0000000000218444

AUTHOR

Sylvie Hermouet

showing 4 related works from this author

Concordance of assays designed for the quantification of JAK2V617F: a multicenter study

2008

Background Many different techniques have been designed for the quantification of JAK2 V617F allelic burden, sometimes producing discrepant results. Design and Methods JAK2 V617F quantification techniques were compared among 16 centers using 11 assays based on quantitative polymerase chain reaction (with mutation-specific primers or probes, or fluorescent resonance energy transfer/melting curve analysis), allele-specific polymerase chain reaction, conventional sequencing or pyrosequencing. Results A first series of blinded samples (granulocyte DNA, n=29) was analyzed. Seven assays (12 centers) reported values inside the mean±2SD; the mean coefficient of variation was 31%. Sequencing techniq…

MaleSerial dilutionPhenylalanineCoefficient of variationBiologyMelting curve analysislaw.inventionlawhemic and lymphatic diseasesTaqManHumansAllelesPolymerase chain reactionValineOriginal ArticlesHematologyJanus Kinase 2Molecular biologyPedigreePhenotypeReal-time polymerase chain reactionMutationPyrosequencingFemalePrimer (molecular biology)Thrombocythemia EssentialHaematologica
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Presence of calreticulin mutations in JAK2-negative polycythemia vera

2014

Abstract Calreticulin (CALR) mutations have recently been reported in JAK2- and MPL-negative Myeloproliferative Neoplasms (MPN), particularly essential thrombocythemia (ET) and primary myelofibrosis (PMF).The clinical course of sporadic CALR-mutated patients seems to be more indolent than that of JAK2-mutated patients. In contrast, no CALR mutation has been found in the 647 published cases of Polycythemia Vera (PV) patients tested. Consequently, CALR mutations were considered exclusive to JAK2 and MPL mutations. Since 98% of PV patients harbor a JAK2 mutation (mostly the V617F mutation in exon 14 and more rarely, in exon 12), the absence of CALR mutations in PV seemed logical. Here, we desc…

MaleErythrocytesMESH: Thrombocytosismedicine.disease_causeMESH: Polycythemia VeraBiochemistryMESH: Janus Kinase 2MESH: GenotypeHemoglobinsMESH: Aged 80 and overPolycythemia verahemic and lymphatic diseasesPolycythemia VeraMESH: HeterozygoteAged 80 and overThrombocytosisMESH: AgedMutation[SDV.MHEP] Life Sciences [q-bio]/Human health and pathologyJanus kinase 2biologyMESH: ErythrocytesExonsHematologyLeukemiaMESH: HemoglobinsMESH: Primary MyelofibrosisThrombocythemia EssentialHeterozygoteMESH: MutationGenotypeMESH: CalreticulinImmunologyContext (language use)medicineHumansMyelofibrosisAllelesAgedMESH: HumansEssential thrombocythemiabusiness.industryMESH: AllelesCell BiologyJanus Kinase 2medicine.diseaseMESH: MalePrimary MyelofibrosisMESH: Gene DeletionMutationImmunologybiology.proteinCancer researchMESH: Thrombocythemia EssentialCalreticulinMESH: ExonsbusinessCalreticulinGene Deletion[SDV.MHEP]Life Sciences [q-bio]/Human health and pathologyBlood
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Outcome of Refractory Anemia with Ringed Sideroblasts Associated with Marked Thrombocytosis (RARS-T) In a Large Cohort of Patients

2010

Abstract Abstract 4113 Introduction: Most of the data related to RARS-T, a rare disorder, involve small cohorts of patients. We aimed to analyze more patients also considering a variety of myelodysplastic or myeloproliferative disorders. Objective: To compare a large cohort of patients with RARS-T to refractory anemia with ringed sideroblasts (RARS), refractory anemia with ringed sideroblasts and multilineage dysplasia (RARS-MD) or essential thrombocythemia (ET) at the time of diagnosis and during disease evolution, in terms of survival and complications. Materials: Data of a European multi-center study was used including 199 cases of RARS-T 173 cases of RARS, 102 cases of RARS-MD and 431 c…

Pediatricsmedicine.medical_specialtyThrombocytosisbusiness.industryEssential thrombocythemiaorganic chemicalsMyelodysplastic syndromesImmunologyCell BiologyHematologyRefractory anemia with ringed sideroblastsmedicine.diseaseBiochemistryGastroenterologybiological factorsbody regionsLeukemiaMyeloproliferative DisordersDysplasiaInternal medicineembryonic structuresmedicineHemoglobinbusinessneoplasmsBlood
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Clinical Features And Course Of Refractory Anemia With Ring Sideroblasts Associated With Marked Thrombocytosis

2012

Background Refractory anemia with ring sideroblasts associated with marked thrombocytosis was proposed as a provisional entity in the 2001 World Health Organization classification of myeloid neoplasms and also in the 2008 version, but its existence as a single entity is contested. We wish to define the clinical features of this rare myelodysplastic/myeloproliferative neoplasm and to compare its clinical outcome with that of refractory anemia with ring sideroblasts and essential thrombocythemia. Design and Methods We conducted a collaborative retrospective study across Europe. Our database included 200 patients diagnosed with refractory anemia with ring sideroblasts and marked thrombocytosis…

AdultBlood PlateletsMalemedicine.medical_specialtyAdolescentAnemiaAnèmiaRefractory anemia with ringed sideroblastsLower riskGastroenterologyRisk FactorsInternal medicinehemic and lymphatic diseasesmedicineHumansMyeloproliferative neoplasmSurvival analysisAgedRetrospective StudiesTumorsAged 80 and overThrombocytosisThrombocytosisPlatelet CountEssential thrombocythemiabusiness.industryAnemia RefractoryAnemiaHematologyJanus Kinase 2Middle Agedmedicine.diseaseSurvival AnalysisAnemia SideroblasticSurgeryEuropeRefractory anemia with ring sideroblastsMutationFemaleOriginal Articles and Brief ReportsbusinessThrombocythemia Essential
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