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 phase II evaluation of pembrolizumab in recurrent microsatellite instability-high (MSI-H) endometrial cancer patients with Lynch-like versus MLH-1 methylated characteristics (NCT02899793)
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 J, Mauricio D, Zeybek B, Menderes G, Altwerger G, Ratner E, Alexandrov LB, Iwasaki A, Kong Y, Song E, Dong W, Elvin J, Choi J, Santin AD. A phase II evaluation of pembrolizumab in recurrent microsatellite instability-high (MSI-H) endometrial cancer patients with Lynch-like versus MLH-1 methylated characteristics (NCT02899793). Annals Of Oncology 2021, 32: 1045-1046. PMID: 33932502, PMCID: PMC9465821, DOI: 10.1016/j.annonc.2021.04.013.Commentaries, Editorials and Letters
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
Mismatch 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