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Dento-osseous anomalies in patients with familial adenomatous polyposis: A follow-up study.
Almeida, Fabiana Tolentino; Leite, André Ferreira; de Souza Figueiredo, Paulo Tadeu; Dos Santos, Pollyanna Almeida Costa; Rosa, Erica Carine Campos Caldas; Mazzeu, Juliana Forte; Sousa, João Batista; Pogue, Robert; Acevedo, Ana Carolina; Guerra, Eliete Neves Silva.
Afiliação
  • Almeida FT; Laboratory of Oral Histopathology, Health Sciences Faculty and Oral Care Center for Inherited Diseases, University of Brasilia, Brasilia, 70910-900, Brazil.
  • Leite AF; School of Dentistry, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, Canada.
  • de Souza Figueiredo PT; Laboratory of Oral Histopathology, Health Sciences Faculty and Oral Care Center for Inherited Diseases, University of Brasilia, Brasilia, 70910-900, Brazil.
  • Dos Santos PAC; Laboratory of Oral Histopathology, Health Sciences Faculty and Oral Care Center for Inherited Diseases, University of Brasilia, Brasilia, 70910-900, Brazil.
  • Rosa ECCC; Laboratory of Oral Histopathology, Health Sciences Faculty and Oral Care Center for Inherited Diseases, University of Brasilia, Brasilia, 70910-900, Brazil.
  • Mazzeu JF; University of Health Sciences of Alagoas, Maceio, Alagoas, Brazil.
  • Sousa JB; Laboratory of Clinical Genetics, Faculty of Medicine, University of Brasilia, Brasilia, Brazil.
  • Pogue R; Laboratory of Clinical Genetics, Faculty of Medicine, University of Brasilia, Brasilia, Brazil.
  • Acevedo AC; Proctology Division of the University Hospital of Brasília, Faculty of Medicine, University of Brasilia, Brasilia, Brazil.
  • Guerra ENS; Genomic Sciences and Biotechnology Program, Catholic University of Brasilia, Brasilia, Brazil.
Clin Oral Investig ; 24(10): 3501-3511, 2020 Oct.
Article em En | MEDLINE | ID: mdl-32025882
OBJECTIVE: The aim of this longitudinal study was to characterize the dento-osseous phenotype of eleven familial adenomatous polyposis (FAP) patients and twenty-two family members from four Brazilian families who were followed over nine years and to investigate adenomatous polyposis coli (APC) gene variants using a targeted next-generation sequencing approach. MATERIALS AND METHODS: Medical and dental history, oral examination, and panoramic radiography were performed to diagnose and follow up the dento-osseous anomalies. The anomalies were evaluated following the validated diagnostic tool dental panoramic radiographic score (DPRS), a system developed for high-risk FAP patients. Patients diagnosed with dento-osseous anomalies underwent cone-beam computed tomography. For genetic analysis, DNA was isolated from patients' saliva. RESULTS: Dento-osseous anomalies were identified in ten of the eleven FAP patients by panoramic radiograph evaluation. DPRS ≥ 7 (significant changes) was found in 81.8% (9/11) of FAP patients. The follow-up showed an increase in osseous jaw lesions in two young patients during adolescence. Dento-osseous anomalies were not found in non-FAP patients. A novel heterozygous nonsense pathogenic variant in APC exon 5 (c.481C > T; p.Gln161*) was identified in family 2, and a heterozygous splice-site pathogenic variant was identified in family 1 (c.532-1G > A). CONCLUSION: Our study expands the mutation spectrum of the APC gene and provides evidence that dento-osseous screening by imaging is a putative tool for early diagnosis of FAP. Also, the detection of dento-osseous anomalies in young patients with increasing osseous lesions during adolescence highlights the need for dental follow-up of high-risk FAP children. CLINICAL RELEVANCE: Dental radiographs are important for the screening and the follow-up of dento-osseous anomalies associated with FAP. It can also contribute to the early diagnosis of the disease.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Polipose Adenomatosa do Colo Tipo de estudo: Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limite: Humans País/Região como assunto: America do sul / Brasil Idioma: En Revista: Clin Oral Investig Assunto da revista: ODONTOLOGIA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Brasil País de publicação: Alemanha
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Polipose Adenomatosa do Colo Tipo de estudo: Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limite: Humans País/Região como assunto: America do sul / Brasil Idioma: En Revista: Clin Oral Investig Assunto da revista: ODONTOLOGIA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Brasil País de publicação: Alemanha