Abstract

MITOCHONDRIAL GENE MUTATIONS IN AMPULLARY CARCINOMA

Kaavya Jayaramayya, Mahalaxmi Iyer and K. S. Santhy*

ABSTRACT

Ampulla of vater carcinoma (AVC), is a rare malignancy that has a high resection rate after surgery. The primary treatment includes Whipple’s procedure followed by adjuvant chemotherapy. It will be beneficial to find specific therapeutic targets to combat this tumor type. As mitochondrial dysfunction has been observed in many malignancies, studying the mitochondrial DNA mutations may be valuable to further the understanding of the condition. Moreover, better knowledge of the lifestyle factors that may contribute to the occurrence of AVCs is required to take preventive measures. In this study we have recruited 116 (n=116) people that includes 58 AVC patients (n=58) and 58 controls who were (±2) age and sex matched. Mitochondrial gene MTCO3 was analyzed for mutations by isolating the DNA and sequencing it. Interestingly, no mitochondrial mutations were observed in the MTCO3 gene in controls or AVC patients. When the life style factors were scrutinized, it was observed that majority of the patients were male and above the age of 50 and alcohol consumption, previous H.pylori infection and physical activity were concomitant with AVC. As this is a pilot study, more research is required in this field to understand the association between mitochondrial dysfunction and AVC. It will also be beneficial to gain a better perceptive on the life style factors that may contribute to tumorigenesis. These will help to provide specific targeted therapy and preventive measures against AVC.

Keywords: Ampulla of vater; AVC; Genetics; Mitochondrial dysfunction; Mutation.