0000000000730568

AUTHOR

Nathalie Nadal

showing 2 related works from this author

Identification of novel, clonally stable, somatic mutations targeting transcription factors PAX5 and NKX2-3, the epigenetic regulator LRIF1, and BRAF…

2021

Diagnosis of B-cell chronic lymphocytic leukemia (B-CLL) is usually straightforward, involving clinical, immunophenotypic (Matutes score), and (immuno)genetic analyses (to refine patient prognosis for treatment). CLL cases with atypical presentation (e.g., Matutes ≤ 3) are also encountered, and for these diseases, biology and prognostic impact are less clear. Here we report the genomic characterization of a case of atypical B-CLL in a 70-yr-old male patient; B-CLL cells showed a Matutes score of 3, chromosomal translocation t(14;18)(q32;q21) (BCL2/IGH), mutated IGHV, deletion 17p, and mutations in BCL2, NOTCH1 (subclonal), and TP53 (subclonal). Quite strikingly, a novel PAX5 mutation that w…

MaleProto-Oncogene Proteins B-rafChronic lymphocytic leukemiaCell Cycle ProteinsBiologymedicine.disease_causeSomatic evolution in cancerTranslocation GeneticEpigenesis Genetichematological neoplasmClonal Evolutionimmune system diseaseshemic and lymphatic diseasesExome SequencingmedicineHumansEpigeneticsReceptor Notch1neoplasmsLoss functionExome sequencingAgedHomeodomain ProteinsMutationPAX5 Transcription FactorGeneral Medicinemedicine.diseasePrognosisLeukemia Lymphocytic Chronic B-CellProto-Oncogene Proteins c-bcl-2MutationCancer researchPAX5Tumor Suppressor Protein p53IGHV@Rapid Cancer CommunicationTranscription FactorsCold Spring Harbor Molecular Case Studies
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Ibrutinib, obinutuzumab, and venetoclax in relapsed and untreated patients with mantle cell lymphoma: a phase 1/2 trial.

2020

Abstract Ibrutinib, obinutuzumab, and venetoclax demonstrate synergy in preclinical models of mantle cell lymphoma (MCL). OAsIs (NCT02558816), a single-arm multicenter prospective phase 1/2 trial, aimed to determine the maximum tolerated dose of venetoclax in combination with fixed doses of ibrutinib and obinutuzumab, in relapsed MCL patients. At the venetoclax MTD, extension cohorts were opened for relapsed and untreated patients. Safety and efficacy were secondary objectives. Minimal residual disease (MRD) was assessed by allele-specific oligonucleotide quantitative polymerase chain reaction. Between 14 October 2015 and 29 May 2018, 48 patients were enrolled. No dose-limiting toxicity was…

0301 basic medicineMaleNeoplasm Residualmedicine.medical_treatmentImmunoglobulin Variable RegionHematopoietic stem cell transplantationKaplan-Meier EstimateLymphoma Mantle-CellBiochemistryGastroenterologychemistry.chemical_compound0302 clinical medicinePiperidinesObinutuzumabAntineoplastic Combined Chemotherapy ProtocolsProspective StudiesProspective cohort studyAged 80 and overSulfonamidesHematopoietic Stem Cell TransplantationHematologyMiddle AgedCombined Modality TherapyProgression-Free Survival3. Good healthTreatment Outcome030220 oncology & carcinogenesisIbrutinibFemaleImmunoglobulin Heavy Chainsmedicine.medical_specialtyMaximum Tolerated DoseImmunologyAntibodies Monoclonal Humanized03 medical and health sciencesInternal medicinemedicineHumansProgression-free survivalAgedVenetoclaxbusiness.industryAdenineCell Biologymedicine.diseaseBridged Bicyclo Compounds HeterocyclicGenes p53Minimal residual diseaseHematologic Diseases030104 developmental biologychemistryMutationMantle cell lymphomabusinessFollow-Up StudiesBlood
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