Novel Mutation in <i>APC</i> Gene Associated with Multiple Osteomas in a Family and Review of Genotype-Phenotype Correlations of Extracolonic Manifestations in Gardner Syndrome
Cristina Antohi,
Danisia Haba,
Lavinia Caba,
Mihai Liviu Ciofu,
Vasile-Liviu Drug,
Oana-Bogdana Bărboi,
Bogdan Ionuț Dobrovăț,
Monica-Cristina Pânzaru,
Nicoleta Carmen Gorduza,
Vasile Valeriu Lupu,
Doina Dimofte,
Cristina Gug,
Eusebiu Vlad Gorduza
Affiliations
Cristina Antohi
Odontology-Periodontology-Fixed Prosthetics Department, “Grigore T. Popa” University of Medicine and Pharmacy, 16 University Street, 700115 Iasi, Romania
Danisia Haba
Oral and Maxillofacial Surgery Department, “Grigore T. Popa” University of Medicine and Pharmacy, 16 University Street, 700115 Iaşi, Romania
Lavinia Caba
Medicine of Mother and Child Department, “Grigore T. Popa” University of Medicine and Pharmacy, 16 University Street, 700115 Iasi, Romania
Mihai Liviu Ciofu
Oral and Maxillofacial Surgery Department, “Grigore T. Popa” University of Medicine and Pharmacy, 16 University Street, 700115 Iaşi, Romania
Vasile-Liviu Drug
Medical I Department, “Grigore T. Popa” University of Medicine and Pharmacy, 16 University Street, 700115 Iasi, Romania
Oana-Bogdana Bărboi
Medical I Department, “Grigore T. Popa” University of Medicine and Pharmacy, 16 University Street, 700115 Iasi, Romania
Bogdan Ionuț Dobrovăț
Oral and Maxillofacial Surgery Department, “Grigore T. Popa” University of Medicine and Pharmacy, 16 University Street, 700115 Iaşi, Romania
Monica-Cristina Pânzaru
Medicine of Mother and Child Department, “Grigore T. Popa” University of Medicine and Pharmacy, 16 University Street, 700115 Iasi, Romania
Nicoleta Carmen Gorduza
Endocrinology Department, “St. Spiridon” Hospital, 700111 Iasi, Romania
Vasile Valeriu Lupu
Medicine of Mother and Child Department, “Grigore T. Popa” University of Medicine and Pharmacy, 16 University Street, 700115 Iasi, Romania
Doina Dimofte
Medoptica, 700194 Iasi, Romania
Cristina Gug
Microscopic Morphology Department, “Victor Babes” University of Medicine and Pharmacy, 300041 Timișoara, Romania
Eusebiu Vlad Gorduza
Medicine of Mother and Child Department, “Grigore T. Popa” University of Medicine and Pharmacy, 16 University Street, 700115 Iasi, Romania
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.
