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

Karolina Poredska,Petr Jabandziev,Lumir Kunovsky,Michal Eid,Miroslava Chovancova,Vladimir Prochazka,Jiri Dolina,Jakub Vlazny,Zdenek Kala,Tomas Andrasina,Petr Kysela

doi:10.1186/s13000-019-0848-7

Karolina Poredska, Petr Jabandziev + Show 9 more

Open Access

https://doi.org/10.1186/s13000-019-0848-7

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Journal: Diagnostic Pathology	Publication Date: Jul 13, 2019
Citations: 11	License type: open-access

Affiliation: Masaryk University, University Hospital Brno

Abstract

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.

Highlights

Neurofibromatosis type-1 (NF1), called von Recklinghausen disease, is a rare autosomal dominant disorder which can be either inherited or sporadic
The coincidence of gastrointestinal stromal tumor (GIST) and neuroendocrine tumor (NET) is almost pathognomonic for NF1 and should raise a suspicion of this rare disorder in clinical practice
NF1 is caused by a mutation in the tumor suppressor gene NF1 which leads to a decreased production of the protein neurofibromin and subsequently to the risk of developing benign or malignant tumors with a variety of clinical symptoms [2]

Summary

Conclusion

NF1 is a rare genetic disorder diagnosed mainly in children. We present a case report of a male adult patient with triple malignancy (pheochromocytoma, GISTs of the small intestine and ampullary NET) as a first incidental manifestation of NF1. As our case report indicates, diagnosing GIST and NET in one patient is almost pathognomonic for NF1

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