Neurofibromatosis (NF1 or von Recklinghausen's disease) is a common autosomal dominant disease associated with a higher incidence of neoplasms than in the general population. We report the case of a 60-year-old woman affected by NF1 who was coincidentally diagnosed with a gastrointestinal stromal tumor, a breast carcinoma and a peripheral nervous system tumor.
BrasfieldR.D., Das GuptaT.K.: Von Recklinghausen's disease: a clinicopathological study. Ann Surg, 175: 86–104, 1972.
2.
PinsonS., WolkensteinP.: Neurofibromatosis type 1 or Von Recklinghausen's disease. Rev Med Interne, 26: 196–215, 2005.
3.
NunesT.F., CostaR.P., NavarroF.C.: Von Recklinghausen's disease with urogenital manifestation. Int Braz J Urol, 31: 153–154, 2005.
4.
NemotoH., TateG., SchirinziA., SuzukiT., SasayaS., YoshizawaY., MidorikawaT., MitsuyaT., DallapiccolaB., SanadaY.: Novel NF1 mutation in a Japanese patient with neurofibromatosis type 1 and a gastrointestinal stromal tumor. J Gastroenterol, 41: 378–382, 2006.
5.
TakazawaY., SakuraiS., SakumaY., IkedaT., YamaguchiJ., HashizumeY., YokohamaS., MotegiA., FukayamaM.: Gastrointestinal stromal tumours of neurofibromatosis type 1 (Von Recklinghausen's disease). Am J Surg Pathol, 29: 755–763, 2005.
6.
el-RifaiW., Sarlomo-RikalaM., AnderssonL.C., MiettinenM., KnuutilaS.: DNA copy number changes in gastrointestinal stromal tumors. A distinct genetic entity. Ann Chir Gynaecol, 87: 287–290, 1998.
7.
el-RifaiW., Sarlomo-RikalaM., MiettinenM., KnuutilaS., AnderssonL.C.: DNA copy number losses in chromosome 14: an early change in gastrointestinal stromal tumors. Cancer Res, 56: 3230–3233, 1996.
8.
KinoshitaK., HirotaS., IsozakiK., OhashiA., NishidaT., KitamuraY., ShinomuraY., MatsuzawaY.: Absence of c-kit gene mutations in gastrointestinal stromal tumours from neurofibromatosis type 1 patients. J Pathol, 202: 80–85, 2004.
9.
AnderssonJ., SihtoH., Meis-KindblomJ.M., JoensuuH., NupponeneN., KindblomL.G.: NF1-associated gastrointestinal stromal tumors have unique clinical, phenotypic, and genotypic characteristics. Am J Surg Pathol, 29: 1170–1176, 2005.
10.
BakkerJ.R., HaberM.M., GarciaF.U.: Gastrointestinal neurofibromatosis: an unusual cause of gastric outlet obstruction. Am Surg, 71: 100–105, 2005.