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

Sily Sreedharan; Vineeth Rao; Malini Thomas

doi:10.18203/2320-6012.ijrms20150662

Authors

Sily Sreedharan Assistant Professor, Department of Pathology, Malabar Medical College, Modakkalur, Calicut, Kerala
Vineeth Rao Assistant Professor, Department of Surgery, Malabar Medical College, Modakkalur, Calicut Kerala
Malini Thomas Senior Consultant Pathologist, Calicut Pathology Centre, Calicut, Kerala

DOI:

https://doi.org/10.18203/2320-6012.ijrms20150662

Keywords:

Gastrointestinal, Ganglioneuromatosis, Gastrointestinal stromal tumour, Neurofibromatosis

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.

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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.