TY - JOUR ID - TI - De novo germ-line mutation ofAPCgene in periampullarycarcinoma with familial adenomatous polypseA novel familialcase report in South India AU - Lakshmanan Ananda,b,**, Vijayakumar Padmavathid, Venkatesan Dhivyad,Iyer Mahalaxmid, Vellingiri Balachandar PY - 2016 VL - 2 IS - 4 SP - 266 EP - 270 JO - Karbala International Journal of Modern Science مجلة كربلاء العالمية للعلوم الحديثة SN - 2405609X 24056103 AB - Periampullary carcinoma is a malignant tumour arising from the ampulla of vater. Adenomatous polyposis coli (APC) gene has akey role in stabilizingb-catenin pathway, in which hypermethylation inAPCgene could lead to proteasome degradation ofb-catenin. The aim of this case report is to identify theAPCgene mutation and its influence onb-catenin pathway in patient withperiampullary carcinoma. A 51-year-old woman was diagnosed with yellow discolouration of sclera, passing deep yellow colouredurine and pruritus. A family history of ovarian cancer had been reported in her mother. Her radiological, pathological and laboratoryexamination confirmed periampullary carcinoma. She underwent whipple's pancreaticoduodenectomy, and the histopathology ofthe resected specimen showed a well differentiated adenocarcinoma involving the ampulla of vater. Further, the tumour region wassubjected to genetic screening by polymerase chain reactionerestriction fragment length polymorphism (PCR-RFLP), cytogeneticanalyses such as karyotyping and immunohistochemical techniques. These results showed non-sense mutation inAPCgene atcodon 1309, chromosomal alterations at 5q21 and irregular accumulation ofb-catenin in nuclear membrane. The family historyrevealed a strong association of ovarian cancer (maternal) with a similarAPCgene mutation. We conclude that periampullarycarcinoma patient exhibit FAP due tode novogerm-line mutation ofAPCgene that engenders an inactivation ofb-catenine/TCFmediated transcription function, which is linked with a family history of ovarian cancer.

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