DOI: http://dx.doi.org/10.18203/2320-6012.ijrms20150662

Diffuse intestinal ganglioneuromatosis with coexisting gastrointestinal stromal tumour - gastrointestinal manifestations of neurofibromatosis: an unusual case report

Sily Sreedharan, Vineeth Rao, Malini Thomas

Abstract


Gastrointestinal involvement in neurofibromatosis occurs in four major forms: true neurogenic neoplasm; neoplasm arising from interstitial cells of cajal; endocrine tumours & vasculopathy. In our case, a known case of familial neurofibromatosis showed diffuse colonic ganglioneuromatosis & coexisting very low risk gastrointestinal stromal tumour (GIST) in jejunum. For one of its rare associations we are presenting this case.


Keywords


Gastrointestinal, Ganglioneuromatosis, Gastrointestinal stromal tumour, Neurofibromatosis

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References


Fuller CE, Williams GT. Gastrointestinal manifeatations of type-1 Neurofibromatosis (Von Recklinghausen’s disease). Histopathology. 1991;19:1-11.

Abbas Agaimy, Nikolas Vassos, Roland S. Crow. Gastrointestinal manifeatations of neurofibromatosis type-1. J Clin Pathol. 2012;5(9):852-62.

Zooler ME, Rembeck B, Samuelsson M, Angervall L. Malignant & benign tumours in patients with neurofibromatosis type-1 in a defined Swedish population. Cancer. 1997;79:2125-31.

Agaimy A, Markl B, Kitz J, Wunschph, Arnhold H, Fuzesi L, et al. Peripheral nerve sheath tumours of gastrointestinal tract: a multicenter study of 58 patients including anf-1 associated gastric scwanomma & unusual morphologic variants. Virchows Arch. 2010;456:411-22.

Schaldenbrand JD, Appelman HD. Solitary solid stromal gastrointestinal tumors in von Recklinghausen’s disease with minimal smooth muscle differentiation. Hum Pathol. 1984;15:229-32.

Kinoshita K, Hirota S, Isozaki K, Ohashi A, Nishida T, Kitamura Y, et al. Absence of C-kit gene mutation in gastrointestinal stromal lesion from neurofibromatosis type-1. J Pathol. 2004;202:80.