Search results for "BRAF V600E"

showing 9 items of 9 documents

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 …

0301 basic medicineOncologyCancer Researchmedicine.medical_specialtyHematologyendocrine system diseasesbusiness.industrydigestive system diseases3. Good healthBRAF V600E03 medical and health sciencesenzymes and coenzymes (carbohydrates)030104 developmental biology0302 clinical medicineOncology030220 oncology & carcinogenesisInternal medicineMutation (genetic algorithm)Original Reportsmedicinebusinessskin and connective tissue diseasesneoplasmsChemoradiotherapyJCO precision oncology
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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…

AdultMaleCancer ResearchPathologymedicine.medical_specialtyMedullary cavityTumor suppressor geneSMARCB1[SDV.CAN]Life Sciences [q-bio]/Cancercolon carcinomaYoung AdultGeneticsmedicineHumans0501 psychology and cognitive sciencesStage (cooking)SMARCB1AgedNeoplasm Staging0505 lawTissue microarrayBRAF V600Emismatch repair deficiencybusiness.industry05 social sciencesHistologySMARCB1 ProteinGeneral MedicineMiddle Agedmedicine.diseaseImmunohistochemistry3. Good healthOncologyMedullary carcinomaColonic Neoplasms050501 criminologyImmunohistochemistryFemalebusiness050104 developmental & child psychologyCancer Biomarkers
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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…

AdultMaleProto-Oncogene Proteins B-rafPathologymedicine.medical_specialtyendocrine system diseasesEndocrinology Diabetes and MetabolismBiopsyBiopsy Fine-NeedlePapillarySettore MED/08 - Anatomia PatologicaRET/PTCSettore MED/13 - EndocrinologiaThyroid carcinomaCohort StudiesEndocrinologyPredictive Value of TestsBiopsyCarcinomamedicine80 and overHumansThyroid NeoplasmsAgedRET/PTC RearrangementAged 80 and overGene Rearrangementmedicine.diagnostic_testbusiness.industryCarcinomaProto-Oncogene Proteins c-retGene rearrangementMiddle Agedmedicine.diseaseCarcinoma PapillaryAdult; Aged; 80 and over; Amino Acid Substitution; Biopsy; Fine-Needle; Carcinoma; Papillary; Cohort Studies; Female; Gene Rearrangement; Humans; Male; Middle Aged; Predictive Value of Tests; Proto-Oncogene Proteins B-raf; Proto-Oncogene Proteins c-ret; Thyroid NeoplasmsBrafBRAF V600EFine-needle aspirationAmino Acid SubstitutionMutation (genetic algorithm)Fine-NeedleFemalebusiness
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Cutaneous mosaic syndromes associated with early postzygotic activating BRAF mutations

2017

IF 3.528; International audience

BRAF V600EBRAF G596[SDV.MHEP.DERM] Life Sciences [q-bio]/Human health and pathology/DermatologyBRAF K601N[ SDV.MHEP.DERM ] Life Sciences [q-bio]/Human health and pathology/Dermatology[SDV.MHEP.DERM]Life Sciences [q-bio]/Human health and pathology/DermatologyPostzygotic BRAF mutations
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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…

Klārka līmenisBRAF V600EBreslova dziļumskorelācijamelanomaMedicīna
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BRAF V600E Mutation in Two Distinct Meningeal Melanocytomas Associated With a Nevus of Ota

2014

MaleProto-Oncogene Proteins B-rafCancer ResearchSkin NeoplasmsAdolescentGlutamic AcidNevus of OtaValineMeningeal NeoplasmsmedicineHumansMelanomabusiness.industryValinemedicine.diseaseNevus of OtaBRAF V600ECell Transformation NeoplasticOncologyMutationMutation (genetic algorithm)Cancer researchMelanocytesSignal transductionbusinessSignal TransductionJournal of Clinical Oncology
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Identification of potential inhibitors targeting BRAF-V600E mutant melanoma cells.

2020

Models MolecularProto-Oncogene Proteins B-rafProtein ConformationMutantMutation MissenseDermatologyInhibitory Concentration 50Structure-Activity RelationshipCell Line TumormedicineHumansPoint MutationMolecular Targeted TherapyPrecision MedicineMelanomaProtein Kinase InhibitorsDose-Response Relationship Drugbusiness.industryMelanomaDrug Repositioningmedicine.diseaseNeoplasm ProteinsBRAF V600EMolecular Docking SimulationAmino Acid SubstitutionDrug DesignCancer researchIdentification (biology)Drug Screening Assays AntitumorbusinessJournal of the American Academy of Dermatology
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LGG-16. PREDICTORS OF OUTCOME IN BRAF-V600E PEDIATRIC GLIOMAS TREATED WITH BRAF INHIBITORS: A REPORT FROM THE PLGG TASKFORCE

2019

The BRAF-V600E mutation is found in 15–20% of pediatric low grade gliomas (PLGG) and result in worse outcome and higher risk of transformation to high grade gliomas (PHGG). Although ongoing trials are assessing the role of BRAF inhibitors (BRAFi) in these children, data are still limited. We aimed to report overall response rates and predictors of outcome in childhood BRAF-V600E gliomas. We collected clinical, imaging and molecular information of patients treated with BRAFi outside trials from centers participating in the PLGG taskforce. Response was calculated by RANO criteria and follow up data were collected for all patients. Sixty-six patients were treated with BRAFi (55 PLGG and 11 PHG…

OncologyCancer Researchmedicine.medical_specialtybusiness.industryLow Grade Gliomamedicine.diseaseChemotherapy regimenBRAF V600EOncologyInternal medicineGliomaMutation (genetic algorithm)MedicineLow-Grade GliomaNeurology (clinical)businessneoplasmsNeuro-Oncology
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LGG-59. REMARKABLE OBJECTIVE RESPONSE AND FAVORABLE SURVIVAL FOR BRAF-V600E CHILDHOOD LOW-GRADE GLIOMAS TO BRAF INHIBITORS COMPARED CONVENTIONAL CHEM…

2018

Activation of the MAPK pathway represents a hallmark of pediatric low-grade glioma (pLGG) and is frequently caused by BRAF alterations. BRAF-V600E represent an aggressive type of pLGG with less than optimal response to conventional chemo-radiation approaches. While clinical trials using BRAF-V600E inhibitors are ongoing, these data are not yet available. We have assembled an international cohort of BRAF-V600E glioma patients treated off-label with BRAF inhibitors as a monotherapy. Complete molecular, clinical and imaging data is being collected and compared to previous chemo-radiation therapies. Ongoing data form the taskforce on 40 BRAF-V600E gliomas from 25 international institutions is s…

OncologyCancer Researchmedicine.medical_specialtyendocrine system diseasesbusiness.industrydigestive system diseasesBRAF V600EAbstractsOncologyInternal medicinemedicineConventional chemotherapyNeurology (clinical)businessneoplasmsObjective responseNeuro-Oncology
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