2022
DNMT3A R882 Mutations Confer Unique Clinicopathologic Features in MDS Including a High Risk of AML Transformation
Jawad M, Afkhami M, Ding Y, Zhang X, Li P, Young K, Xu ML, Cui W, Zhao Y, Halene S, Al-Kali A, Viswanatha D, Chen D, He R, Zheng G. DNMT3A R882 Mutations Confer Unique Clinicopathologic Features in MDS Including a High Risk of AML Transformation. Frontiers In Oncology 2022, 12: 849376. PMID: 35296003, PMCID: PMC8918526, DOI: 10.3389/fonc.2022.849376.Peer-Reviewed Original ResearchWorse progression-free survivalProgression-free survivalMyelodysplastic syndromeAML transformationMyeloid neoplasmsMDS casesHigh riskR882 mutationsClonal hematopoiesisIndependent risk factorUnique clinicopathologic featuresTertiary medical institutionsDifferent treatment approachesUnique clinicopathologicExcess blastsSevere leukopeniaClinicopathologic featuresMutant patientsRisk factorsLarge cohortTherapeutic implicationsTreatment approachesClinical implicationsClinical-genomic databaseNeoplasms
2020
Glucosylsphingosine but not Saposin C, is the target antigen in Gaucher disease-associated gammopathy
Nair S, Bar N, Xu ML, Dhodapkar M, Mistry PK. Glucosylsphingosine but not Saposin C, is the target antigen in Gaucher disease-associated gammopathy. Molecular Genetics And Metabolism 2020, 129: 286-291. PMID: 32044242, PMCID: PMC8223251, DOI: 10.1016/j.ymgme.2020.01.009.Peer-Reviewed Original ResearchConceptsGaucher disease type 1Monoclonal gammopathyAntigenic targetsClonal immunoglobulinDisease type 1B cell activationAccumulation of glucosylceramideGD1 patientsImmunogenic lipidsMetabolic inflammationMultiple myelomaGD patientsHigh riskTarget antigenCell activationImmunoglobulin typeGammopathyType 1PatientsGenetic deficiencyAge-related phenotypesSaposin CClonal IgLysosomal glucocerebrosidaseGlcSph