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A new TRPV4 mutation in a case of multiple central giant cell granulomas of the jaws.

Oral surgery, oral medicine, oral pathology and oral radiology - 1 Mar 2023

Guimarães Letícia Martins, Martins-Chaves Roberta Rayra, Chabot Priscila Quintino, Schreuder Willem H, de Castro Wagner Henriques, Gomez Ricardo Santiago, Gomes Carolina Cavaliéri

Abstract excerpt

Sporadic central giant cell granulomas of the jaws (GCGJ) are often solitary lesions, characterized by KRAS, FGFR1, and TRPV4 somatic mutations. Multifocal lesions may occur and are associated with hyperparathyroidism or underlying syndromes such as cherubism, which is marked by SH3BP2 mutations, and RASopathies, which are caused by mutations in the FGFR-RAS-RAF-MEK-ERK signaling cascade. The diagnosis of...

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PMID: 36529675
DOI: 10.1016/j.oooo.2022.10.005

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