De novo germ-line mutation of APC gene in periampullary carcinoma with familial adenomatous polyps – A novel familial case report in South India

AbstractPeriampullary carcinoma is a malignant tumour arising from the ampulla of vater. Adenomatous polyposis coli (APC) gene has a key role in stabilizing β-catenin pathway, in which hypermethylation in APC gene could lead to proteasome degradation of β-catenin. The aim of this case report is to identify the APC gene mutation and its influence on β-catenin pathway in patient with periampullary carcinoma. A 51-year-old woman was diagnosed with yellow discolouration of sclera, passing deep yellow coloured urine and pruritus. A family history of ovarian cancer had been reported in her mother. Her radiological, pathological and laboratory examination confirmed periampullary carcinoma. She underwent whipple's pancreaticoduodenectomy, and the histopathology of the resected specimen showed a well differentiated adenocarcinoma involving the ampulla of vater. Further, the tumour region was subjected to genetic screening by polymerase chain reaction – restriction fragment length polymorphism (PCR-RFLP), cytogenetic analyses such as karyotyping and immunohistochemical techniques. These results showed non-sense mutation in APC gene at codon 1309, chromosomal alterations at 5q21 and irregular accumulation of β-catenin in nuclear membrane. The family history revealed a strong association of ovarian cancer (maternal) with a similar APC gene mutation. We conclude that periampullary carcinoma patient exhibit FAP due to de novo germ-line mutation of APC gene that engenders an inactivation of β-catenine/TCF mediated transcription function, which is linked with a family history of ovarian cancer

Excessive carbohydrate consumption and body mass index: the risk factors for type 2 diabetes mellitus in patients with Prader-Willi syndrome in Tamil Nadu population

Abstract Background Prader-Willi syndrome (PWS) is commonly associated with severe obesity and type 2 diabetes mellitus (T2DM) and is caused by excessive eating. Only very few studies have reported the relationship between excessive eating, weight gain, and T2DM associated with PWS. The aim of the present study was to investigate the relationship between high carbohydrate intake, body mass index (BMI), and the associated risk factor of T2DM development in people with PWS. We collected data from 23 PWS patients along with obesity control (OC) in Tamil Nadu, India. All PWS patients had T2DM whereas only 7 of 23 OC subjects had T2DM. The physical and biochemical parameters were compared in both subjects. We estimated daily intake in grams of food and calories for each item consumed by both PWS and OC subjects (with and without T2DM). Additionally, we compared BMI values and macronutrients, to investigate the occurrence of T2DM in PWS. Results All statistical analyses were done using mean ± SD. PWS subjects showed BMI values that were extremely significant in both adolescent and adult (p value  300 g by PWS patients in Tamil Nadu with BMI ≥ 30 kg/m2 as a risk factor for T2DM. We highly recommend the optimal daily intake of white rice to prevent the development of T2DM in PWS