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
2009
The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients
Taddei TH, Kacena KA, Yang M, Yang R, Malhotra A, Boxer M, Aleck KA, Rennert G, Pastores GM, Mistry PK. The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients. American Journal Of Hematology 2009, 84: 208-214. PMID: 19260119, PMCID: PMC3008404, DOI: 10.1002/ajh.21362.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAge of OnsetBone Diseases, MetabolicChildCross-Sectional StudiesDisease ProgressionFemaleGaucher DiseaseGenetic HeterogeneityGenetic Predisposition to DiseaseGenotypeGlucosylceramidaseHumansHypergammaglobulinemiaIncidenceJewsMaleMiddle AgedMultiple MyelomaMutation, MissenseNeoplasmsOrgan SpecificityPhenotypePoint MutationRiskVisceraYoung AdultConceptsMultiple myelomaGaucher diseaseSkeletal diseaseRelative riskCancer riskType 1 Gaucher's diseaseCommon lysosomal storage disorderCross-sectional studyOverall cancer riskProgressive skeletal diseaseAdaptive immune systemLysosomal storage disorderAdult patientsEntire cohortLifetime riskNatural courseHematologic malignanciesRelative sparingHematologic diseasesHigh riskHigh incidencePatientsGBA1 geneHomozygous patientsImmune system