Gastrointestinal and retroperitoneal manifestations of type 1 neurofibromatosis.
BACKGROUND
Type 1 neurofibromatosis (NF1) is a genetic disease characterized by neoplastic and not neoplastic disorders, involving tissues of neuroectodermal or mesenchymal origin. The mainly involved districts are skin, central nervous system, and eye, and there is a wide range of severity of clinical presentations.


METHODS
Abdominal manifestations of NF1 comprehend five categories of tumors: neurogenic with neurofibromas, malignant peripheral nerve sheath tumors and ganglioneuromas, neuroendocrine with pheochromocytomas and carcinoids, non-neurogenic gastrointestinal stromal tumors, i.e., GISTs, and embryonal tumors and miscellaneous.


CONCLUSIONS
Early diagnosis of these abdominal manifestations is very important given the risk of malignancy, organic complications such as in the case of pheochromocytomas or hemorrhagic-obstructive complications such as in the case of the tumors of the gastrointestinal tract (GISTs and neurofibromas). The importance of an annual clinical evaluation on the part of a multidisciplinary pool of clinicians in highly specialized centers allows early detection of complications and of neoplastic transformation.
Basile
Ursula
U
Department of Surgery P. Valdoni, Policlinico Umberto I, Sapienza University, Viale del Policlinico, 00161 Rome, Italy.
Cavallaro
Giuseppe
G
Polistena
Andrea
A
Giustini
Sandra
S
Orlando
Gennaro
G
Cotesta
Dario
D
Petramala
Luigi
L
Letizia
Claudio
C
Calvieri
Stefano
S
De Toma
Giorgio
G
D000008:Abdominal Neoplasms / Q000175:diagnosis; D018236:Carcinoma, Embryonal / Q000175:diagnosis; D018278:Carcinoma, Neuroendocrine / Q000175:diagnosis; D005729:Ganglioneuroma / Q000175:diagnosis; D046152:Gastrointestinal Stromal Tumors / Q000175:diagnosis; D006801:Humans; D018317:Nerve Sheath Neoplasms / Q000175:diagnosis; D009455:Neurofibroma / Q000175:diagnosis; D009456:Neurofibromatosis 1 / Q000175:diagnosis*; D012186:Retroperitoneal Neoplasms / Q000175:diagnosis