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

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

doi:10.1016/j.oooo.2022.10.005

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

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

^*Corresponding author for this work

Research output: Contribution to Journal › Article › Academic › peer-review

Abstract

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.

Original language	English
Pages (from-to)	e68-e73
Number of pages	6
Journal	Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
Volume	135
Issue number	3
Early online date	21 Oct 2022
DOIs	https://doi.org/10.1016/j.oooo.2022.10.005
Publication status	Published - Mar 2023

Bibliographical note

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.

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

Access to Document

10.1016/j.oooo.2022.10.005

Persistent URL (handle)

Copy link address

Cite this

@article{cec082f094d148e8bac7e793a43429ea,

title = "A new TRPV4 mutation in a case of multiple central giant cell granulomas of the jaws",

abstract = "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.",

author = "Guimar{\~a}es, {Let{\'i}cia Martins} and Martins-Chaves, {Roberta Rayra} and Chabot, {Priscila Quintino} and Schreuder, {Willem H.} and {de Castro}, {Wagner Henriques} and Gomez, {Ricardo Santiago} and Gomes, {Carolina Cavali{\'e}ri}",

note = "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, Funda{\c c}{\~a}o de Amparo {\`a} Pesquisa do Estado de Minas Gerais (FAPEMIG), and The National Council of Scientific and Technological Development (CNPq). Dr. Let{\'i}cia Martins Guimar{\~a}es and Dr. Roberta Rayra Martins-Chaves receive CAPES scholarships. Dr. Carolina Cavali{\'e}ri 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, Funda{\c c}{\~a}o de Amparo {\`a} Pesquisa do Estado de Minas Gerais (FAPEMIG), and The National Council of Scientific and Technological Development (CNPq). Dr. Let{\'i}cia Martins Guimar{\~a}es and Dr. Roberta Rayra Martins-Chaves receive CAPES scholarships. Dr. Carolina Cavali{\'e}ri Gomes and Dr. Ricardo Santiago Gomez are research fellows at CNPq. Publisher Copyright: {\textcopyright} 2022 Elsevier Inc.",

year = "2023",

month = mar,

doi = "10.1016/j.oooo.2022.10.005",

language = "English",

volume = "135",

pages = "e68--e73",

journal = "Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology",

issn = "2212-4403",

publisher = "Elsevier USA",

number = "3",

}

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.

UR - http://www.scopus.com/inward/record.url?scp=85144476089&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85144476089&partnerID=8YFLogxK

U2 - 10.1016/j.oooo.2022.10.005

DO - 10.1016/j.oooo.2022.10.005

M3 - Article

AN - SCOPUS:85144476089

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 -

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

Abstract

Bibliographical note

UN SDGs

Access to Document

Persistent URL (handle)

Other files and links

Fingerprint

Cite this