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/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.
Highlights
Neurofibromatosis type 1 (NF1, von Recklinghausen’s disease) is an autosomal-dominant disorder occurring in 1 out of 3,000 births that is caused by the inactivation of the neurofibromatosis type 1 (NF1) gene
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
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
Summary
Neurofibromatosis type 1 (NF1, von Recklinghausen’s disease) is an autosomal-dominant disorder occurring in 1 out of 3,000 births that is caused by the inactivation of the NF1 gene. NF1 is a tumor suppressor that encodes for the neurofibromin protein, a member of the Ras family. The inactivation might be a familial condition with an autosomal-dominant inheritance pattern; otherwise it might be sporadic [1, 2]. GISTs are mesenchymal and usually kit positive tumors, originating from the interstitial cell of Cajal or their related stem cells [4, 5]. Kit and PDGFRa encode for similar type III receptor tyrosine kinase proteins: these mutations are somatic and occur only in the neoplastic tissue of sporadic GISTs, whereas constitutional mutations in familial GISTs occur in every cell of the body and are inheritable [11,12,13,14]
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