Informace o publikaci

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

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POREDSKÁ Karolina KUNOVSKÝ Lumír PROCHÁZKA Vladimír DOLINA Jiří CHOVANCOVÁ Miroslava VLAŽNÝ Jakub ANDRAŠINA Tomáš EID Michal JABANDŽIEV Petr KYSELA Petr KALA Zdeněk

Rok publikování 2019
Druh Článek v odborném periodiku
Časopis / Zdroj Diagnostic Pathology
Fakulta / Pracoviště MU

Lékařská fakulta

Citace
www http://dx.doi.org/10.1186/s13000-019-0848-7
Doi http://dx.doi.org/10.1186/s13000-019-0848-7
Klíčová slova Neurofibromatosis type-1; von Recklinghausen disease; Neuroendocrine tumor; Gastrointestinal stromal tumor; Pheochromocytoma
Popis BackgroundNeurofibromatosis 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 presentationWe 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.ConclusionNF1 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.