Search results for "V600E"

Outcomes of BRAF V600E Pediatric Gliomas Treated With Targeted BRAF Inhibition.

2020

PURPOSE Children with pediatric gliomas harboring a BRAF V600E mutation have poor outcomes with current chemoradiotherapy strategies. Our aim was to study the role of targeted BRAF inhibition in these tumors. PATIENTS AND METHODS We collected clinical, imaging, molecular, and outcome information from patients with BRAF V600E–mutated glioma treated with BRAF inhibition across 29 centers from multiple countries. RESULTS Sixty-seven patients were treated with BRAF inhibition (pediatric low-grade gliomas [PLGGs], n = 56; pediatric high-grade gliomas [PHGGs], n = 11) for up to 5.6 years. Objective responses were observed in 80% of PLGGs, compared with 28% observed with conventional chemotherapy …

Targeted Therapy in Advanced Melanoma With Rare BRAF Mutations

2019

PURPOSE BRAF/MEK inhibition is a standard of care for patients with BRAF V600E/K–mutated metastatic melanoma. For patients with less frequent BRAF mutations, however, efficacy data are limited. METHODS In the current study, 103 patients with metastatic melanoma with rare, activating non-V600E/K BRAF mutations that were treated with either a BRAF inhibitor (BRAFi), MEK inhibitor (MEKi), or the combination were included. BRAF mutation, patient and disease characteristics, response, and survival data were analyzed. RESULTS Fifty-eight patient tumors (56%) harbored a non-E/K V600 mutation, 38 (37%) a non-V600 mutation, and seven had both V600E and a rare BRAF mutation (7%). The most frequent mu…

Loss of SMARCB1 expression in colon carcinoma

2020

International audience; SMARCB1 is a tumor suppressor gene, which is part of SWI/SNF complex involved in transcriptional regulation. Recently, loss of SMARCB1 expression has been reported in gastrointestinal carcinomas. Our purpose was to evaluate the incidence and prognostic value of SMARCB1 loss in colon carcinoma (CC). Patients with stage III CC (n = 1695), and a second cohort of 23 patients with poorly differentiated CC were analyzed. Immunohistochemistry for SMARCB1 was performed on tissue microarrays, and cases with loss of expression were controlled on whole sections. Loss of SMARCB1 was compared with the clinico-pathological and molecular characteristics, and the prognostic value wa…

Fine-Needle Aspiration (FNAB) Molecular Analysis for the Diagnosis of Papillary Thyroid Carcinoma through BRAFv600E mutation and RET/PTC rearrangement

2007

Objective: To evaluate BRAFV600E mutation on consecutive fine-needle aspiration biopsy (FNAB) specimens in order to assess FNAB’s usefulness in preoperative papillary thyroid carcinoma (PTC) diagnosis with the contemporaneous analysis of RET=PTC1 and RET=PTC3 rearrangements obtained from ex vivo thyroid nodules. Design: Thyroid FNABs from 156 subjects with nodules and 49 corresponding surgical samples were examined for the presence of BRAF mutation by real-time allele-specific polymerase chain reaction, confirmed with the use of a laser pressure catapulting system. Samples were also examined for RET=PTC rearrangements. The results were compared with the cytological diagnosis and histopathol…

Cutaneous mosaic syndromes associated with early postzygotic activating BRAF mutations

2017

IF 3.528; International audience

BRAFV600E MUTATION, TISSUE INHIBITOR OF METALLOPROTEINASE-1 UPREGULATION AND NF-KB ACTIVATION: CLOSING THE LOOP ON THE PAPILLARY THYROID CANCER TRILO…

2011

BRAFV600E is the most common mutation in papillary thyroid carcinoma (PTC). Tissue inhibitor of metalloproteinases (TIMP-1) and Nuclear Factor (NF)-kB have been shown to play an important role in thyroid cancer. Our aim was to evaluate whether an interplay among these three factors exerts a functional role in PTCs. 56 PTC specimens were analyzed for BRAFV600E mutation, TIMP-1 expression and NF-kB activation by real-time allele-specific amplification, realtime quantitative PCR (qRT-PCR) and electroforetic mobility shift assay (EMSA), respectively. We show that BRAFV600E mutation occurs selectively in PTC nodules and determines up-regulation of TIMP-1 and hyperactivation of NF-kB. In addition…

BRAFV660E mutation and Timp-1 hyper-expression in classical variants of papyllary thyroid carcinoma.

2009

IMMUNOHISTOCHEMICAL DETECTION OF BRAF V600E MUTATION IN AMELOBLASTOMA

2021

Melanomas klīnisko un patohistoloģisko rādītāju korelatīvais pētījums

2020

Ievads. Lai gan pēdējā laikā ir ievērojami sasniegumi melanomas ārstēšanā, tomēr melanomas pacienta prognoze ir atkarīga no slimības stadijas diagnozes laikā. Darba mērķis. Novērtēt klīniskos un patohistoloģiskos rādītājus pacientiem ar primāru ādas melanomu. Materiāli un metodes. Pētījums tika veikts LU Medicīnas Fakultātes un Rīgas Austrumu Universitātes slimnīcās Patoloģijas centrā. Pētījums bija retrospektīvs, kura ietvaros tika veikta klīnisko un patohistoloģisko rādītāju novērtēšana. Pētījums tika veikts laika periodā no 01.10.2019. līdz 31.05.2020. Pētījumā tika iekļauti 71 pacients vecumā no 18 līdz 85 gadiem. Rezultāti. Retrospektīvā pētījumā tika iesaistīts 71 pacients ar vidējo v…

BRAFV600E mutation, TIMP-1 upregulation, and NF-κB activation: closing the loop on the papillary thyroid cancer trilogy.

2011

BRAFV600E is the most common mutation found in papillary thyroid carcinoma (PTC). Tissue inhibitor of metalloproteinases (TIMP-1) and nuclear factor (NF)-κB have been shown to play an important role in thyroid cancer. In particular, TIMP-1 binds its receptor CD63 on cell surface membrane and activates Akt signaling pathway, which is eventually responsible for its anti-apoptotic activity. The aim of our study was to evaluate whether interplay among these three factors exists and exerts a functional role in PTCs. To this purpose, 56 PTC specimens were analyzed for BRAFV600E mutation, TIMP-1 expression, and NF-κB activation. We found that BRAFV600E mutation occurs selectively in PTC nodules an…