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

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, marked by SH3BP2 mutations, and RASopathies, which are caused by mutations in the FGFR-RAS-RAF-MEK-ERK signaling cascade. The diagnosis of multiple GCGJ can be challenging. The present case reports a fourteen-year-old boy with multiple central GCGJ and no obvious syndromic trait.

Source: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics - October 20, 2022 Category: ENT & OMF Authors: Let ícia Martins Guimarães, Roberta Rayra Martins-Chaves, Priscila Quintino Chabot, Willem H. Schreuder, Wagner Henriques de Castro, Ricardo Santiago Gomez, Carolina Cavaliéri Gomes Tags: Case Report Source Type: research