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.

Ampullary Adenocarcinoma and Von Recklinghausen's Disease. A rare Association / Antonio, Taddei; Paolo, Bechi; Luca, Messerini; Francesca, Castiglione; Maria Novella ringressi,. - In: JOURNAL OF CLINICAL CASE REPORTS. - ISSN 2165-7920. - STAMPA. - (2016), pp. 760-763. [10.4172/2165-7920.1000760]

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

Antonio Taddei
;
Paolo Bechi;Luca Messerini;Francesca Castiglione;Maria Novella ringressi
2016

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.
760
763
Goal 3: Good health and well-being
Antonio, Taddei; Paolo, Bechi; Luca, Messerini; Francesca, Castiglione; Maria Novella ringressi,
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2158/1108160
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