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.
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).
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.
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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We are grateful to the patients who agreed to participate in this study. The authors also thank Dr. Paulo Yamaguti for contributing to the genetic analysis.
Conflict of interest
The authors declare no conflicts of interest.
The study was developed in compliance with the Declaration of Helsinki and was approved by the Ethics Committee of the Health Sciences Faculty, University of Brasília – CEP/FS under number 493.502.
Informed consent was obtained from all the patients included in the study.
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Almeida, F.T., Leite, A.F., de Souza Figueiredo, P.T. et al. Dento-osseous anomalies in patients with familial adenomatous polyposis: A follow-up study. Clin Oral Invest (2020). https://doi.org/10.1007/s00784-020-03220-9
- Familial adenomatous polyposis
- Adenomatous polyposis coli gene
- Dento-osseous anomalies
- Molecular genetics