Search Results

You are looking at 51 - 60 of 62 items for :

  • "BRAF mutation" x
Clear All
Restricted access

Takuma Hara, Hiroyoshi Akutsu, Shingo Takano, Hiroyoshi Kino, Eiichi Ishikawa, Shuho Tanaka, Hidetaka Miyamoto, Noriaki Sakamoto, Keiichiro Hattori, Mamiko Sakata-Yanagimoto, Shigeru Chiba, Takashi Hiyama, Tomohiko Masumoto and Akira Matsumura

version of the article. Supplementary Figure . . References 1 Brastianos PK , Taylor-Weiner A , Manley PE , Jones RT , Dias-Santagata D , Thorner AR , : Exome sequencing identifies BRAF mutations in papillary craniopharyngiomas . Nat Genet 46 : 161 – 165 , 2014 10.1038/ng.2868 24413733 2 Buslei R , Hölsken A , Hofmann B , Kreutzer J , Siebzehnrubl F , Hans V , : Nuclear beta-catenin accumulation associates with epithelial morphogenesis in craniopharyngiomas . Acta

Restricted access

Xiaolei Hao, Ruie Feng, Yalan Bi, Yuhan Liu, Chunde Li, Tao Lu and Yongji Tian

of BRAF mutations in ECD and LCH. 1 , 6 Currently, regimens including BRAF inhibitors are under investigation. In the Cohen Aubart et al. and Diamond et al. studies, vemurafenib demonstrated clinically meaningful, long-term efficacy in adult patients with BRAF V600E mutant–isolated ECD and –isolated LCH. 2 , 4 In previous mixed ECD and LCH cases, BRAF V600E–positive LCH lesions sometimes occurred concomitant with BRAF V600E–positive ECD lesions. 8 In this condition, the effect of BRAF inhibitors has not been identified, especially for children

Free access

Ian F. Pollack, Sameer Agnihotri and Alberto Broniscer

study of this modality are expected in the near future. Molecular Insights, Current Status, and Future Directions While the above studies were in progress, a series of molecular analyses demonstrated that many pilocytic astrocytomas exhibit translocations or, less commonly, activating mutations of the BRAF gene, which may promote tumor development ( Fig. 1A ). 26 , 48 BRAF - KIAA fusions are common in cerebellar and optic pathway pilocytic tumors and lead to constitutive activation of the BRAF protein, whereas BRAF mutations are more common in gangliogliomas

Restricted access

Cheng-Bei Li, Lai-Rong Song, Da Li, Jian-Cong Weng, Li-Wei Zhang, Jun-Ting Zhang and Zhen Wu

recent study by Mastorakos et al., 16 BRAF mutation was verified as an independent beneficial factor predicting better outcomes in patients with brain metastatic melanoma, and BRAF inhibitors (dabrafenib or vemurafenib) demonstrated promising results. To date, few PIMM patients have undergone immunotherapy or targeted therapy, but individualized treatment based on the genetic profile of the patient’s lesion and the therapeutic efficacy of the pertinent therapy should be a promising option. Limitations There was no diffuse-type PIMM in our institutional series based on

Free access

The evolution of surgical management for vertebral column tumors

JNSPG 75th Anniversary Invited Review Article

Jared Fridley and Ziya L. Gokaslan

-positive T cells, namely melanoma, lung, and kidney cancer. 16 Several agents have significant tumor response rates and improved patient survival, namely inhibitors of BRAF , 21 , 40 PD-1, 28 PD-L1, 48 and CTLA-4. 30 BRAF is a proto-oncogene that produces a protein involved in cell growth and is commonly mutated in melanoma patients. Patients with melanoma and a BRAF mutation (V600E) given a BRAF inhibitor have been shown to have significantly improved overall survival and progression-free survival versus traditional chemotherapy. 11 , 21 Inhibition of CTLA

Restricted access

Lauren E. Rotman, James R. Hackney, Benjamin M. McGrew, Winfield S. Fisher III and Curtis J. Rozzelle

patient with CFCS presenting with a large intracerebral hemorrhage and underlying temporal bone mass with histopathologic features most consistent with CBT and secondary ABC. Case Report A 20-year-old man with a past medical history of CFCS (diagnosed through confirmation of BRAF mutation, 770A > G nucleotide change), developmental delay, and intractable epilepsy presented to our emergency department in November of 2017 with a complaint of acute onset of lethargy, headache, and emesis earlier that day. He had a precipitous neurological decline in our emergency

Restricted access

Bin Tang, ShenHao Xie, GuanLin Huang, ZhiGang Wang, Le Yang, XuanYong Yang, Shan Xu, ErMing Zeng and Tao Hong

Analysis Recurrent mutations in BRAF , an oncogene that regulates MAPK/ERK signaling and affects cell growth, have been found in 95% of PCPs. 2 On the other hand, CTNNB1 mutations have been found in 75%–96% of ACPs. 3 , 21 In this study, BRAF mutations were observed in all PCPs, and CTNNB1 mutations were observed in 83.3% of ACPs—these results are consistent with previous reports. However, in regard to the TC and NC subtypes, these mutations were not significantly different. This might be due to the fact that most of the TCs and NCs were ACPs and a few of them

Restricted access

Alan R. Cohen

in 4 cases of DIA. 13 Of note, the one tumor that harbored the mutation was located in the fourth ventricle, an atypical site for DIG or DIA. Greer et al. examined archival material for the BRAF mutation from 6 cases of DIG/DIA and found it to be absent in 5. A single DIG was found to harbor the V600D mutation. 14 Koelsche and colleagues examined 18 cases of DIG/DIA and found the V600E mutation in 2 of 16 cases of DIG and 1 of 2 cases of DIA. 19 Chatterjee et al. analyzed 8 cases of DIG/DIA and found the BRAF V600E mutation in 4 of them; 8 all 4 with the

Restricted access

Soliman Oushy, Avital Perry, Christopher S. Graffeo, Aditya Raghunathan, Lucas P. Carlstrom and David J. Daniels

. 3 , 31 , 45 BRAF Mutations BRAF V600E is the most common activating mutation of the BRAF encoding genes and has been described across a wide range of tumors, including metastatic melanoma and low-grade glioma. 12 , 14 The BRAF protein has the highest intrinsic activity of any RAF family protein and contributes to the transmission of extracellular signals to the nucleus via the RTK-RAS-RAF-MEK-ERK signaling pathway. 29 , 32 , 38 , 42 Previous studies have observed the BRAF V600E mutation in 55% of all GGCMJs; however, explicit BRAF testing was limited to