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.

Základní údaje

Originální název

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

Autoři

POREDSKÁ, Karolina (203 Česká republika, domácí), Lumír KUNOVSKÝ (203 Česká republika, garant, domácí), Vladimír PROCHÁZKA (203 Česká republika, domácí), Jiří DOLINA (203 Česká republika, domácí), Miroslava CHOVANCOVÁ (703 Slovensko, domácí), Jakub VLAŽNÝ (203 Česká republika, domácí), Tomáš ANDRAŠINA (703 Slovensko, domácí), Michal EID (203 Česká republika, domácí), Petr JABANDŽIEV (203 Česká republika, domácí), Petr KYSELA (203 Česká republika, domácí) a Zdeněk KALA (203 Česká republika, domácí)

Vydání

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

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30109 Pathology

Stát vydavatele

Velká Británie a Severní Irsko

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 2.335

Kód RIV

RIV/00216224:14110/19:00110283

Organizační jednotka

Lékařská fakulta

DOI

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

UT WoS

000475789600001

Klíčová slova anglicky

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

Štítky

14110212, 14110213, 14110216, 14110223, 14110230, 14110317, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 11. 5. 2020 09:54, Mgr. Tereza Miškechová

Anotace

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 a 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, roč. 14, č. 77, s. 1-4. ISSN 1746-1596. Dostupné z: 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 a 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, roč.~14, č.~77, s.~1-4. ISSN~1746-1596. Dostupné z: https://dx.doi.org/10.1186/s13000-019-0848-7.

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