GARDNER’S SYNDROME AS THE FIRST MANIFESTATION OF FAP IN PATIENT WITH METASTATIC RECTAL CANCER - AN EXTREMELY RARE OCCURRENCE

Familial adenomatous polyposis [FAP] is a rare autosomal disorder. FAP presenting with Gardner syndrome is even rarer. Gardner syndrome as the first manifestation of FAP without any prior family history is even scarcer. We hereby report the case of 32 years healthy male referred to our otolaryngology clinic with a neck mass and ultimately diagnosed with a case of Gardner syndrome with FAP and advanced rectal Cancer. The patient had a successful gastrointestinal surgery with follow up chemotherapy. Subsequently the patient was followed up at the gastroenterology, oncology and surgical clinic. Literature searched was done and the extra colonic manifestations of the diseases are highlighted in our discussion.

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% 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.

Gardner syndrome

A 58-year-old male patient was referred for a panoramic radiograph after having presented with a hard swelling of the right mandible. Panoramic radiographic examination (Fig. 1) demonstrated multiples dental anomalies and variable bone densities in both jaws prompting clinicians to “dig” further. Teeth 17, 12, 11, 26 and 27 were missing. Teeth 13, 23, 24, 25, 38, 34, 33 and 43 were unerupted. An unerupted supernumerary left mandibular molar appeared in the region of the mandibular coronoid process. Multiple, small, well-defined radiopacities of density comparable to odontogenic material were evident in the anterior maxilla and mandible. These opacities often demonstrated radiolucent borders consistent with the finding of multiple odontomas. Both jaws demonstrated variable bone density. Cottonwool like opacities partially blending into adjacent trabeculae were evident in the mandible and maxilla posteriorly. The contour of the inferior border of the mandible bilaterally in proximity to the angle was irregular with multiple, well-defined, smooth, lobulated homogenous radiopacities suggestive of osteomas. The radiographic features of multiple osteomas, odontomas, variable bone density, supernumerary and unerupted teeth warranted the referral of the patient for gastroenterological investigation to exclude Gardner Syndrome.

Efficacy of sorafenib in symptomatic patients with pretreated progressive desmoid tumors.

e23556 Background: Desmoid tumor (DT) is a rare disease characterized by histologically monoclonal fibroblastic proliferation. DT does not have metastatic spread potentially but can be infiltrative and locally aggressive and decrease patients' quality of life. Although current treatment guidelines recommend active surveillance as initial therapy, systemic therapy should be considered in rapidly progressing or symptomatic patients. Systemic treatments for DT include hormonal blockade, cytotoxic chemotherapy, and tyrosine-kinase inhibitors. In this real-life study, we aimed to evaluate the efficacy of sorafenib in patients with progressing or symptomatic DT. Methods: The clinical, pathological, and treatment data of the patients were retrospectively evaluated. Also, prognostic parameters for overall survival were assessed. We used SPSS v.25 for statistical analysis. Kaplan-Meier and Cox-regression analysis were used for survival analysis. Results: Seventeen patients were included in the study. The ratio of female/male patients was 2.4, and the median age was 32 (range,14-65). Four (23.5%) patients had Gardner syndrome. The rates of extra-abdominal and ıntra-abdominal tumor locations were 64.7% and 35.3%, respectively. The median follow-up duration before sorafenib was 6±0.84 years. Before sorafenib, 15 patients had underwent surgical resection. Four (23.5%) patients received adjuvant radiotherapy. All patients received median two-line systemic therapy, and four (23.5%) patients had received chemotherapy. The median treatment duration of sorafenib was 23.4±2.2 months. One- and two-year progression-free survival ratios were 94.1% and 80.7%, respectively. Grade 3-4 toxicities were observed in six (35.2%) of the patients. In univariate analysis, we found that gender (p = 0.012), ECOG performance status (p = 0.032), and history of Gardner syndrome (p = 0.021) were statistically significant prognostic factors for progression-free survival. However, there was no statistically significant between extra-abdominal and ıntra-abdominal tumor locations (p = 0.56). Conclusions: In the study, we observed that sorafenib was an effective treatment option for previously treated advanced desmoid tumors. Despite a small number of patients, we detected that male gender, poor ECOG performance status, and history of Gardner syndrome were negative prognostic factors for progression-free survival.

Gardner syndrome with odontogenic sinusitis: A case report

Gardner syndrome (GS) with odontogenic sinusitis is rare but should be suspected in patients with multiple osteomas of the skull and facial bones, excess teeth, impacted teeth, and odontomas. Early diagnosis of GS and treatment for familial adenomatous polyposis may improve prognosis.

GIANT ACROCHORDON OF LEFT SIDE NECK , A RARE CASE FINDING

Acrochordon are small, benign skin lesions with average size of 2-5 mm but larger lesions known as giant skin tags are rarely found in literature. Skin tags affects any age, including infants and can be frequently seen alone, but in some cases, can be associated with colonic polyp (Gardner syndrome) diabetes, or obesity. Theories about the causes include genetic predisposition, metabolic syndrome, hyperinsulinemia, and even virus infection (papillomavirus) Acrochordon is a clinical diagnosis and generally does not need histopathological confirmation .We are reporting a rare case of giant acrochordon of 1.5 cm found in neck.