2019
Paternal uniparental isodisomy of tyrosine hydroxylase locus at chromosome 11p15.4: spectrum of phenotypical presentations simulating hydatidiform moles
Buza N, McGregor SM, Barroilhet L, Zheng X, Hui P. Paternal uniparental isodisomy of tyrosine hydroxylase locus at chromosome 11p15.4: spectrum of phenotypical presentations simulating hydatidiform moles. Modern Pathology 2019, 32: 1180-1188. PMID: 30952972, DOI: 10.1038/s41379-019-0266-0.Peer-Reviewed Original ResearchMeSH KeywordsAbortion, MissedAdultAntineoplastic Combined Chemotherapy ProtocolsBiomarkers, TumorChromosomes, Human, Pair 11CyclophosphamideDactinomycinEtoposideFemaleGenetic LociGenetic Predisposition to DiseaseHumansHydatidiform MoleMaleMethotrexatePhenotypePregnancyTreatment OutcomeTyrosine 3-MonooxygenaseUniparental DisomyUterine NeoplasmsVincristineConceptsPaternal uniparental isodisomyAbnormal trophoblastic proliferationCases of gestationUneventful clinical courseAggressive clinical behaviorUniparental isodisomyTyrosine hydroxylase locusMultiagent chemotherapyClinical courseFirst trimesterClinical complicationsImmunohistochemical featuresClinical behaviorMissed abortionAbnormal gestationsTyrosine hydroxylasePatientsTrophoblastic proliferationVillous cytotrophoblastsStromal cellsPhenotypical presentationChorionic villiGenetic conditionsP57 expressionGestation
2018
Minimal microsatellite shift in microsatellite instability high endometrial cancer: a significant pitfall in diagnostic interpretation
Wu X, Snir O, Rottmann D, Wong S, Buza N, Hui P. Minimal microsatellite shift in microsatellite instability high endometrial cancer: a significant pitfall in diagnostic interpretation. Modern Pathology 2018, 32: 650-658. PMID: 30443012, DOI: 10.1038/s41379-018-0179-3.Peer-Reviewed Original ResearchMeSH KeywordsAgedAged, 80 and overBiomarkers, TumorColorectal Neoplasms, Hereditary NonpolyposisDNA-Binding ProteinsEndometrial NeoplasmsFemaleGenetic LociGenetic Predisposition to DiseaseHumansImmunohistochemistryMicrosatellite InstabilityMiddle AgedMismatch Repair Endonuclease PMS2MutL Protein Homolog 1MutS Homolog 2 ProteinPhenotypePolymerase Chain ReactionPredictive Value of TestsReproducibility of ResultsConceptsEndometrial cancerMLH1/PMS2Endometrial carcinomaMSH6 lossMicrosatellite shiftCancer cohortMismatch repair deficiency testingMicrosatellite instability-high colorectal cancerEndometrial cancer cohortLoss of PMS2Clear cell carcinomaColorectal cancer cohortHigh colorectal cancerLynch syndrome familiesMSH2/MSH6PMS2 lossCell carcinomaColorectal cancerDeficiency testingSolid malignanciesColorectal carcinomaCarcinomaCancerIsolated lossMSH-6