Detail
Article
Online article
FT
Medvik - BMC
  • Something wrong with this record ?

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

K. Poredska, L. Kunovsky, V. Prochazka, J. Dolina, M. Chovancova, J. Vlazny, T. Andrasina, M. Eid, P. Jabandziev, P. Kysela, Z. Kala,

. 2019 ; 14 (1) : 77. [pub] 20190713

Language English Country Great Britain

Document type Case Reports, Journal Article

Persistent link   https://www.medvik.cz/link/bmc20006157

Grant support
FNBr, 65269705 Supported by Ministry of Health, Czech Republic - conceptual development of research organization

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.

References provided by Crossref.org

000      
00000naa a2200000 a 4500
001      
bmc20006157
003      
CZ-PrNML
005      
20200526111145.0
007      
ta
008      
200511s2019 xxk f 000 0|eng||
009      
AR
024    7_
$a 10.1186/s13000-019-0848-7 $2 doi
035    __
$a (PubMed)31301733
040    __
$a ABA008 $b cze $d ABA008 $e AACR2
041    0_
$a eng
044    __
$a xxk
100    1_
$a Poredska, Karolina $u Department of Gastroenterology and Internal Medicine, University Hospital Brno, Faculty of Medicine, Masaryk University, Brno, Czech Republic.
245    10
$a Triple malignancy (NET, GIST and pheochromocytoma) as a first manifestation of neurofibromatosis type-1 in an adult patient / $c K. Poredska, L. Kunovsky, V. Prochazka, J. Dolina, M. Chovancova, J. Vlazny, T. Andrasina, M. Eid, P. Jabandziev, P. Kysela, Z. Kala,
520    9_
$a 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.
650    _2
$a gastrointestinální stromální tumory $x komplikace $x diagnostické zobrazování $x genetika $x patologie $7 D046152
650    _2
$a lidé $7 D006801
650    _2
$a mužské pohlaví $7 D008297
650    _2
$a lidé středního věku $7 D008875
650    _2
$a neuroendokrinní nádory $x komplikace $x dietoterapie $x genetika $x patologie $7 D018358
650    _2
$a neurofibromatóza 1 $x komplikace $x diagnostické zobrazování $x genetika $x patologie $7 D009456
650    _2
$a feochromocytom $x komplikace $x diagnostické zobrazování $x genetika $x patologie $7 D010673
655    _2
$a kazuistiky $7 D002363
655    _2
$a časopisecké články $7 D016428
700    1_
$a Kunovsky, Lumir $u Department of Gastroenterology and Internal Medicine, University Hospital Brno, Faculty of Medicine, Masaryk University, Brno, Czech Republic. lumir.kunovsky@gmail.com. Department of Surgery, University Hospital Brno, Faculty of Medicine, Masaryk University, Brno, Czech Republic. lumir.kunovsky@gmail.com.
700    1_
$a Prochazka, Vladimir $u Department of Surgery, University Hospital Brno, Faculty of Medicine, Masaryk University, Brno, Czech Republic.
700    1_
$a Dolina, Jiri $u Department of Gastroenterology and Internal Medicine, University Hospital Brno, Faculty of Medicine, Masaryk University, Brno, Czech Republic.
700    1_
$a Chovancova, Miroslava $u Department of Pathology, University Hospital Brno, Faculty of Medicine, Masaryk University, Brno, Czech Republic.
700    1_
$a Vlazny, Jakub $u Department of Pathology, University Hospital Brno, Faculty of Medicine, Masaryk University, Brno, Czech Republic.
700    1_
$a Andrasina, Tomas $u Department of Radiology and Nuclear Medicine, University Hospital Brno, Faculty of Medicine, Masaryk University, Brno, Czech Republic.
700    1_
$a Eid, Michal $u Department of Hematology, Oncology and Internal Medicine, University Hospital Brno, Faculty of Medicine, Masaryk University, Brno, Czech Republic.
700    1_
$a Jabandziev, Petr $u Department of Pediatrics, University Hospital Brno, Faculty of Medicine, Masaryk University, Brno, Czech Republic.
700    1_
$a Kysela, Petr $u Department of Surgery, University Hospital Brno, Faculty of Medicine, Masaryk University, Brno, Czech Republic.
700    1_
$a Kala, Zdenek $u Department of Surgery, University Hospital Brno, Faculty of Medicine, Masaryk University, Brno, Czech Republic.
773    0_
$w MED00165474 $t Diagnostic pathology $x 1746-1596 $g Roč. 14, č. 1 (2019), s. 77
856    41
$u https://pubmed.ncbi.nlm.nih.gov/31301733 $y Pubmed
910    __
$a ABA008 $b sig $c sign $y a $z 0
990    __
$a 20200511 $b ABA008
991    __
$a 20200526111142 $b ABA008
999    __
$a ok $b bmc $g 1525015 $s 1096213
BAS    __
$a 3
BAS    __
$a PreBMC
BMC    __
$a 2019 $b 14 $c 1 $d 77 $e 20190713 $i 1746-1596 $m Diagnostic pathology $n Diagn Pathol $x MED00165474
GRA    __
$a FNBr, 65269705 $p Supported by Ministry of Health, Czech Republic - conceptual development of research organization
LZP    __
$a Pubmed-20200511

Find record

Citation metrics

Archiving options