Search results for " Janus kinase 2"

showing 4 items of 4 documents

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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Janus kinase (JAK) 2 V617F mutation as the cause of primary thrombocythemia in acromegaly with severe visceromegaly and divergence between growth hor…

2012

OBJECTIVE: An increased prevalence of hematological abnormalities is reported in acromegaly, but to date no reports about the presence of the Janus Kinase (JAK) 2 mutation in acromegalic patients have been described. DESIGN: We report the complex clinical presentation of the unique case, never described, of acromegaly due to GH-secreting pituitary adenoma associated with JAK2 V617F mutation. RESULTS: The patient shows primary thrombocythemia and myelofibrosis, due to JAK2 V617F mutation, severe visceromegaly and a peculiar clinical course of the disease characterized by discrepant values of GH and IGF-1 during somatostatin analog (SA) treatment despite a significant reduction in pituitary a…

Malemedicine.medical_specialtyTime FactorsEndocrinology Diabetes and MetabolismGrowth hormone receptorAcromegaly HGH IGF-1GastroenterologySettore MED/13 - EndocrinologiaCohort StudiesEndocrinologyPituitary adenomahemic and lymphatic diseasesInternal medicineAcromegalymedicineAnimalsHumansPituitary NeoplasmsInsulin-Like Growth Factor IRadiometryMyelofibrosisAgedJanus kinase 2biologyHuman Growth HormonePlatelet Countbusiness.industryJanus Kinase 2medicine.diseaseAcromegaly Growth hormone Insulin-like growth factor-1 Janus kinase 2 Growth hormone receptorEndocrinologyAcromegalyMutationPegvisomantbiology.proteinJanus kinasebusinessVisceromegalyFollow-Up StudiesThrombocythemia Essentialmedicine.drug
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Cardiovascular events and intensity of treatment in polycythemia vera.

2013

A b s t r ac t Background Current treatment recommendations for patients with polycythemia vera call for maintaining a hematocrit of less than 45%, but this therapeutic strategy has not been tested in a randomized clinical trial. Methods We randomly assigned 365 adults with JAK2-positive polycythemia vera who were being treated with phlebotomy, hydroxyurea, or both to receive either more intensive treatment (target hematocrit, <45%) (low-hematocrit group) or less intensive treatment (target hematocrit, 45 to 50%) (high-hematocrit group). The primary composite end point was the time until death from cardiovascular causes or major thrombotic events. The secondary end points were cardiovascula…

MaleHematocritRECURRENT THROMBOSISlaw.inventionAged; Antineoplastic Agents; Cardiovascular Diseases; Combined Modality Therapy; Female; Follow-Up Studies; Humans; Hydroxyurea; Janus Kinase 2; Male; Middle Aged; Polycythemia Vera; Thrombosis; Hematocrit; Phlebotomy; Medicine (all)LEUKOCYTOSISPolycythemia veraRandomized controlled trialPhlebotomylawhemic and lymphatic diseasesESSENTIAL THROMBOCYTHEMIAClinical endpointHydroxyureaPolycythemia Vera Secondary ProphylaxisESSENTIAL THROMBOCYTHEMIA RECURRENT THROMBOSIS RISK-FACTOR HEMATOCRIT MANAGEMENT LEUKOCYTOSIS PREVENTION DIAGNOSIS EFFICACY WARFARINPolycythemia Veramedicine.diagnostic_testMedicine (all)Hazard ratioGeneral MedicineMiddle AgedCombined Modality TherapyHematocritCardiovascular DiseasesFemalemedicine.medical_specialtyrandomized trial; polycythemia veraAntineoplastic AgentsCardiovascular eventDIAGNOSISWARFARINRISK-FACTORInternal medicineMANAGEMENTmedicineHumansMyelofibrosisAdverse effectAgedbusiness.industryThrombosisPhlebotomyJanus Kinase 2EFFICACYmedicine.diseasePREVENTIONSurgeryPolycythemia Vera Cardiovascular event hematocritSettore MED/15 - MALATTIE DEL SANGUEbusinessFollow-Up Studies
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Evidence of jak2 val617phe positive essential thrombocythemia with splanchnic thrombosis during estroprogestinic treatment

2008

The discovery of the Janus kinase 2 Val617Phe mutation has brought new insights into the development of myeloproliferative disorders; however, the pathogenesis of essential thrombocythemia and its related thrombotic complications has not been completely understood. Although the Janus kinase 2 Val617Phe mutation confirms the initially suspected clonal character of the disease, factors influencing clonal transformation and expansion in the bone marrow have not been fully detected. Furthermore, patients affected by essential thrombocythemia who are carriers of the Janus kinase 2 Val617Phe mutation show a higher incidence of venous thromboembolism both before, and at the time of diagnosis, comp…

Adultmedicine.medical_specialtyMutation MissenseOral contraceptiveEssential thrombocythemiaGastroenterologyContraceptives Oral HormonalPathogenesisMesenteric VeinsPortal thrombosisMyeloproliferative DisordersInternal medicinemedicineHumansPlateletSplanchnic CirculationJanus kinase 2Janus kinase 2biologyessential thrombocythemia Janus kinase 2 oral contraceptives portal thrombosisKinaseEssential thrombocythemiaVascular diseasebusiness.industryThrombosisHematologyGeneral Medicinemedicine.diseaseThrombocytopeniaThrombosisEndocrinologybiology.proteinFemalebusiness
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