Search results for " Gene Rearrangement"

showing 5 items of 5 documents

Central nervous system involvement in ALK-rearranged NSCLC : promising strategies to overcome crizotinib resistance

2016

ABSTRACT: Introduction: ALK rearranged Non Small Cell Lung Cancers (NSCLCs) represent a distinct subgroup of patients with peculiar clinic-pathological features. These patients exhibit dramatic responses when treated with the ALK tyrosine kinase inhibitor Crizotinib, albeit Central Nervous System (CNS) activity is much less impressive than that observed against extracranial lesions. CNS involvement has become increasingly observed in these patients, given their prolonged survival. Several novel generation ALK inhibitors have been developing to increase CNS penetration and to provide more complete ALK inhibition. Areas covered: The CNS activity of Crizotinib and novel generation ALK inhibito…

0301 basic medicineLung NeoplasmsSettore MED/06 - Oncologia MedicaPyridinesPyridineDrug ResistanceNSCLCTyrosine-kinase inhibitorALK translocations Brain metastases central nervous system metastases leptomeningeal metastases NSCLC Animals Antineoplastic Agents Brain Neoplasms Carcinoma Non-Small-Cell Lung Drug Design Drug Resistance Neoplasm Gene Rearrangement Humans Lung Neoplasms Protein Kinase Inhibitors Pyrazoles Pyridines Receptor Protein-Tyrosine Kinases Oncology Pharmacology (medical)Cns penetrationAntineoplastic Agent0302 clinical medicinecentral nervous system metastasesCarcinoma Non-Small-Cell Lunghemic and lymphatic diseasesMedicinePharmacology (medical)Anaplastic Lymphoma Kinaseleptomeningeal metastaseNon-Small-Cell LungGene RearrangementBrain NeoplasmsReceptor Protein-Tyrosine Kinasemedicine.anatomical_structureOncology030220 oncology & carcinogenesisNon small cellHumanmedicine.drugBrain metastasemedicine.drug_classCentral nervous systemProtein Kinase InhibitorCNS InvolvementAntineoplastic AgentsALK translocationBrain Neoplasm03 medical and health sciencesCrizotinibAnimalsHumansCns activityCrizotinib resistanceProtein Kinase Inhibitorsleptomeningeal metastasescentral nervous system metastaseCrizotinibAnimalbusiness.industryCarcinomaReceptor Protein-Tyrosine KinasesBrain metastasesLung Neoplasm030104 developmental biologyALK translocationsDrug Resistance NeoplasmDrug DesignPyrazoleImmunologyCancer researchNeoplasmPyrazolesHuman medicinebusinessExpert review of anticancer therapy
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Prevalence and Clinical Outcomes for Patients With ALK Gene Rearrangement in Europe: Preliminary Results from the European Thoracic Oncology Platform…

2012

ABSTRACT Background The prevalence of ALK gene rearrangement (ALK+) in European patients with non-small cell lung cancer (NSCLC) is unknown. The Lungscape project provides a platform to evaluate its expression and clinical significance in a large cohort of patients with resected NSCLC from 13 European sites in 11 countries. Methods Participating sites retrospectively identified cases of NSCLC with clinical demographic and outcome data, and available tissue for research according to predefined protocol criteria. Local ethical and regulatory approvals were adhered to. Clinical data were entered to a central, secure database. Accepted cases on the basis of completeness of clinical data were as…

medicine.medical_specialtyTissue microarrayClinical pathologyALK Gene Rearrangementbusiness.industryHematologymedicine.diseaseOncologyInternal medicineThoracic OncologyCohortmedicineAdenocarcinomaImmunohistochemistryClinical significancebusinessAnnals of Oncology
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Clinical Significance of Rare Copy Number Variations in Epilepsy A Case-Control Survey Using Microarray-Based Comparative Genomic Hybridization

2012

Objective To perform an extensive search for genomic rearrangements by microarray-based comparative genomic hybridization in patients with epilepsy. Design Prospective cohort study. Setting Epilepsy centers in Italy. Patients Two hundred seventy-nine patients with unexplained epilepsy, 265 individuals with nonsyndromic mental retardation but no epilepsy, and 246 healthy control subjects were screened by microarray-based comparative genomic hybridization. Main Outcomes Measures Identification of copy number variations (CNVs) and gene enrichment. Results Rare CNVs occurred in 26 patients (9.3%) and 16 healthy control subjects (6.5%) (P = .26). The CNVs identified in patients were larger (P = …

MaleOncologyendocrine system diseasesMicroarrayGene DosagePreschool Cohort Studies Computational Biology Diagnostic and Statistical Manual of Mental Disorders EpilepsyBioinformaticsPolymerase Chain ReactionFluorescence Intellectual DisabilityCohort StudiesEpilepsySettore MED/38 - Pediatria Generale E SpecialisticaGene DuplicationProspective StudiesCopy-number variationAge of OnsetChildProspective cohort studyIn Situ Hybridization Fluorescenceepidemiology/genetics Nucleic Acid Hybridization Polymerase Chain Reaction Prospective Studies Young AdultGene RearrangementNucleic Acid HybridizationMiddle AgedControl subjectsMagnetic Resonance ImagingDiagnostic and Statistical Manual of Mental Disordersgenetics Female Gene Deletion Gene Dosage Gene Duplication Gene Rearrangement Genome-Wide Association Study Humans In Situ HybridizationItalyRare Copy Number Variations EpilepsyChild PreschoolFemaleepidemiology/genetics ItalyAdultmedicine.medical_specialtyAdolescentBiologyYoung AdultAdolescent Adult Age of Onset Aged Child ChildArts and Humanities (miscellaneous)Intellectual DisabilityInternal medicinemental disordersmedicineHumansIn patientClinical significanceepidemiology Magnetic Resonance Imaging Male Microarray Analysis Middle Aged Nervous System DiseaseAgedEpilepsyComputational BiologyMicroarray Analysismedicine.diseaseSettore MED/03 - Genetica MedicaNeurology (clinical)Nervous System DiseasesGene DeletionGenome-Wide Association StudyComparative genomic hybridization
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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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Detection of translocations affecting the BCL6 locus in B cell non-Hodgkin's lymphoma by interphase fluorescence in situ hybridization

2001

Structural alterations in 3q27 affecting the BCL6 locus are among the most frequent changes in B-NHL. The aim of the present study was to establish an interphase-FISH assay for the detection of all diverse BCL6 translocations in B-NHL. Two different approaches were tested, one using a PAC-clone spanning the major breakpoint region (MBR) of BCL6 (span-assay), and another using two BAC clones flanking the MBR (flank-assay). Interphase FISH with the span-assay detected the various BCL6 translocations in seven B-NHL cell lines. The dual-color flank-assay was evaluated in two laboratories independently: in normal controls, the cutoff level for false-positive signals was 2.6%, whereas the cutoff …

MaleCancer Researchmedicine.medical_specialtyLymphoma B-CellLymphomaMolecular Sequence DataTranslocationChromosomal translocationLocus (genetics)BiologyTranslocation GeneticFluorescenceChromosomesGeneticimmune system diseaseshemic and lymphatic diseasesmedicineHumansIn Situ Hybridization FluorescenceIn Situ HybridizationGeneticsGene Rearrangementmedicine.diagnostic_testBase SequenceBreakpointCytogeneticsB-CellBase Sequence; Chromosome Banding; Female; Gene Rearrangement; Humans; In Situ Hybridization Fluorescence; Karyotyping; Lymphoma B-Cell; Male; Molecular Sequence Data; Chromosomes Human Pair 3; Translocation GeneticHematologyGene rearrangementmedicine.diseaseMolecular biologyChromosome BandingOncologyChromosome 3KaryotypingPair 3FemaleChromosomes Human Pair 3TrisomyFluorescence in situ hybridizationHuman
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