2022
Cancer risk and gammopathies in 2123 adults with Gaucher disease type 1 in the International Gaucher Group Gaucher Registry
Rosenbloom BE, Cappellini MD, Weinreb NJ, Dragosky M, Revel‐Vilk S, Batista JL, Sekulic D, Mistry PK. Cancer risk and gammopathies in 2123 adults with Gaucher disease type 1 in the International Gaucher Group Gaucher Registry. American Journal Of Hematology 2022, 97: 1337-1347. PMID: 36054609, PMCID: PMC9541044, DOI: 10.1002/ajh.26675.Peer-Reviewed Original ResearchConceptsGD type 1Multiple myelomaGaucher RegistryHematological malignanciesCancer riskGeneral populationSmall single-center studiesType 1Gaucher diseaseAge-specific incidence ratesGaucher disease type 1End Results (SEER) databaseSingle-center studyDiagnosis of MGUSInternational observational studyNon-Hodgkin lymphomaCare of patientsLung cancer riskTypes of malignanciesGeneral US populationDisease type 1Precise risk estimatesUnited States populationGD1 patientsCumulative incidence
2009
Gaucher disease: Resetting the clinical and scientific agenda
Mistry PK, Weinreb NJ, Brady RO, Grabowski GA. Gaucher disease: Resetting the clinical and scientific agenda. American Journal Of Hematology 2009, 84: 205-207. PMID: 19296473, PMCID: PMC2999876, DOI: 10.1002/ajh.21384.Peer-Reviewed Original ResearchThe 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