The penetrance of MEN2 pheochromocytoma is not only determined by RET mutations

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F17%3A10364185" target="_blank" >RIV/00216208:11110/17:10364185 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00216208:11130/17:10364185 RIV/00023761:_____/17:N0000008 RIV/00064203:_____/17:10364185 RIV/00064165:_____/17:10364185

Výsledek na webu

<a href="http://dx.doi.org/10.1530/ERC-17-0189" target="_blank" >http://dx.doi.org/10.1530/ERC-17-0189</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1530/ERC-17-0189" target="_blank" >10.1530/ERC-17-0189</a>

Jazyk výsledku

angličtina

Název v původním jazyce

The penetrance of MEN2 pheochromocytoma is not only determined by RET mutations

Popis výsledku v původním jazyce

Multiple endocrine neoplasia type 2A (MEN2A) is a rare syndrome which main component is medullary thyroid carcinoma (MTC). The natural history of MTC is mainly determined by RET mutations. The second main component of MEN2A is pheochromocytoma. The latest American Thyroid Association guidelines suggested ages to begin biological screening for pheochromocytoma depending on RET mutations. However, other factors could modify the natural history of pheochromocytoma. We collected data from a large international cohort, based on 812 patients, and grouped them according to 4 geographical areas: South America, Southern Europe, Central Europe and Western Europe. Our results show that MEN2 pheochromocytoma penetrance is different in South America compared to Europe, with a later age at diagnosis of unilateral and bilateral pheochromocytoma. We hypothesize that modifier variants or environmental factors could explain this difference, but they remain to be determined. Our results emphasize the fact that personalized medicine in MEN2 should not only focus on RET mutations to determine the outcome of this rare syndrome.

Název v anglickém jazyce

The penetrance of MEN2 pheochromocytoma is not only determined by RET mutations

Popis výsledku anglicky

Multiple endocrine neoplasia type 2A (MEN2A) is a rare syndrome which main component is medullary thyroid carcinoma (MTC). The natural history of MTC is mainly determined by RET mutations. The second main component of MEN2A is pheochromocytoma. The latest American Thyroid Association guidelines suggested ages to begin biological screening for pheochromocytoma depending on RET mutations. However, other factors could modify the natural history of pheochromocytoma. We collected data from a large international cohort, based on 812 patients, and grouped them according to 4 geographical areas: South America, Southern Europe, Central Europe and Western Europe. Our results show that MEN2 pheochromocytoma penetrance is different in South America compared to Europe, with a later age at diagnosis of unilateral and bilateral pheochromocytoma. We hypothesize that modifier variants or environmental factors could explain this difference, but they remain to be determined. Our results emphasize the fact that personalized medicine in MEN2 should not only focus on RET mutations to determine the outcome of this rare syndrome.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30202 - Endocrinology and metabolism (including diabetes, hormones)

Projekt

<a href="/cs/project/NV16-32665A" target="_blank" >NV16-32665A: Nádory štítné žlázy u dětí a dospívajících a jejich molekulárně genetická podstata</a><br>

Návaznosti

V - Vyzkumna aktivita podporovana z jinych verejnych zdroju

Rok uplatnění

2017

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Endocrine-Related Cancer

ISSN

1351-0088

e-ISSN

—

Svazek periodika

24

Číslo periodika v rámci svazku

8

Stát vydavatele periodika

GB - Spojené království Velké Británie a Severního Irska

Počet stran výsledku

5

Strana od-do

"L63"-"L67"

Kód UT WoS článku

000406493000003

EID výsledku v databázi Scopus

2-s2.0-85042541517