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121 results on '"Gomes, Carolina C."'

5. No NFATC2 fusion in simple bone cyst of the jaw

Author

Ong, Sheena L M, primary, Gomes, Isadora P, additional, Baelde, Hans J, additional, Passador‐Santos, Fabricio, additional, de Andrade, Bruno A B, additional, Briaire‐de Bruijn, Inge H, additional, Cavalcante, Israel L, additional, Schreuder, Willem H, additional, Cleton‐Jansen, Anne‐Marie, additional, Cleven, Arjen H G, additional, Szuhai, Karoly, additional, Gomes, Carolina C, additional, and Bovée, Judith V M G, additional

Published
2023
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6. Plaque‐like cutaneous mucinosis in a patient with KRAS‐mutated giant cell granuloma of the jaw.

Author

Mattia, Alexzandra, Thompson, Anthony, Lee, Sena J., Richardson, Stephen, Guimarães, Letícia M., Gomes, Carolina C., Gomez, Ricardo S., and Schaffer, András

Subjects
GRANULOMA, PARANEOPLASTIC syndromes, JAWS, GIANT cell tumors, CASTLEMAN'S disease, BENIGN tumors, CANCER patients
Abstract

This article discusses a case of plaque-like cutaneous mucinosis (PCM) in a patient with KRAS-mutated giant cell granuloma of the jaw. PCM is a condition characterized by lichenoid papules, nodules, or plaques with glycosaminoglycan deposition in the dermis. The patient in this case had PCM overlying a benign bone-resorbing neoplasia of the jaw called central giant cell granuloma (CGCG). The PCM rapidly resolved following surgical resection of the tumor. The article also mentions other paraneoplastic dermatoses associated with oral neoplasia and provides information on the diagnosis and differential diagnosis of PCM. [Extracted from the article]

Published
2024
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8. De novo TRPV4 Leu619Pro variant causes a new channelopathy characterised by giant cell lesions of the jaws and skull, skeletal abnormalities and polyneuropathy

Author

Ragamin, Aviel, Gomes, Carolina C., Bindels-De Heus, Karen, Sandoval, Renata, Bassenden, Angelia V., Dib, Luciano, Kok, Fernando, Alves, Julieta, Mathijssen, Irene, Medici-Van Den Herik, Evita, Eveleigh, Robert, Gayden, Tenzin, Pullens, Bas, Berghuis, Albert, Van Slegtenhorst, Marjon, Wilke, Martina, Jabado, Nada, Mancini, Grazia Maria Simonetta, Gomez, Ricardo Santiago, Ragamin, Aviel, Gomes, Carolina C., Bindels-De Heus, Karen, Sandoval, Renata, Bassenden, Angelia V., Dib, Luciano, Kok, Fernando, Alves, Julieta, Mathijssen, Irene, Medici-Van Den Herik, Evita, Eveleigh, Robert, Gayden, Tenzin, Pullens, Bas, Berghuis, Albert, Van Slegtenhorst, Marjon, Wilke, Martina, Jabado, Nada, Mancini, Grazia Maria Simonetta, and Gomez, Ricardo Santiago

Abstract

Background Pathogenic germline variants in Transient Receptor Potential Vanilloid 4 Cation Channel (TRPV4) lead to channelopathies, which are phenotypically diverse and heterogeneous disorders grossly divided in neuromuscular disorders and skeletal dysplasia. We recently reported in sporadic giant cell lesions of the jaws (GCLJs) novel, somatic, heterozygous, gain-of-function mutations in TRPV4, at Met713. Methods Here we report two unrelated women with a de novo germline p.Leu619Pro TRPV4 variant and an overlapping systemic disorder affecting all organs individually described in TRPV4 channelopathies. Results From an early age, both patients had several lesions of the nervous system including progressive polyneuropathy, and multiple aggressive giant cell-rich lesions of the jaws and craniofacial/skull bones, and other skeletal lesions. One patient had a relatively milder disease phenotype possibly due to postzygotic somatic mosaicism. Indeed, the TRPV4 p.Leu619Pro variant was present at a lower frequency (variant allele frequency (VAF)=21.6%) than expected for a heterozygous variant as seen in the other proband, and showed variable regional frequency in the GCLJ (VAF ranging from 42% to 10%). In silico structural analysis suggests that the gain-of-function p.Leu619Pro alters the ion channel activity leading to constitutive ion leakage. Conclusion Our findings define a novel polysystemic syndrome due to germline TRPV4 p.Leu619Pro and further extend the spectrum of TRPV4 channelopathies. They further highlight the convergence of TRPV4 mutations on different organ systems leading to complex phenotypes which are further mitigated by possible post-zygotic mosaicism. Treatment of this disorder is challenging, and surgical intervention of the GCLJ worsens the lesions, suggesting the future use of MEK inhibitors and TRPV4 antagonists as therapeutic modalities for unmet clinical needs.

Published
2022

10. Familial STAG2 germline mutation defines a new human cohesinopathy

Author

Soardi, Fernanda C., Machado-Silva, Alice, Linhares, Natália D., Zheng, Ge, Qu, Qianhui, Pena, Heloísa B., Martins, Thaís M. M., Vieira, Helaine G. S., Pereira, Núbia B., Melo-Minardi, Raquel C., Gomes, Carolina C., Gomez, Ricardo S., Gomes, Dawidson A., Pires, Douglas E. V., Ascher, David B., Yu, Hongtao, and Pena, Sérgio D. J.

Published
2017
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15. De novo TRPV4 Leu619Pro variant causes a new channelopathy characterised by giant cell lesions of the jaws and skull, skeletal abnormalities and polyneuropathy

Author

Ragamin, Aviel, primary, Gomes, Carolina C, additional, Bindels-de Heus, Karen, additional, Sandoval, Renata, additional, Bassenden, Angelia V, additional, Dib, Luciano, additional, Kok, Fernando, additional, Alves, Julieta, additional, Mathijssen, Irene, additional, Medici-Van den Herik, Evita, additional, Eveleigh, Robert, additional, Gayden, Tenzin, additional, Pullens, Bas, additional, Berghuis, Albert, additional, van Slegtenhorst, Marjon, additional, Wilke, Martina, additional, Jabado, Nada, additional, Mancini, Grazia Maria Simonetta, additional, and Gomez, Ricardo Santiago, additional

Published
2021
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22. Abstract 4663:KRASmutations drive adenomatoid odontogenic tumor and are independent of clinicopathological features

Author

Gomes, Carolina C., primary, Coura, Bruna P., additional, Bernardes, Vanessa F., additional, Sousa, Silvia F. de, additional, França, Josiane A., additional, Pereira, Nubia B., additional, Pontes, Helder A., additional, Batista, Aline C., additional, Perez, Danyel E., additional, Albuquerque, Ricardo C., additional, Souza, Lelia B. de, additional, Martins, Manoela D., additional, Diniz, Marina G., additional, and Gomez, Ricardo S., additional

Published
2019
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23. Patient‐derived xenografts of a case of ameloblastic fibrodentinoma

Author

Pereira, Núbia B., primary, de Souza, Juliana C., additional, Bastos, Victor C., additional, Fonseca, Felipe P., additional, de Avelar, Gleide F., additional, Castro, Wagner H., additional, Dias, Adriana A. M., additional, Mosqueda‐Taylor, Adalberto, additional, Gomez, Ricardo S., additional, and Gomes, Carolina C., additional

Published
2019
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26. A potential new oral mapping (OM) method in the clinical evaluation and documentation of oral submucous fibrosis—A prospective clinical crossover study

Author

Arakeri, Gururaj, primary, Aljabab, Abdulsalam, additional, Maddur, Nagaraj, additional, Hunasgi, Santosh, additional, Patil, Shekar, additional, Hale, Beverley, additional, Merkx, Matthias A. W., additional, Gomes, Carolina C., additional, Gomez, Ricardo S., additional, and Brennan, Peter A., additional

Published
2019
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27. De novo TRPV4Leu619Pro variant causes a new channelopathy characterised by giant cell lesions of the jaws and skull, skeletal abnormalities and polyneuropathy

Author

Ragamin, Aviel, Gomes, Carolina C, Bindels-de Heus, Karen, Sandoval, Renata, Bassenden, Angelia V, Dib, Luciano, Kok, Fernando, Alves, Julieta, Mathijssen, Irene, Medici-Van den Herik, Evita, Eveleigh, Robert, Gayden, Tenzin, Pullens, Bas, Berghuis, Albert, van Slegtenhorst, Marjon, Wilke, Martina, Jabado, Nada, Mancini, Grazia Maria Simonetta, and Gomez, Ricardo Santiago

Abstract

BackgroundPathogenic germline variants in Transient Receptor Potential Vanilloid 4 Cation Channel (TRPV4) lead to channelopathies, which are phenotypically diverse and heterogeneous disorders grossly divided in neuromuscular disorders and skeletal dysplasia. We recently reported in sporadic giant cell lesions of the jaws (GCLJs) novel, somatic, heterozygous, gain-of-function mutations in TRPV4, at Met713.MethodsHere we report two unrelated women with a de novo germline p.Leu619Pro TRPV4variant and an overlapping systemic disorder affecting all organs individually described in TRPV4 channelopathies.ResultsFrom an early age, both patients had several lesions of the nervous system including progressive polyneuropathy, and multiple aggressive giant cell-rich lesions of the jaws and craniofacial/skull bones, and other skeletal lesions. One patient had a relatively milder disease phenotype possibly due to postzygotic somatic mosaicism. Indeed, the TRPV4p.Leu619Pro variant was present at a lower frequency (variant allele frequency (VAF)=21.6%) than expected for a heterozygous variant as seen in the other proband, and showed variable regional frequency in the GCLJ (VAF ranging from 42% to 10%). In silico structural analysis suggests that the gain-of-function p.Leu619Pro alters the ion channel activity leading to constitutive ion leakage.ConclusionOur findings define a novel polysystemic syndrome due to germline TRPV4p.Leu619Pro and further extend the spectrum of TRPV4channelopathies. They further highlight the convergence of TRPV4mutations on different organ systems leading to complex phenotypes which are further mitigated by possible post-zygotic mosaicism. Treatment of this disorder is challenging, and surgical intervention of the GCLJ worsens the lesions, suggesting the future use of MEK inhibitors and TRPV4 antagonists as therapeutic modalities for unmet clinical needs.

Published
2022
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28. Making sense of giant cell lesions of the jaws (GCLJ): lessons learned from next‐generation sequencing.

Author

Gomes, Carolina C, Diniz, Marina G, Bastos, Victor C, Bernardes, Vanessa F, and Gomez, Ricardo S

Subjects
NUCLEOTIDE sequencing, JAW tumors, JAWS, PATHOLOGY, GIANT cell tumors, GENETICS
Abstract

Next‐generation sequencing has revealed mutations in several bone‐related lesions and was recently used to uncover the genetic basis of giant cell lesions of the jaws (GCLJ). Consistent with their benign nature, GCLJ show a low tumor mutation burden. They also harbor somatic, heterozygous, mutually exclusive mutations in TRPV4, KRAS, or FGFR1. These signature mutations occur only in a subset of lesional cells, suggesting the existence of a 'landscaping effect', with mutant cells inducing abnormal accumulation of non‐mutant cells that form the tumor mass. Osteoclast‐rich lesions with histological similarities to GCLJ can occur in the jaws sporadically or in association with genetically inherited syndromes. Based on recent results, the pathogenesis of a subgroup of sporadic GCLJ seems closely related to non‐ossifying fibroma of long bones, with both lesions sharing MAPK pathway‐activating mutations. In this review, we extrapolate from these recent findings to contextualize GCLJ genetics and we highlight the therapeutic implications of this new information. © 2019 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd. [ABSTRACT FROM AUTHOR]

Published
2020
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32. Ameloblastic carcinoma: a Brazilian collaborative study of 17 cases

Author

Loyola, Adriano M, primary, Cardoso, Sergio V, additional, de Faria, Paulo R, additional, Servato, João P S, additional, Eisenberg, Ana L A, additional, Dias, Fernando L, additional, Accioly, Maria T S, additional, Gomes, Carolina C, additional, Gomez, Ricardo S, additional, Souza, Suzana O M C, additional, and dos Santos, Jean N, additional

Published
2016
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38. Defects of the Carney complex gene (PRKAR1A) in odontogenic tumors

Author

Sousa, Sílvia F, primary, Gomez, Ricardo S, additional, Diniz, Marina G, additional, Bernardes, Vanessa F, additional, Soares, Flávia F C, additional, Brito, João Artur R, additional, Liu, Sophie, additional, Pontes, Hélder Antônio R, additional, Stratakis, Constantine A, additional, and Gomes, Carolina C, additional

Published
2015
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