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

J 2019

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

POREDSKÁ, Karolina, Lumír KUNOVSKÝ, Vladimír PROCHÁZKA, Jiří DOLINA, Miroslava CHOVANCOVÁ et. al.

Basic information

Original name

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

Authors

POREDSKÁ, Karolina (203 Czech Republic, belonging to the institution), Lumír KUNOVSKÝ (203 Czech Republic, guarantor, belonging to the institution), Vladimír PROCHÁZKA (203 Czech Republic, belonging to the institution), Jiří DOLINA (203 Czech Republic, belonging to the institution), Miroslava CHOVANCOVÁ (703 Slovakia, belonging to the institution), Jakub VLAŽNÝ (203 Czech Republic, belonging to the institution), Tomáš ANDRAŠINA (703 Slovakia, belonging to the institution), Michal EID (203 Czech Republic, belonging to the institution), Petr JABANDŽIEV (203 Czech Republic, belonging to the institution), Petr KYSELA (203 Czech Republic, belonging to the institution) and Zdeněk KALA (203 Czech Republic, belonging to the institution)

Edition

Diagnostic Pathology, London, BioMed Central, 2019, 1746-1596

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

30109 Pathology

Country of publisher

United Kingdom of Great Britain and Northern Ireland

Confidentiality degree

není předmětem státního či obchodního tajemství

References:

URL

Impact factor

Impact factor: 2.335

RIV identification code

RIV/00216224:14110/19:00110283

Organization unit

Faculty of Medicine

DOI

http://dx.doi.org/10.1186/s13000-019-0848-7

UT WoS

000475789600001

Keywords in English

Neurofibromatosis type-1; von Recklinghausen disease; Neuroendocrine tumor; Gastrointestinal stromal tumor; Pheochromocytoma

Abstract

V originále

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.

Citovat

POREDSKÁ, Karolina, Lumír KUNOVSKÝ, Vladimír PROCHÁZKA, Jiří DOLINA, Miroslava CHOVANCOVÁ, Jakub VLAŽNÝ, Tomáš ANDRAŠINA, Michal EID, Petr JABANDŽIEV, Petr KYSELA and Zdeněk KALA. Triple malignancy (NET, GIST and pheochromocytoma) as a first manifestation of neurofibromatosis type-1 in an adult patient. Diagnostic Pathology. London: BioMed Central, 2019, vol. 14, No 77, p. 1-4. ISSN 1746-1596. Available from: https://dx.doi.org/10.1186/s13000-019-0848-7.

@article{1547980,
   author = {Poredská, Karolina and Kunovský, Lumír and Procházka, Vladimír and Dolina, Jiří and Chovancová, Miroslava and Vlažný, Jakub and Andrašina, Tomáš and Eid, Michal and Jabandžiev, Petr and Kysela, Petr and Kala, Zdeněk},
   article_location = {London},
   article_number = {77},
   doi = {http://dx.doi.org/10.1186/s13000-019-0848-7},
   keywords = {Neurofibromatosis type-1; von Recklinghausen disease; Neuroendocrine tumor; Gastrointestinal stromal tumor; Pheochromocytoma},
   language = {eng},
   issn = {1746-1596},
   journal = {Diagnostic Pathology},
   title = {Triple malignancy (NET, GIST and pheochromocytoma) as a first manifestation of neurofibromatosis type-1 in an adult patient},
   url = {http://dx.doi.org/10.1186/s13000-019-0848-7},
   volume = {14},
   year = {2019}
}

TY  - JOUR
ID  - 1547980
AU  - Poredská, Karolina - Kunovský, Lumír - Procházka, Vladimír - Dolina, Jiří - Chovancová, Miroslava - Vlažný, Jakub - Andrašina, Tomáš - Eid, Michal - Jabandžiev, Petr - Kysela, Petr - Kala, Zdeněk
PY  - 2019
TI  - Triple malignancy (NET, GIST and pheochromocytoma) as a first manifestation of neurofibromatosis type-1 in an adult patient
JF  - Diagnostic Pathology
VL  - 14
IS  - 77
SP  - 1-4
EP  - 1-4
PB  - BioMed Central
SN  - 17461596
KW  - Neurofibromatosis type-1
KW  - von Recklinghausen disease
KW  - Neuroendocrine tumor
KW  - Gastrointestinal stromal tumor
KW  - Pheochromocytoma
UR  - http://dx.doi.org/10.1186/s13000-019-0848-7
L2  - http://dx.doi.org/10.1186/s13000-019-0848-7
N2  - 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.
ER  -

POREDSKÁ, Karolina, Lumír KUNOVSKÝ, Vladimír PROCHÁZKA, Jiří DOLINA, Miroslava CHOVANCOVÁ, Jakub VLAŽNÝ, Tomáš ANDRAŠINA, Michal EID, Petr JABANDŽIEV, Petr KYSELA and Zdeněk KALA. Triple malignancy (NET, GIST and pheochromocytoma) as a first manifestation of neurofibromatosis type-1 in an adult patient. \textit{Diagnostic Pathology}. London: BioMed Central, 2019, vol.~14, No~77, p.~1-4. ISSN~1746-1596. Available from: https://dx.doi.org/10.1186/s13000-019-0848-7.

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