| Autor: |
Karolina Poredska, Lumir Kunovsky, Vladimir Prochazka, Jiri Dolina, Miroslava Chovancova, Jakub Vlazny, Tomas Andrasina, Michal Eid, Petr Jabandziev, Petr Kysela, Zdenek Kala |
| Jazyk: |
angličtina |
| Rok vydání: |
2019 |
| Předmět: |
|
| Zdroj: |
Diagnostic Pathology, Vol 14, Iss 1, Pp 1-4 (2019) |
| Druh dokumentu: |
article |
| ISSN: |
1746-1596 |
| DOI: |
10.1186/s13000-019-0848-7 |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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