Alterations in BRAF gene, and enhanced mTOR and MAPK signaling in dysembryoplastic neuroepithelial tumors (DNTs)
详细信息 查看全文
- 作者：Aanchal Kakkara ; 1 ; Atreye Majumdara ; 1 ; Anupam Kumara ; Manjari Tripathib ; Pankaj Pathaka ; Mehar C. Sharmaa ; Vaishali Suria ; Vivek Tandonc ; Sarat P. Chandrac ; Chitra Sarkara ; sarkar.chitra@gmail.com" class="auth_mail" title="E-mail the corresponding author
- 关键词：Dysembryoplastic neuroepithelial tumor ; Epilepsy ; BRAF ; mTOR ; MAPK
- 刊名：Epilepsy Research
- 出版年：2016
- 出版时间：November 2016
- 年：2016
- 卷：127
- 期：Complete
- 页码：141-151
- 全文大小：4040 K
文摘
- •
BRAF V600E mutation is rare (3.7%) in Dysembryoplastic neuroepithelial tumors (DNT).
- •
BRAF copy number gain is frequent (33%) in DNTs, being reported for the first time.
- •
mTOR (89.7%) and MAPK (50%) activation in DNTs is shown on immunohistochemistry.
- •
Activation of mTOR and MAPK pathways is independent of BRAF alterations.
- •
Suggests a pathogenetic role; provides therapeutic targets in DNT patients.