2020
Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID
Kuhny M, Forbes LR, Çakan E, Vega-Loza A, Kostiuk V, Dinesh RK, Glauzy S, Stray-Pedersen A, Pezzi AE, Hanson IC, Vargas-Hernandez A, Xu ML, Akdemir Z, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR, Chinn IK, Schatz DG, Orange JS, Meffre E. Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID. Journal Of Clinical Investigation 2020, 130: 4411-4422. PMID: 32484799, PMCID: PMC7410074, DOI: 10.1172/jci131297.Peer-Reviewed Original ResearchConceptsB cellsActivation-induced cytidine deaminaseHealthy donor counterpartsIsotype-switched B cellsCommon variable immunodeficiencyMemory B cellsSomatic hypermutationAutoimmune cytopeniasDecreased incidenceVariable immunodeficiencyB cell linesUnderlying molecular defectsNuclear AIDPatient's EBVRamos B cellsPatientsProtein 1Cell linesMolecular defectsCellsCytidine deaminaseMutations
2019
Clinicopathologic and genetic characterization of nonacute NPM1-mutated myeloid neoplasms
Patel SS, Ho C, Ptashkin RN, Sadigh S, Bagg A, Geyer JT, Xu ML, Prebet T, Mason EF, Seegmiller AC, Morgan EA, Steensma DP, Winer ES, Wong WJ, Hasserjian RP, Weinberg OK. Clinicopathologic and genetic characterization of nonacute NPM1-mutated myeloid neoplasms. Blood Advances 2019, 3: 1540-1545. PMID: 31085507, PMCID: PMC6517660, DOI: 10.1182/bloodadvances.2019000090.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAged, 80 and overDNA (Cytosine-5-)-MethyltransferasesDNA Methyltransferase 3AFemaleHumansMaleMiddle AgedMutationMyelodysplastic SyndromesNuclear ProteinsNucleophosminPrognosisProportional Hazards ModelsProtein Tyrosine Phosphatase, Non-Receptor Type 11Survival RateTumor Suppressor Protein p53ConceptsMyelodysplastic syndromeMyeloid neoplasmsDe novo acute myeloid leukemia (AML) patientsNovo acute myeloid leukemia patientsAcute myeloid leukemia patientsBone marrow blastsAggressive clinical courseStem cell transplantLimited case seriesShorter overall survivalMyeloid leukemia patientsIntensive therapeutic regimensTotal mutation countsMarrow blastsOverall survivalClinical courseCase seriesCell transplantMultivariable analysisTherapeutic regimensLeukemia patientsLarge cohortYounger agePatientsNormal karyotype