Gastrointestinal Stromal Tumors Associated with Neurofibromatosis 1: A Single Centre Experience and Systematic Review of the Literature Including 252 Cases. (9th December 2013)

• Record Type: Journal Article
• Authors: Salvi, Pier Federico; Lorenzon, Laura; Caterino, Salvatore; Antolino, Laura; Antonelli, Maria Serena; Balducci, Genoveffa
• Other Names: Hochwald Steven N. Academic Editor.
• Is Part Of: International journal of surgical oncology. Volume 2013(2013)
• Publication Date: 2013-12-09
• Subjects: Surgery -- Periodicals; Oncology -- Periodicals; Cancer -- Surgery -- Periodicals; Neoplasms -- surgery; Medical Oncology; Neoplasms; General Surgery; Cancer -- Surgery; Oncology; Surgery; Periodicals; Periodicals; 616.994059
• DOI: 10.1155/2013/398570
• Languages: English
• ISSNs: 2090-1402

Abstract

Abstract : Aims . 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.