TY - JOUR A2 - Hochwald, Steven N. AU - Salvi, Pier Federico AU - Lorenzon, Laura AU - Caterino, Salvatore AU - Antolino, Laura AU - Antonelli, Maria Serena AU - Balducci, Genoveffa PY - 2013 DA - 2013/12/09 TI - Gastrointestinal Stromal Tumors Associated with Neurofibromatosis 1: A Single Centre Experience and Systematic Review of the Literature Including 252 Cases SP - 398570 VL - 2013 AB - 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/PDGFRα 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/PDGRFα mutations. SN - 2090-1402 UR - https://doi.org/10.1155/2013/398570 DO - 10.1155/2013/398570 JF - International Journal of Surgical Oncology PB - Hindawi Publishing Corporation KW - ER -