TERT promoter mutations are highly recurrent in SHH subgroup medulloblastoma

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14110%2F13%3A00070746" target="_blank" >RIV/00216224:14110/13:00070746 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/65269705:_____/13:#0002126

Výsledek na webu

<a href="http://download.springer.com/static/pdf/422/art%253A10.1007%252Fs00401-013-1198-2.pdf?auth66=1388904723_bf87a0f47053680330d08a9281ebbab5&ext=.pdf" target="_blank" >http://download.springer.com/static/pdf/422/art%253A10.1007%252Fs00401-013-1198-2.pdf?auth66=1388904723_bf87a0f47053680330d08a9281ebbab5&ext=.pdf</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1007/s00401-013-1198-2" target="_blank" >10.1007/s00401-013-1198-2</a>

Jazyk výsledku

angličtina

Název v původním jazyce

TERT promoter mutations are highly recurrent in SHH subgroup medulloblastoma

Popis výsledku v původním jazyce

Abstract Telomerase reverse transcriptase (TERT) promoter mutations were recently shown to drive telomerase activity in various cancer types, including medulloblastoma. However, the clinical and biological implications of TERT mutations in medulloblastoma have not been described. Hence, we sought to describe these mutations and their impact in a subgroup-specific manner. We analyzed the TERT promoter by direct sequencing and genotyping in 466 medulloblastomas. The mutational distributions were determined according to subgroup affiliation, demographics, and clinical, prognostic, and molecular features. Integrated genomics approaches were used to identify specific somatic copy number alterations in TERT promoter-mutated and wild-type tumors. Overall, TERT promoter mutations were identified in 21 % of medulloblastomas. Strikingly, the highest frequencies of TERT mutations were observed in SHH (83 %; 55/66) and WNT (31 %; 4/13) medulloblastomas derived from adult patients.

Název v anglickém jazyce

TERT promoter mutations are highly recurrent in SHH subgroup medulloblastoma

Popis výsledku anglicky

Abstract Telomerase reverse transcriptase (TERT) promoter mutations were recently shown to drive telomerase activity in various cancer types, including medulloblastoma. However, the clinical and biological implications of TERT mutations in medulloblastoma have not been described. Hence, we sought to describe these mutations and their impact in a subgroup-specific manner. We analyzed the TERT promoter by direct sequencing and genotyping in 466 medulloblastomas. The mutational distributions were determined according to subgroup affiliation, demographics, and clinical, prognostic, and molecular features. Integrated genomics approaches were used to identify specific somatic copy number alterations in TERT promoter-mutated and wild-type tumors. Overall, TERT promoter mutations were identified in 21 % of medulloblastomas. Strikingly, the highest frequencies of TERT mutations were observed in SHH (83 %; 55/66) and WNT (31 %; 4/13) medulloblastomas derived from adult patients.

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

FD - Onkologie a hematologie

OECD FORD obor

—

Projekt

—

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2013

Kód důvěrnosti údajů

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

Název periodika

Acta Neuropathologica

ISSN

0001-6322

e-ISSN

—

Svazek periodika

126

Číslo periodika v rámci svazku

6

Stát vydavatele periodika

DE - Spolková republika Německo

Počet stran výsledku

13

Strana od-do

917-929

Kód UT WoS článku

000327100500011

EID výsledku v databázi Scopus

—