Dento-osseous anomalies in patients with familial adenomatous polyposis: A follow-up study
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ORIGINAL ARTICLE
Dento-osseous anomalies in patients with familial adenomatous polyposis: A follow-up study Fabiana Tolentino Almeida 1,2 & André Ferreira Leite 1 & Paulo Tadeu de Souza Figueiredo 1 & Pollyanna Almeida Costa dos Santos 1,3 & Erica Carine Campos Caldas Rosa 4 & Juliana Forte Mazzeu 4 & João Batista Sousa 5 & Robert Pogue 6 & Ana Carolina Acevedo 1 & Eliete Neves Silva Guerra 1 Received: 25 October 2019 / Accepted: 22 January 2020 # Springer-Verlag GmbH Germany, part of Springer Nature 2020
Abstract 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. Electronic supplementary material The online version of this article (https://doi.org/10.1007/s00784-020-03220-9) contains supplementary material, which is available to authorized users. * Eliete Neves Silva Guerra [email protected]
Robert Pogue [email protected]
Fabiana Tolentino Almeida [email protected] André Ferreira Leite [email protected]
Ana Carolina Acevedo [email protected] 1
Paulo Tadeu de Souza Figueiredo [email protected]
Laboratory of Oral Histopathology, Health Sciences Faculty and Oral Care Center for Inherited Diseases, University of Brasilia, Brasilia 70910-900, Brazil
2
Pollyanna Almeida Costa dos Santos [email protected]
School of Dentistry, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, Canada
3
University of Health Scien
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