High Expression of Mammalian Target of Rapamycin (mTOR) in NF1-Related Periampullary Neuroendocrine Tumors

#701

Introduction: Neurofibromatosis type 1 (NF1) is a rare inherited disorder associated with cutaneous lesions and neoplasms in the nervous and gastroenteropancreatic systems, including periampullary NETs. NF1-coded protein, neurofibromin, is a tumor suppressor that negatively regulates the mammalian target of rapamycin (mTOR). Preclinical in vitro and in vivo studies demonstrated a constitutive activation of mTOR pathway associated with significant antineoplastic effects of mTOR inhibitors in NF1-related glial tumor models.

Aim(s): However, no data are present in the literature on the activation status of the mTOR pathway and response to its specific inhibition in NF1-related NETs.

Materials and methods: Here we report on three male NF1 patients (aged 47, 54 and 59 yrs) affected by a periampullary NET. Case 1 presented resectable tumor, G1, N0; case 2–resectable tumor, G2, N1 with local recurrence and abdominal lymph node involvement one year after surgery; case 3–unresectable tumor, G2, with extensive abdominal lymph node and liver involvement.

Conference: 10th Annual ENETSConcerence (2013)

Presenting Author: Razzore P

Authors: Razzore P, Volante M, Russolillo N, Motta M, Lacidogna G,

Keywords: NF1, periampullar NETs, mTOR ,