2013
Gaucher Disease and Malignancy: A Model for Cancer Pathogenesis in an Inborn Error of Metabolism
Mistry PK, Taddei T, vom Dahl S, Rosenbloom BE. Gaucher Disease and Malignancy: A Model for Cancer Pathogenesis in an Inborn Error of Metabolism. Critical Reviews™ In Oncogenesis 2013, 18: 235-246. PMID: 23510066, PMCID: PMC4437216, DOI: 10.1615/critrevoncog.2013006145.BooksConceptsEnzyme replacement therapyCancer riskGaucher diseaseMacrophage-targeted enzyme replacement therapyChronic B-cell stimulationCancer pathogenesisType 1 Gaucher diseaseSubset of patientsT cell dysfunctionNon-hematological malignanciesOverall cancer riskRisk of cancerNovel therapeutic targetPolarization of macrophagesDeterminant of malignancyB cell stimulationAccumulation of glucosylceramideEndoplasmic reticulum stressLysosomal storage disorderImmune dysregulationChronic inflammationIncreased prevalenceReplacement therapyMultiple myelomaConsecutive cancers
2010
Focal splenic lesions in type I Gaucher disease are associated with poor platelet and splenic response to macrophage‐targeted enzyme replacement therapy
Stein P, Malhotra A, Haims A, Pastores GM, Mistry PK. Focal splenic lesions in type I Gaucher disease are associated with poor platelet and splenic response to macrophage‐targeted enzyme replacement therapy. Journal Of Inherited Metabolic Disease 2010, 33: 769-774. PMID: 20683668, PMCID: PMC3008694, DOI: 10.1007/s10545-010-9175-6.Peer-Reviewed Original ResearchConceptsFocal splenic lesionsEnzyme replacement therapyGD1 patientsReplacement therapySplenic lesionsMacrophage-targeted enzyme replacement therapyPlatelet responseYears of ERTPrevalence of osteonecrosisGaucher disease type IDeterminants of responseType IPoor plateletsAvascular osteonecrosisSuboptimal responseSevere manifestationsSplenic responseIntact spleenClinical significanceSplenic parenchymaPatientsWorse thrombocytopeniaRoutine evaluationSplenomegalyTherapy
2002
Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry
Weinreb NJ, Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, Pastores G, Rosenbloom BE, Scott CR, Wappner RS, Zimran A. Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry. The American Journal Of Medicine 2002, 113: 112-119. PMID: 12133749, DOI: 10.1016/s0002-9343(02)01150-6.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultChildChild, PreschoolCohort StudiesDose-Response Relationship, DrugDrug Administration ScheduleFemaleFollow-Up StudiesGaucher DiseaseGlucosylceramidaseHemoglobinsHumansInfusions, IntravenousLiverMalePain MeasurementPlatelet CountRegistriesRisk AssessmentSpleenStatistics, NonparametricTime FactorsTreatment OutcomeConceptsType 1 Gaucher diseaseYears of treatmentEnzyme replacement therapyBone crisesBone painPlatelet countGaucher diseaseGaucher RegistryReplacement therapyMacrophage-targeted enzyme replacement therapyHemoglobin concentrationShort-term efficacyNormal platelet countFirst lysosomal storage disorderAssessment of responseTimes normal sizeBaseline thrombocytopeniaLysosomal storage disorderAnemic patientsSpleen volumeThrombocytopenic patientsSustained responseIntact spleenSerial measurementsPatients