2021
A phase 2 evaluation of pembrolizumab for recurrent Lynch‐like versus sporadic endometrial cancers with microsatellite instability
Bellone S, Roque DM, Siegel ER, Buza N, Hui P, Bonazzoli E, Guglielmi A, Zammataro L, Nagarkatti N, Zaidi S, Lee J, Silasi D, Huang GS, Andikyan V, Damast S, Clark M, Azodi M, Schwartz PE, Tymon‐Rosario J, Harold JA, Mauricio D, Zeybek B, Menderes G, Altwerger G, Ratner E, Alexandrov LB, Iwasaki A, Kong Y, Song E, Dong W, Elvin JA, Choi J, Santin AD. A phase 2 evaluation of pembrolizumab for recurrent Lynch‐like versus sporadic endometrial cancers with microsatellite instability. Cancer 2021, 128: 1206-1218. PMID: 34875107, PMCID: PMC9465822, DOI: 10.1002/cncr.34025.Peer-Reviewed Original ResearchMeSH KeywordsAntibodies, Monoclonal, HumanizedDNA Mismatch RepairEndometrial NeoplasmsFemaleHumansMicrosatellite InstabilityNeoplasm Recurrence, LocalPilot ProjectsProspective StudiesConceptsObjective response rateImmune checkpoint inhibitorsProgression-free survivalEndometrial cancerWhole-exome sequencingSporadic endometrial cancerOverall survivalEnd pointPhase 2 pilot studyPrimary end pointSecondary end pointsTumor mutation burdenPhase 2 evaluationLarger confirmatory studiesAntigen processing/presentationProcessing/presentationCheckpoint inhibitorsSurgical resectionICI resistanceDMMR patientsPrognostic significanceDMMR tumorsMechanisms of resistanceLocal treatmentSporadic MSIA Timely Update of Immunohistochemistry and Molecular Classification in the Diagnosis and Risk Assessment of Endometrial Carcinomas.
Wang M, Hui P. A Timely Update of Immunohistochemistry and Molecular Classification in the Diagnosis and Risk Assessment of Endometrial Carcinomas. Archives Of Pathology & Laboratory Medicine 2021, 145: 1367-1378. PMID: 34673912, DOI: 10.5858/arpa.2021-0098-ra.Peer-Reviewed Original ResearchBiomarkers, TumorCarcinomaDNA Copy Number VariationsDNA Polymerase IIEndometrial NeoplasmsFemaleGene DosageHumansImmunohistochemistryMicrosatellite InstabilityMolecular Diagnostic TechniquesMutationPoly-ADP-Ribose Binding ProteinsPredictive Value of TestsPrognosisTerminology as TopicTumor Suppressor Protein p53
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
2016
Polymerase ε (POLE) ultra-mutation in uterine tumors correlates with T lymphocyte infiltration and increased resistance to platinum-based chemotherapy in vitro
Bellone S, Bignotti E, Lonardi S, Ferrari F, Centritto F, Masserdotti A, Pettinella F, Black J, Menderes G, Altwerger G, Hui P, Lopez S, de Haydu C, Bonazzoli E, Predolini F, Zammataro L, Cocco E, Ferrari F, Ravaggi A, Romani C, Facchetti F, Sartori E, Odicino FE, Silasi DA, Litkouhi B, Ratner E, Azodi M, Schwartz PE, Santin AD. Polymerase ε (POLE) ultra-mutation in uterine tumors correlates with T lymphocyte infiltration and increased resistance to platinum-based chemotherapy in vitro. Gynecologic Oncology 2016, 144: 146-152. PMID: 27894751, PMCID: PMC5183545, DOI: 10.1016/j.ygyno.2016.11.023.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAged, 80 and overAntineoplastic AgentsCarboplatinCarcinomaCD4 Lymphocyte CountCD4-Positive T-LymphocytesCD8-Positive T-LymphocytesCell SurvivalDisease-Free SurvivalDNA Polymerase IIDrug Resistance, NeoplasmEndometrial NeoplasmsFemaleHumansMicrosatellite InstabilityMiddle AgedMutationPoly-ADP-Ribose Binding ProteinsTumor Cells, CulturedConceptsBetter prognosisTumor cell linesInfiltration of CD4Number of CD4Platinum-based chemotherapyT lymphocyte infiltrationPD-1 receptorCell linesLow metastatic capabilityPOLE-mutated tumorsWild-type ECsEC cell linesLymphocyte infiltrationFavorable prognosisPD-1EC patientsType tumorsEnhanced immunogenicityT lymphocytesMolecular subtypesTumors correlatesChemotherapyMetastatic capabilityPrognosisTumorsMismatch repair deficiency testing in clinical practice
Buza N, Ziai J, Hui P. Mismatch repair deficiency testing in clinical practice. Expert Review Of Molecular Diagnostics 2016, 16: 591-604. PMID: 26895074, DOI: 10.1586/14737159.2016.1156533.Peer-Reviewed Original ResearchConceptsLynch syndromeDeficiency testingMismatch repair deficiency testingMicrosatellite instabilityMMR deficiency testingMMR gene deficiencyDNA mismatch repair genesCurrent diagnostic algorithmsLynch syndrome familiesProfound genetic instabilityMicrosatellite instability analysisMismatch repair genesEndometrial malignancyClinical managementUltimate diagnosisClinical OncologyClinical practiceClinical testingTumor tissueSyndromeCancer developmentMMR genesDiagnostic algorithmGene deficiencyGermline DNA
2013
Tissue identity testing of cancer by short tandem repeat polymorphism: pitfalls of interpretation in the presence of microsatellite instability
Much M, Buza N, Hui P. Tissue identity testing of cancer by short tandem repeat polymorphism: pitfalls of interpretation in the presence of microsatellite instability. Human Pathology 2013, 45: 549-555. PMID: 24444463, DOI: 10.1016/j.humpath.2013.10.022.Peer-Reviewed Original ResearchAdaptor Proteins, Signal TransducingAdenocarcinomaAdenosine TriphosphatasesAdultAgedAged, 80 and overAllelesColorectal NeoplasmsDNA Mismatch RepairDNA Repair EnzymesDNA-Binding ProteinsEndometrial NeoplasmsEsophageal NeoplasmsFemaleGenetic LociGenotypeHumansMaleMicrosatellite InstabilityMicrosatellite RepeatsMiddle AgedMismatch Repair Endonuclease PMS2MutL Protein Homolog 1MutS Homolog 2 ProteinNuclear ProteinsPolymorphism, GeneticCancerous ‘floater’: a lesson learned about tissue identity testing, endometrial cancer and microsatellite instability
Bossuyt V, Buza N, Ngo NT, Much MA, Asis MC, Schwartz PE, Hui P. Cancerous ‘floater’: a lesson learned about tissue identity testing, endometrial cancer and microsatellite instability. Modern Pathology 2013, 26: 1264-1269. PMID: 23558568, DOI: 10.1038/modpathol.2013.63.Peer-Reviewed Original ResearchConceptsEndometrial curettageBackground endometriumStaging surgeryEndometrial cancerEndometrial polypsEndometrioid adenocarcinomaEndometrial adenocarcinomaFurther workupPap smearSecretory endometriumDiagnostic workupEndometrial cellsDNA genotypingAdenocarcinoma tissuesMolecular testingMicrosatellite instabilityAllelic patternsAdenocarcinomaPatientsConfirmation of contaminationTissue fragmentsCurettageEndometriumWorkupMolecular pathologists