title: Gastrointestinal stromal tumors associated with neurofibromatosis 1: a single centre experience and systematic review of the literature including 252 cases.
abstract: OBJECTIVE
  The objectives of this study were (a) to report our experience regarding the association between neurofibromatosis type 1 (NF1) and gastrointestinal stromal tumors (GISTs); (b) to provide a systematic review of the literature in this field; and (c) to compare the features of NF1-associated GISTs with those reported in sporadic GISTs.
  
  
  METHODS
  We reported two cases of NF1-associated GISTs. Moreover we reviewed 23 case reports/series including 252 GISTs detected in 126 NF1 patients; the data obtained from different studies were analyzed and compared to those of the sporadic GISTs undergone surgical treatment at our centre.
  
  
  RESULTS
  NF1 patients presenting with GISTs had a homogeneous M/F ratio with a mean age of 52.8 years. NF1-associated GISTs were often reported as multiple tumors, mainly incidental, localized at the jejunum, with a mean diameter of 3.8 cm, a mean mitotic count of 3.0/50 HPF, and KIT/PDGFR α wild type. We reported a statistical difference comparing the age and the symptoms at presentation, the tumors' diameters and localizations, and the risk criteria of the NF1-associated GISTs comparing to those documented in sporadic GISTs.
  
  
  CONCLUSIONS
  NF1-associated GISTs seem to have a distinct phenotype, specifically younger age, distal localization, small diameter, and absence of KIT/PDGRF α mutations.
authors.affiliation: Surgical and Medical Department of Translational Medicine, Sant'Andrea Hospital, Faculty of Medicine and Psychology, University of Rome La Sapienza, St. Andrea Hospital, Via di Grottarossa 1035-39, 00189 Rome, Italy.
authors.forename: Pier Federico
authors.initials: PF
authors.lastname: Salvi
authors.affiliation: Surgical and Medical Department of Translational Medicine, Sant'Andrea Hospital, Faculty of Medicine and Psychology, University of Rome La Sapienza, St. Andrea Hospital, Via di Grottarossa 1035-39, 00189 Rome, Italy.
authors.forename: Laura
authors.initials: L
authors.lastname: Lorenzon
authors.affiliation: Surgical and Medical Department of Translational Medicine, Sant'Andrea Hospital, Faculty of Medicine and Psychology, University of Rome La Sapienza, St. Andrea Hospital, Via di Grottarossa 1035-39, 00189 Rome, Italy.
authors.forename: Salvatore
authors.initials: S
authors.lastname: Caterino
authors.affiliation: Surgical and Medical Department of Translational Medicine, Sant'Andrea Hospital, Faculty of Medicine and Psychology, University of Rome La Sapienza, St. Andrea Hospital, Via di Grottarossa 1035-39, 00189 Rome, Italy.
authors.forename: Laura
authors.initials: L
authors.lastname: Antolino
authors.affiliation: Surgical and Medical Department of Translational Medicine, Sant'Andrea Hospital, Faculty of Medicine and Psychology, University of Rome La Sapienza, St. Andrea Hospital, Via di Grottarossa 1035-39, 00189 Rome, Italy.
authors.forename: Maria Serena
authors.initials: MS
authors.lastname: Antonelli
authors.affiliation: Surgical and Medical Department of Translational Medicine, Sant'Andrea Hospital, Faculty of Medicine and Psychology, University of Rome La Sapienza, St. Andrea Hospital, Via di Grottarossa 1035-39, 00189 Rome, Italy.
authors.forename: Genoveffa
authors.initials: G
authors.lastname: Balducci
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D005260:Female; D005770:Gastrointestinal Neoplasms / Q000473:pathology*; D046152:Gastrointestinal Stromal Tumors / Q000473:pathology*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009456:Neurofibromatosis 1 / Q000473:pathology*; D012307:Risk Factors; D055815:Young Adult