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. 2013:2013:398570.
doi: 10.1155/2013/398570. Epub 2013 Dec 9.

Gastrointestinal stromal tumors associated with neurofibromatosis 1: a single centre experience and systematic review of the literature including 252 cases

Pier Federico Salvi  1 , Laura Lorenzon  1 , Salvatore Caterino  1 , Laura Antolino  1 , Maria Serena Antonelli  1 , Genoveffa Balducci  1
Affiliations

Gastrointestinal stromal tumors associated with neurofibromatosis 1: a single centre experience and systematic review of the literature including 252 cases

Pier Federico Salvi et al. Int J Surg Oncol. 2013.

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.

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Figures

Figure 1
Figure 1
Systematic review: study design according to the PRISMA statement.
Figure 2
Figure 2
Abdominal CT scan documenting a 3.6 cm GIST of the stomach.
Figure 3
Figure 3
Cutaneous neurofibromas in patient affected by NF1 and duodenal GIST of the hand (a) and back (b).
See this image and copyright information in PMC

References

    1. Neurofibromatosis Conference statement. National institutes of health consensus development conference. Archives of Neurology. 1988;45:575–578. - PubMed
    1. Takazawa Y, Sakurai S, Sakuma Y, et al. Gastrointestinal stromal tumors of neurofibromatosis type I (von Recklinghausen’s disease) American Journal of Surgical Pathology. 2005;29(6):755–763. - PubMed
    1. Fuller CE, Williams GT. Gastrointestinal manifestations of type 1 neurofibromatosis (von Recklinghausen’s disease) Histopathology. 1991;19(1):1–11. - PubMed
    1. Miettinen M, Lasota J. Gastrointestinal stromal tumors: review on morphology, molecular pathology, prognosis, and differential diagnosis. Archives of Pathology and Laboratory Medicine. 2006;130(10):1466–1478. - PubMed
    1. Miettinen M, Lasota J. Gastrointestinal stromal tumors—definition, clinical, histological, immunohistochemical, and molecular genetic features and differential diagnosis. Virchows Archiv. 2001;438(1):1–12. - PubMed

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