Ampullary Adenocarcinoma in Neurofibromatosis Type 1. Case Report and Literature Review

Abstract

Periampullary tumors in patients affected by Neurofibromatosis Type 1 (NF-1) are usually carcinoids or stromal tumors and, rarely, adenocarcinomas. We report a case of an adenocarcinoma of the ampulla of Vater in a 54-year-old woman with NF-1 admitted to the hospital with jaundice and undergoing pancreato-duodenectomy. Histologically, the resected specimen showed an adenocarcinoma of the ampulla as being a part of a complex atypical epithelial proliferation extended from the papilla to the mucosa of the duodenum and distal choledochus, islet-cell adenomatosis of the pancreas and multiple gastric, duodenal, jejunal stromal tumors. The ampullary and periampullary adenocarcinomas in NF-1 patients have peculiar features, suggesting a widespread predisposition to cancer development in periampullary tissues and requiring widely demolitive surgery. Moreover, they occur at a younger age than those occurring in non-NF-1 patients, may be associated with additional periampullary epithelial tumors, are often operable and may present long survival.

Multiple Gastrointestinal Stromal Tumors and Their Association with Other Rare Tumors: Case Report

“…The im mu nop ro fi le se en in our pa ti ent matc hed the fin dings des cri bed in the 12 pa ti ents of Kang et al 4 Pa ti ents with NF1, de ve lop ot her signs of the di se a se, inc lu ding skin ma ni fes ta ti ons (axil lary freck ling, café au la it spots), ne u ro lo gi cal di sor ders (cog ni ti ve de fi cits and se i zu res), ex tra in tes ti nal neop lasms (phe oc hro mocy to mas, tu mors of the central ner vo us system), and the ne op lasms of the gas tro in tes ti nal tract (am pul lary ade no mas and ade no car ci no mas, so ma tos ta ti no mas, gang li ocy tic pa ra gang li o mas, co lo rec tal car ci no mas, and GISTs). [4][5][6][7] In the cur rent se ri es, ca se 1 had pan crea tic so ma tos ta ti no ma and ca se 2 had ade nom yo ma in am pul la va tery and sig net ring cell type gas tric ade no car ci no ma.…”

“…Be ca u se NF1 has be en shown to ari se from an NF1 ge ne on the long arm of chro mo so me 17 and NF1 is a tu mor sup pres sor ge ne in vol ved in growth re gu la ti on, pa ti ents with NF1 ha ve an in cre a sed risk of de ve lo ping non neu ro ge nic ma lig nan ci es. 6,13 To the best of our know led ge, up to year 2000, only 4 ca ses of "so cal le d" pe ri am pul lary so ma tos ta ti no ma as so ci a ted with NF1 ha ve be en re por ted. Our pa ti ent was the fifth ca se in li te ra tu re, mul tip le GISTs and so matos ta ti no ma in NF1.…”

“…Func tio nally ne u ro fib ro min re du ces cell pro li fe ra ti on by ac ce le ra ting the inac ti va ti on of the pro to on co ge ne p21-ras, which plays a car di nal ro le in mi to ge nic in tra cel lu lar path ways. 6 Alt ho ugh ge ne tic mu ta tions ha ve be en des cri bed and the res pon sib le ge ne pro duct-ne u ro fib ro min-has be en fully cha rac te rized, no fre qu ently re cur ring mu ta ti on has be en iden ti fi ed, and di ag no sis is still ba sed on es tab lished cli ni cal cri te ri a. The "clas si cal tri a d" of symptoms is "café au la i t" spots, cu ta ne o us ne u ro fib ro ma, and ne op lasms of the pe rip he ral or cen tral ner vo us system.…”

“…7 They usu ally oc cur in three prin ci pal forms: hyperp la si a of sub mu co sal or myen te ric ner ve ple xus, GIST and pe ri am pul lary ne u ro en doc ri ne tu mors, so me ti mes as so ci a ted with phe oc hro mocy to ma. 6 Fa mi li al GISTs ha ve be en ob ser ved in kindred's har bo ring germ li ne mu ta ti ons of eit her KIT or PDGFRA. Af fec ted in di vi du als may de ve lop mul tip le GISTs, which are ge ne rally in do lent but may be ha ve ag gres si vely.…”

Carcinoma of Ampulla of Vater: Carcinogenesis and Immunophenotypic Evaluation

“…More rarely, other genetic syndromes are also associated with ampullary adenocarcinoma, as Lynch syndrome (hereditary nonpolyposis colorectal cancer-HNPCC), Neurofibromatosis type I and Muir-Torre syndrome [12,15,16]. Histomolecular changes may occur not only at a specific point, but also over the entire exposed mucosa.…”