Novel Mutation in APC Gene Associated with Multiple Osteomas in a Family and Review of Genotype-Phenotype Correlations of Extracolonic Manifestations in Gardner Syndrome

Gardner syndrome is a neoplasic disease that associates intestinal polyposis and colorectal adenocarcinoma with osteomas and soft tissue tumors determined by germline mutations in the APC gene. The early diagnosis and identification of high-risk individuals are important because patients have a 100%...

Full description

Saved in:
Bibliographic Details
Published in:Diagnostics (Basel) 2021-09, Vol.11 (9), p.1560
Main Authors: Antohi, Cristina, Haba, Danisia, Caba, Lavinia, Ciofu, Mihai Liviu, Drug, Vasile-Liviu, Bărboi, Oana-Bogdana, Dobrovăț, Bogdan Ionuț, Pânzaru, Monica-Cristina, Gorduza, Nicoleta Carmen, Lupu, Vasile Valeriu, Dimofte, Doina, Gug, Cristina, Gorduza, Eusebiu Vlad
Format: Article
Language:English
Subjects:
Bones
Case Report
Cell adhesion & migration
Colorectal cancer
Endoscopy
familial adenomatous polyposis
Family medical history
genomic variant
hereditary
Jaw
Mutation
Orthodontics
osteomas
Patients
Polyps
Proteins
Surgeons
Teeth
Tumors
X-rays
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Gardner syndrome is a neoplasic disease that associates intestinal polyposis and colorectal adenocarcinoma with osteomas and soft tissue tumors determined by germline mutations in the APC gene. The early diagnosis and identification of high-risk individuals are important because patients have a 100% risk of colon cancer. We present the case of a family with Gardner syndrome. Cephalometric, panoramic X-rays and CBCT of the proband and her brother showed multiple osteomas affecting the skull bones, mandible and paranasal sinuses. The detailed family history showed an autosomal dominant transmission with the presence of the disease in the mother and maternal grandfather of the proband. Both had the typical signs of disease and died in the fourth decade of life. Based on these aspects the clinical diagnosis was Gardner syndrome. By gene sequencing, a novel pathogenic variant c.4609dup (p.Thr1537Asnfs*7) in heterozygous status was identified in the APC gene in both siblings. We reviewed literature data concerning the correlation between the localization of mutations in the APC gene and the extracolonic manifestations of familial adenomatous polyposis as well as their importance in early diagnosis and adequate oncological survey of patients and families based on abnormal genomic variants.
ISSN:2075-4418
2075-4418
DOI:10.3390/diagnostics11091560