alexa Abstract | Primary Ampullary Adenocarcinoma and Von Recklinghausens Disease: A Rare Association
ISSN: 2165-7920

Journal of Clinical Case Reports
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Case Report Open Access

Abstract

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.

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Author(s): Taddei A, Messerini L, Papi L, Castiglione F, Ringressi MN and Bechi P

Keywords

Ampullary adenocarcinoma, NF1, Vater ampulla, Pancreatoduodenectomy, von Recklinghausen’s disease, Medical Case Reports

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