikakos Poulikos I.8911,Merad Miriam8910,McClain Kenneth L.14,Wheeler David A.23,Allen Carl E.145,Parsons D. Williams12345

Affiliation:

1. Texas Children’s Cancer Center, Texas Children’s Hospital, Houston, TX;

2. Department of Molecular and Human Genetics,

3. Human Genome Sequencing Center,

4. Division of Pediatric Hematology-Oncology, Department of Pediatrics,

5. Program in Translational Biology and Molecular Medicine, and

6. Department of Pathology and Immunology, Baylor College of Medicine, Houston, TX;

7. Stem Cell Transplantation and Cellular Therapy, University of Texas MD Anderson Cancer Center, Houston, TX; and

8. Department of Oncological Sciences,

9. Tisch Cancer Institute,

10. Immunology Institute, and

11. Department of Dermatology, Icahn School of Medicine, New York, NY

Abstract

Key Points Recurrent somatic mutations in MAP2K1 were identified in 33% of LCH lesions with wild-type BRAF. The mutant MAPK kinase 1 proteins activate ERK. The ability of MAPK pathway inhibitors to suppress MAPK kinase and ERK phosphorylation in vitro was dependent on the specific LCH mutation.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

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