Absence of BRAF mutation in pheochromocytoma and paraganglioma

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F17%3A10360729" target="_blank" >RIV/00216208:11110/17:10360729 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00216208:11130/17:10360729 RIV/00064203:_____/17:10360729 RIV/00064165:_____/17:10360729

Výsledek na webu

<a href="http://dx.doi.org/10.4149/neo_2017_215" target="_blank" >http://dx.doi.org/10.4149/neo_2017_215</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.4149/neo_2017_215" target="_blank" >10.4149/neo_2017_215</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Absence of BRAF mutation in pheochromocytoma and paraganglioma

Popis výsledku v původním jazyce

Pheochromocytomas and Paragangliomas (PHEO/PARA) are rare endocrine tumors originating from the adrenal medulla. More than 20 genes are involved in the tumorigenesis of these tumors, but a substantial part of the causative genetic events remains unexplained. A recent study has reported the presence of the activating BRAF V600E mutation in PCC, suggesting a role for BRAF activation in tumor development. Other studies have not find this mutation. This study investigates the occurrence of the BRAF V600E mutation in these tumors. A cohort of 64 PHEO/PARA were screened for the BRAF V600E mutation using direct Sanger sequencing and QRT-PCR. All cases investigated displayed wild-type without V600E BRAF mutation Taken together with all previously screened tumors up to date, only 1 V600E BRAF mutation has been found among 427 PCCs. These findings imply that the V600E BRAF mutation is a rare event in PHEO/PARA.

Název v anglickém jazyce

Absence of BRAF mutation in pheochromocytoma and paraganglioma

Popis výsledku anglicky

Pheochromocytomas and Paragangliomas (PHEO/PARA) are rare endocrine tumors originating from the adrenal medulla. More than 20 genes are involved in the tumorigenesis of these tumors, but a substantial part of the causative genetic events remains unexplained. A recent study has reported the presence of the activating BRAF V600E mutation in PCC, suggesting a role for BRAF activation in tumor development. Other studies have not find this mutation. This study investigates the occurrence of the BRAF V600E mutation in these tumors. A cohort of 64 PHEO/PARA were screened for the BRAF V600E mutation using direct Sanger sequencing and QRT-PCR. All cases investigated displayed wild-type without V600E BRAF mutation Taken together with all previously screened tumors up to date, only 1 V600E BRAF mutation has been found among 427 PCCs. These findings imply that the V600E BRAF mutation is a rare event in PHEO/PARA.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30204 - Oncology

Projekt

—

Návaznosti

S - Specificky vyzkum na vysokych skolach<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2017

Kód důvěrnosti údajů

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

Název periodika

Neoplasma

ISSN

0028-2685

e-ISSN

—

Svazek periodika

64

Číslo periodika v rámci svazku

2

Stát vydavatele periodika

SK - Slovenská republika

Počet stran výsledku

5

Strana od-do

278-282

Kód UT WoS článku

000402091900015

EID výsledku v databázi Scopus

2-s2.0-85020485684