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

Journal of Clinical Case Reports
Open Access

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Case Report

Primary Ampullary Adenocarcinoma and Von Recklinghausens Disease: A Rare Association

Taddei A1*, Messerini L2, Papi L3, Castiglione F2, Ringressi MN1 and Bechi P1

1General and Emergency Surgery 2, University of Florence, Florence, Italy

2Department of Human Pathology and Oncology, University of Florence, Florence, Italy

3Genetica Medica, University of Florence, Florence, Italy

Corresponding Author:
Taddei A
Department of Critical Medical Surgery
General and Emergency Surgery 2
University of Florence, Florence, Italy
Tel: +39-348-6533429
Fax: +39-055-4220133
E-mail: [email protected]

Received January 02, 2016; Accepted April 12, 2016; Published April 17, 2016

Citation: Taddei A, Messerini L, Papi L, Castiglione F, Ringressi MN, et al. (2016) Primary Ampullary Adenocarcinoma and Von Recklinghausen’s Disease: A Rare Association. J Clin Case Rep 6:760. doi:10.4172/2165-7920.1000760

Copyright: © 2016 Taddei A, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

 

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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