TY - JOUR
T1 - A new TRPV4 mutation in a case of multiple central giant cell granulomas of the jaws
AU - Guimarães, Letícia Martins
AU - Martins-Chaves, Roberta Rayra
AU - Chabot, Priscila Quintino
AU - Schreuder, Willem H.
AU - de Castro, Wagner Henriques
AU - Gomez, Ricardo Santiago
AU - Gomes, Carolina Cavaliéri
N1 - Funding Information: The authors thank the Image Acquisition and Processing Center (CAPI- ICB/UFMG) for the slide scanning service. None. The following Brazilian agencies provided funding for this study: Coordination for the Improvement of Higher-Level Education Personnel (CAPES), Finance code 001, Fundação de Amparo à Pesquisa do Estado de Minas Gerais (FAPEMIG), and The National Council of Scientific and Technological Development (CNPq). Dr. Letícia Martins Guimarães and Dr. Roberta Rayra Martins-Chaves receive CAPES scholarships. Dr. Carolina Cavaliéri Gomes and Dr. Ricardo Santiago Gomez are research fellows at CNPq. Funding Information: The following Brazilian agencies provided funding for this study: Coordination for the Improvement of Higher-Level Education Personnel (CAPES), Finance code 001, Fundação de Amparo à Pesquisa do Estado de Minas Gerais (FAPEMIG), and The National Council of Scientific and Technological Development (CNPq). Dr. Letícia Martins Guimarães and Dr. Roberta Rayra Martins-Chaves receive CAPES scholarships. Dr. Carolina Cavaliéri Gomes and Dr. Ricardo Santiago Gomez are research fellows at CNPq. Publisher Copyright: © 2022 Elsevier Inc.
PY - 2023/3
Y1 - 2023/3
N2 - 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 multiple GCGJ can be challenging. The present case reports a 14-year-old boy with multiple central GCGJ and no obvious syndromic trait. Sanger sequencing-based analysis revealed wild-type sequences for SH3BP2 (exon 9), KRAS (exons 2-4), and FGFR1 (exons 9 and 10) genes. A rare TRPV4 somatic mutation (p.Val708Met) was detected in the lesion on the right side of the mandible, whereas the other tumor and the normal oral mucosa revealed wild-type TRPV4 sequences. This report expands the spectrum of TRPV4 somatic mutations in central GCGJ.
AB - 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 multiple GCGJ can be challenging. The present case reports a 14-year-old boy with multiple central GCGJ and no obvious syndromic trait. Sanger sequencing-based analysis revealed wild-type sequences for SH3BP2 (exon 9), KRAS (exons 2-4), and FGFR1 (exons 9 and 10) genes. A rare TRPV4 somatic mutation (p.Val708Met) was detected in the lesion on the right side of the mandible, whereas the other tumor and the normal oral mucosa revealed wild-type TRPV4 sequences. This report expands the spectrum of TRPV4 somatic mutations in central GCGJ.
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U2 - https://doi.org/10.1016/j.oooo.2022.10.005
DO - https://doi.org/10.1016/j.oooo.2022.10.005
M3 - Article
C2 - 36529675
SN - 2212-4403
VL - 135
SP - e68-e73
JO - Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
JF - Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
IS - 3
ER -
