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01.12.2019 | Case Report | Ausgabe 1/2019 Open Access

Diagnostic Pathology 1/2019

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

Zeitschrift:
Diagnostic Pathology > Ausgabe 1/2019
Autoren:
Karolina Poredska, Lumir Kunovsky, Vladimir Prochazka, Jiri Dolina, Miroslava Chovancova, Jakub Vlazny, Tomas Andrasina, Michal Eid, Petr Jabandziev, Petr Kysela, Zdenek Kala
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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.
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