"The patient, born in 1964, has been followed since her youth in endocrinology out-patient department of the 3 Department of Internal Medicine at the 1 Faculty of Medicine in Prague for the first type of multiple endocrine neoplasia (MEN I), where prolactinsecreting pituitary adenoma, parathyroid adenoma and glucagonoma were gradually discovered. All of these endocrine tumors are among the typical neoplasms occuring in MEN I. However, mediastinal paraganglioma developed in this patient as well. Tumors derived from neural crest, especially adrenal medulla tumors (pheochromocytoma) and paragangliomas, are typical for the second type of multiple endocrine neoplasia (MEN II). The MEN I was found positive in patient's family history, but neither paraganglioma nor pheochromocytoma has been developed in any member of her family. Genetic testing proved that the patient is not a carrier of RET mutations that are typical for MEN II. Genetic testing neither for MEN I nor for other known genes which mutations are associated with increased risk of hereditary paraganglioma have not been carried out yet. The question is whether an overlap of both multiple endocrine neoplasia syndromes has occured in our patient or mediastinal paraganglioma is an exceptional tumor under the MEN I or it may be the MEN X syndrome proven in laboratory rodents and in humans known as MEN IV."@en . "Marek, Josef" . "Diabetologie, metabolismus, endokrinologie, v\u00FD\u017Eiva" . "2"^^ . . . "16" . . "3" . . . "RIV/00064165:_____/13:10174016!RIV14-MZ0-00064165" . "Paraganglioma in a patient with the multiple endocrine neoplasia type I: unusual feature of MEN I, mixed MEN I and MEN II, or MEN IV?"@en . . . "1211-9326" . . "4"^^ . "RIV/00064165:_____/13:10174016" . . "Pacientka, nar. v r. 1964, je od sv\u00E9ho ml\u00E1d\u00ED sledov\u00E1na v endokrinologick\u00E9 ambulanci 3. intern\u00ED kliniky VFN a 1. F UK v Praze pro mnoho\u010Detnou endorkinn\u00ED neoplazii prv\u00E9ho typu (MEN I). Postupoem \u010Dasu se u n\u00ED postupn\u011B objevil prolaktin secernuj\u00EDc\u00ED adenom hypof\u00FDzy, prim\u00E1rn\u00ED hyperparatyre\u00F3za a glukagonom. V\u0161echny tyto endokrinn\u00ED n\u00E1dory se \u0159ad\u00ED mezi typick\u00E9 neopl\u00E1zie vyskytuj\u00EDc\u00ED se u MEN I. U n\u00E1mi popisovan\u00E9 nemocn\u00E9 se v\u0161ak vyvinul tak\u00E9 paragangliom mediastina. N\u00E1dory vych\u00E1zej\u00EDc\u00ED z neuroendokrinn\u00ED tk\u00E1n\u011B, zejm\u00E9na d\u0159en\u011B nadledvin (feochromocytom), jsou typick\u00E9 pro mnoho\u010Detnou endokrinn\u00ED neopl\u00E1zii druh\u00E9ho typu (MEN II). Pacientka m\u00E1 vzhledem k MEN I pozitivn\u00ED rodinnou anamn\u00E9zu, u nikoho z jej\u00ED rodiny se v\u0161ak nevyvinul paragangliom nebo feochromocytom. Genetick\u00E9 testov\u00E1n\u00ED prok\u00E1zalo, \u017Ee nemocn\u00E1 nen\u00ED nositelkou mutac\u00ED RET proto-onkogenu, kter\u00E9 jsou p\u0159\u00ED\u010Dinou MEN II. Genetick\u00E9 testov\u00E1n\u00ED MEN I genu ani dal\u0161\u00EDch gen\u016F, jejich\u017E mutace jsou spojeny s rizikem heredit\u00E1rn\u00EDho paragangliomu, nebylo zat\u00EDm provedeno. Ot\u00E1zkou tedy z\u016Fst\u00E1tv\u00E1, zda u pacientky do\u0161lo k teoretick\u00E9mu p\u0159ekryvu obou syndrom\u016F mnoho\u010Detn\u00E9 endokrinn\u00ED neopl\u00E1zie, nebo zda paragangliom mediastina je raritn\u00EDm n\u00E1dorem v r\u00E1mci MEN I, \u010Di se m\u016F\u017Ee jednat o MEN X prok\u00E1zan\u00FD na laboratorn\u00EDch hlodavc\u00EDch, u lid\u00ED zn\u00E1m\u00FD jako MEN IV."@cs . "Paragangliom u pacientky s mnoho\u010Detnou endokrinn\u00ED neopl\u00E1zi\u00ED typu I (MEN I): neobvykl\u00E1 sou\u010D\u00E1st MEN I, sou\u010Dasn\u00FD v\u00FDskyt MEN I a MEN II, nebo MEN IV?"@cs . "95275" . . . "MEN X; MEN IV; MEN I; Paraganglioma"@en . "Paragangliom u pacientky s mnoho\u010Detnou endokrinn\u00ED neopl\u00E1zi\u00ED typu I (MEN I): neobvykl\u00E1 sou\u010D\u00E1st MEN I, sou\u010Dasn\u00FD v\u00FDskyt MEN I a MEN II, nebo MEN IV?"@cs . "I" . . "Pacientka, nar. v r. 1964, je od sv\u00E9ho ml\u00E1d\u00ED sledov\u00E1na v endokrinologick\u00E9 ambulanci 3. intern\u00ED kliniky VFN a 1. F UK v Praze pro mnoho\u010Detnou endorkinn\u00ED neoplazii prv\u00E9ho typu (MEN I). Postupoem \u010Dasu se u n\u00ED postupn\u011B objevil prolaktin secernuj\u00EDc\u00ED adenom hypof\u00FDzy, prim\u00E1rn\u00ED hyperparatyre\u00F3za a glukagonom. V\u0161echny tyto endokrinn\u00ED n\u00E1dory se \u0159ad\u00ED mezi typick\u00E9 neopl\u00E1zie vyskytuj\u00EDc\u00ED se u MEN I. U n\u00E1mi popisovan\u00E9 nemocn\u00E9 se v\u0161ak vyvinul tak\u00E9 paragangliom mediastina. N\u00E1dory vych\u00E1zej\u00EDc\u00ED z neuroendokrinn\u00ED tk\u00E1n\u011B, zejm\u00E9na d\u0159en\u011B nadledvin (feochromocytom), jsou typick\u00E9 pro mnoho\u010Detnou endokrinn\u00ED neopl\u00E1zii druh\u00E9ho typu (MEN II). Pacientka m\u00E1 vzhledem k MEN I pozitivn\u00ED rodinnou anamn\u00E9zu, u nikoho z jej\u00ED rodiny se v\u0161ak nevyvinul paragangliom nebo feochromocytom. Genetick\u00E9 testov\u00E1n\u00ED prok\u00E1zalo, \u017Ee nemocn\u00E1 nen\u00ED nositelkou mutac\u00ED RET proto-onkogenu, kter\u00E9 jsou p\u0159\u00ED\u010Dinou MEN II. Genetick\u00E9 testov\u00E1n\u00ED MEN I genu ani dal\u0161\u00EDch gen\u016F, jejich\u017E mutace jsou spojeny s rizikem heredit\u00E1rn\u00EDho paragangliomu, nebylo zat\u00EDm provedeno. Ot\u00E1zkou tedy z\u016Fst\u00E1tv\u00E1, zda u pacientky do\u0161lo k teoretick\u00E9mu p\u0159ekryvu obou syndrom\u016F mnoho\u010Detn\u00E9 endokrinn\u00ED neopl\u00E1zie, nebo zda paragangliom mediastina je raritn\u00EDm n\u00E1dorem v r\u00E1mci MEN I, \u010Di se m\u016F\u017Ee jednat o MEN X prok\u00E1zan\u00FD na laboratorn\u00EDch hlodavc\u00EDch, u lid\u00ED zn\u00E1m\u00FD jako MEN IV." . "Paragangliom u pacientky s mnoho\u010Detnou endokrinn\u00ED neopl\u00E1zi\u00ED typu I (MEN I): neobvykl\u00E1 sou\u010D\u00E1st MEN I, sou\u010Dasn\u00FD v\u00FDskyt MEN I a MEN II, nebo MEN IV?" . "Hamplov\u00E1, Barbora" . . . "Paragangliom u pacientky s mnoho\u010Detnou endokrinn\u00ED neopl\u00E1zi\u00ED typu I (MEN I): neobvykl\u00E1 sou\u010D\u00E1st MEN I, sou\u010Dasn\u00FD v\u00FDskyt MEN I a MEN II, nebo MEN IV?" . "[967DDEA4EA7B]" . . "http://www.tigis.cz/images/stories/DMEV/2013/03/05_hamplova.pdf" . . . "Paraganglioma in a patient with the multiple endocrine neoplasia type I: unusual feature of MEN I, mixed MEN I and MEN II, or MEN IV?"@en . "2"^^ . "CZ - \u010Cesk\u00E1 republika" .