Ampullary Adenocarcinoma and Von Recklinghausen's Disease. A rare Association

Objective: Neurofibromatosis type 1 (NF1) is an autosomal dominant inherited disease. Although only a minority of NF1 patients develops malignancy as a complication of the disorder, cancer (mainly represented by tumors involving the nervous system) remains an important cause of morbidity and mortality. A case of the rare association between adenocarcinoma of the Vater ampulla and NF-1 is here reported. The patient accepted Whipple operation. Histologic analysis of the whole surgical specimen revealed an adenocarcinoma limited to the ampulla of Vater, without lymphonodal involvement. Methods: A study of the possible presence of genetic alterations, which could demonstrate a molecular correlation between NF-1 and periampullary epithelial neoplasms, was performed using the intragenic NF1 microsatellites. Results: Adenocarcinoma sample retained heterozygosity for the informative microsatellites; furthermore, microsatellite analysis was unable to detect any LOH involving the NF1 gene. Conclusion: Our results suggest that Ampulla’s adenocarcinomas are an occasional event in NF1, accordingly to the epithelial but not neuroectodermical origin of this tumour.