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Case Reports
. 2019 Jul 13;14(1):77.
doi: 10.1186/s13000-019-0848-7.

Triple malignancy (NET, GIST and pheochromocytoma) as a first manifestation of neurofibromatosis type-1 in an adult patient

Karolina Poredska  1 , Lumir Kunovsky  2   3 , Vladimir Prochazka  4 , Jiri Dolina  1 , Miroslava Chovancova  5 , Jakub Vlazny  5 , Tomas Andrasina  6 , Michal Eid  7 , Petr Jabandziev  8 , Petr Kysela  4 , Zdenek Kala  4
Affiliations
Case Reports

Triple malignancy (NET, GIST and pheochromocytoma) as a first manifestation of neurofibromatosis type-1 in an adult patient

Karolina Poredska et al. Diagn Pathol. .

Abstract

Background: Neurofibromatosis type-1 (NF1), also called von Recklinghausen disease, is a rare genetic disease which can lead to the development of benign or even malignant tumors. NF1 is mostly diagnosed in children or early adolescents who present with clinical symptoms. A curative therapy is still missing and the management of NF1 is based on careful surveillance. Concerning tumors which affect the gastrointestinal tract in patients with NF1, the most common is a gastrointestinal stromal tumor (GIST).

Case presentation: We present a case of a 58-year-old adult patient with dyspeptic symptoms who was incidentally diagnosed with triple malignancy (pheochromocytoma, multiple GISTs of small intestine and an ampullary NET) as a first manifestation of NF1. The patient underwent surgical treatment (adrenalectomy and pancreaticoduodenectomy) with no complications and after 2 years remains in oncological remission.

Conclusion: NF1 is a rare genetic disease which can cause various benign or malignant tumors. The coincidence of GIST and NET is almost pathognomonic for NF1 and should raise a suspicion of this rare disorder in clinical practice.

Keywords: Gastrointestinal stromal tumor; Neuroendocrine tumor; Neurofibromatosis type-1; Pheochromocytoma; von Recklinghausen disease.

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Conflict of interest statement

The authors declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
a Abdominal CT (transversal scan) - expansion of the right adrenal gland 4 × 4 cm in size (orange arrow). b Abdominal CT (transversal scan) - tumor of the ampulla of Vater (red arrow) with associated lymphadenopathy (blue arrow). c Abdominal CT (coronal scan) - tumor of the ampulla of Vater (red arrow) with a double-duct sign
Fig. 2
Fig. 2
a Histopathology - pheochromocytoma, tumor with a trabecular pattern of polygonal cells set in rich vascular network. Cells have finely granular cytoplasm, oval nuclei with prominent nucleoli and a coarsely clumped chromatin, without mitotic figures, HE staining, 200x. b Histopathology - pheochromocytoma, diffuse strong positivity of tumor cells, chromogranin, 200x. c Histopathology - pheochromocytoma, diffuse strong positivity of tumor cells, synaptophysin, 200x. d Histopathology - pheochromocytoma, positivity of the sustentacular cells at the periphery of the tumor cell clusters, S100 protein, 200x
Fig. 3
Fig. 3
a Histopathology - GIST (green arrow) and NET (yellow arrow), HE staining, 10x. b Histopathology - diffuse positivity of GIST, negativity of NET, CD117 (c-kit), 10x. c Histopathology - GIST negative, NET diffusely positive, chromogranin, 10x
Fig. 4
Fig. 4
a Histopathology - NET G1, tumor with solid and nesting masses of monotonous small round cells. Cells have moderate amount of finely granular cytoplasm, small nucleoli and “salt and pepper” chromatin pattern. No mitotic figures are seen, HE staining, 100x. b Histopathology - GIST, the tumor cells show plump spindled cell morphology with minimal atypia, without mitotic figures. The cells are arranged in whorls or short intersecting fascicles, with frequent and prominent nuclear palisading, HE staining, 100x
Fig. 5
Fig. 5
Histopathology - lymph node with a metastasis of NET, HE staining, 100x
See this image and copyright information in PMC

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