Triple malignancy (NET, GIST and pheochromocytoma) as a first manifestation of neurofibromatosis type-1 in an adult patient
Jazyk angličtina Země Anglie, Velká Británie Médium electronic
Typ dokumentu kazuistiky, časopisecké články
Grantová podpora
FNBr, 65269705
Supported by Ministry of Health, Czech Republic - conceptual development of research organization
PubMed
31301733
PubMed Central
PMC6626625
DOI
10.1186/s13000-019-0848-7
PII: 10.1186/s13000-019-0848-7
Knihovny.cz E-zdroje
- Klíčová slova
- Gastrointestinal stromal tumor, Neuroendocrine tumor, Neurofibromatosis type-1, Pheochromocytoma, von Recklinghausen disease,
- MeSH
- feochromocytom komplikace diagnostické zobrazování genetika patologie MeSH
- gastrointestinální stromální tumory komplikace diagnostické zobrazování genetika patologie MeSH
- lidé středního věku MeSH
- lidé MeSH
- neuroendokrinní nádory komplikace dietoterapie genetika patologie MeSH
- neurofibromatóza 1 komplikace diagnostické zobrazování genetika patologie MeSH
- Check Tag
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
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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