Nature Communications (Nov 2018)
TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw
- Carolina Cavalieri Gomes,
- Tenzin Gayden,
- Andrea Bajic,
- Osama F. Harraz,
- Jonathan Pratt,
- Hamid Nikbakht,
- Eric Bareke,
- Marina Gonçalves Diniz,
- Wagner Henriques Castro,
- Pascal St-Onge,
- Daniel Sinnett,
- HyeRim Han,
- Barbara Rivera,
- Leonie G. Mikael,
- Nicolas De Jay,
- Claudia L. Kleinman,
- Elvis Terci Valera,
- Angelia V. Bassenden,
- Albert M. Berghuis,
- Jacek Majewski,
- Mark T. Nelson,
- Ricardo Santiago Gomez,
- Nada Jabado
Affiliations
- Carolina Cavalieri Gomes
- Department of Human Genetics, McGill University
- Tenzin Gayden
- Department of Human Genetics, McGill University
- Andrea Bajic
- Department of Human Genetics, McGill University
- Osama F. Harraz
- Department of Pharmacology, Larner College of Medicine, University of Vermont
- Jonathan Pratt
- Department of Human Genetics, McGill University
- Hamid Nikbakht
- Department of Human Genetics, McGill University
- Eric Bareke
- Department of Human Genetics, McGill University
- Marina Gonçalves Diniz
- Department of Oral Surgery and Pathology, Faculty of Dentistry, Universidade Federal de Minas Gerais
- Wagner Henriques Castro
- Department of Oral Surgery and Pathology, Faculty of Dentistry, Universidade Federal de Minas Gerais
- Pascal St-Onge
- CHU Sainte-Justine Research Center, Université de Montréal
- Daniel Sinnett
- CHU Sainte-Justine Research Center, Université de Montréal
- HyeRim Han
- Lady Davis Research Institute, Jewish General Hospital
- Barbara Rivera
- Lady Davis Research Institute, Jewish General Hospital
- Leonie G. Mikael
- Department of Pediatrics, McGill University and McGill University Heath Centre Research Institute
- Nicolas De Jay
- Department of Human Genetics, McGill University
- Claudia L. Kleinman
- Department of Human Genetics, McGill University
- Elvis Terci Valera
- Department of Human Genetics, McGill University
- Angelia V. Bassenden
- Department of Biochemistry, McGill University
- Albert M. Berghuis
- Jacek Majewski
- Department of Human Genetics, McGill University
- Mark T. Nelson
- Department of Pharmacology, Larner College of Medicine, University of Vermont
- Ricardo Santiago Gomez
- Department of Human Genetics, McGill University
- Nada Jabado
- Department of Human Genetics, McGill University
- DOI
- https://doi.org/10.1038/s41467-018-06690-4
- Journal volume & issue
-
Vol. 9,
no. 1
pp. 1 – 8
Abstract
Giant cell lesions of the jaw (GCLJ) are debilitating benign tumors of unclear origin. The authors identify driver recurrent somatic mutations in TRPV4, KRAS and FGFR1 and show they converge on aberrant activation of the MAPK pathway. Their findings extend the spectrum of TRPV4 channelopathies and provide rationale for targeted therapies at the bedside in GCLJ.
