2022
Characteristics of HER2 Gene Amplification by Fluorescence In Situ Hybridization in Endometrial Serous Carcinoma.
Buza N, Hui P. Characteristics of HER2 Gene Amplification by Fluorescence In Situ Hybridization in Endometrial Serous Carcinoma. Archives Of Pathology & Laboratory Medicine 2022, 146: 0. PMID: 35687792, DOI: 10.5858/arpa.2021-0547-oa.Peer-Reviewed Original ResearchConceptsEndometrial serous carcinomaClinical trial criteriaHER2 gene amplificationTrial criteriaHER2 immunohistochemistrySerous carcinomaAnti-human epidermal growth factor receptor 2 (HER2) therapyClinical Oncology/CollegeHER2 testing algorithmHER2 FISHProspective clinical investigationHER2 IHC 2HER2/CEP17Gene amplificationContext of breastTherapeutic responseIHC 2HER2 amplificationAverage HER2Most tumorsClinical investigationImmunohistochemistryHER2 fluorescenceTumorsMonosomy 17
2021
A 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 p53Immunohistochemical and molecular pathological typing in the differential diagnosis and prognosis risk assessment of endometrial carcinoma
Wang M, Hui P. Immunohistochemical and molecular pathological typing in the differential diagnosis and prognosis risk assessment of endometrial carcinoma. 中华病理学杂志 2021, 50: 1078-1082. PMID: 34496509, DOI: 10.3760/cma.j.cn112151-20210628-00463.Peer-Reviewed Original Research
2020
Does Specimen Type Have an Impact on HER2 Status in Endometrial Serous Carcinoma? Discordant HER2 Status of Paired Endometrial Biopsy and Hysterectomy Specimens in the Presence of Frequent Intratumoral Heterogeneity
Rottmann D, Assem H, Matsumoto N, Wong S, Hui P, Buza N. Does Specimen Type Have an Impact on HER2 Status in Endometrial Serous Carcinoma? Discordant HER2 Status of Paired Endometrial Biopsy and Hysterectomy Specimens in the Presence of Frequent Intratumoral Heterogeneity. International Journal Of Gynecological Pathology 2020, 40: 263-271. PMID: 32897955, DOI: 10.1097/pgp.0000000000000690.Peer-Reviewed Original ResearchConceptsEndometrial serous carcinomaDiscordant HER2 statusHER2 immunohistochemical scoresHER2 protein expressionSerous carcinomaHER2 statusEndometrial biopsies/curettingsImmunohistochemical scoreProtein expressionHER2 testingIntratumoral heterogeneityEndometrial biopsy/curettageProlonged progression-free survivalHuman epidermal growth factor receptor 2Epidermal growth factor receptor 2HER2 testing algorithmProgression-free survivalGrowth factor receptor 2HER2-negative tumorsFinal study cohortHER2-positive tumorsRecent clinical trialsSpecimen typesFactor receptor 2Optimal specimen typesExtragonadal Yolk Sac Tumor Limited to the Myometrium: Report of a Case With Potential Fertility Preservation and Molecular Analysis Suggesting Germ Cell Origin
Simpson S, Simoni M, Hui P, Taylor H, Buza N. Extragonadal Yolk Sac Tumor Limited to the Myometrium: Report of a Case With Potential Fertility Preservation and Molecular Analysis Suggesting Germ Cell Origin. International Journal Of Gynecological Pathology 2020, 39: 247-253. PMID: 31033797, DOI: 10.1097/pgp.0000000000000601.Peer-Reviewed Original ResearchConceptsYolk sac tumorExtragonadal yolk sac tumorGerm cell originFuture fertilityIntraoperative frozen section evaluationCell originPatient's strong desirePostpubertal female patientsEvidence of diseaseFrozen section evaluationMarked nuclear atypiaClear treatment algorithmRare malignant neoplasmHigh-grade malignancyEosinophilic hyaline globulesNext-generation sequencing resultsAdjuvant chemotherapySurgical stagingAbdominal myomectomyNulligravid womenIrregular bleedingUterine closureWedge resectionYounger patientsFemale patientsBilateral Signet-ring Stromal Tumor of the Ovary: A Case Report With Next-generation Sequencing Analysis and FOXL2 Mutation Testing
Chen PH, Hui P, Buza N. Bilateral Signet-ring Stromal Tumor of the Ovary: A Case Report With Next-generation Sequencing Analysis and FOXL2 Mutation Testing. International Journal Of Gynecological Pathology 2020, 39: 193-198. PMID: 30676431, DOI: 10.1097/pgp.0000000000000579.Peer-Reviewed Case Reports and Technical NotesMeSH KeywordsAgedBiomarkers, TumorCarcinoma, Signet Ring CellFemaleForkhead Box Protein L2High-Throughput Nucleotide SequencingHumansOvarian NeoplasmsConceptsSignet-ring stromal tumorStromal tumorsNext-generation sequencing analysisBilateral solid ovarian tumorsBilateral ovarian massesFOXL2 mutation testingSolid ovarian tumorSignet ring cell morphologySmooth muscle actinUnderlying genetic abnormalitiesPCR-Sanger sequencingNuclear beta-catenin expressionHandful of casesHeterogenous pathogenesisAbdominal distentionRectal bleedingTotal hysterectomyStromal neoplasmsOvarian massesOvarian tumorsCase reportBeta-catenin expressionSequencing analysisMuscle actinTumorsFrequent loss of mutation-specific mismatch repair protein expression in nonneoplastic endometrium of Lynch syndrome patients
Wong S, Hui P, Buza N. Frequent loss of mutation-specific mismatch repair protein expression in nonneoplastic endometrium of Lynch syndrome patients. Modern Pathology 2020, 33: 1172-1181. PMID: 31932681, DOI: 10.1038/s41379-020-0455-x.Peer-Reviewed Original ResearchConceptsLynch syndrome patientsLynch syndromeMMR protein expressionSporadic endometrial carcinomasSyndrome patientsEndometrial cancerEndometrial glandsEndometrial carcinomaProtein expressionLynch syndrome-associated endometrial cancerGermline mutationsMismatch repair protein expressionMMR protein immunohistochemistryEndometrial cancer patientsNonneoplastic endometriumBenign endometrial tissuesMicrosatellite instability testingMMR protein lossGermline mutation analysisDNA mismatch repair genesRepair protein expressionMismatch repair genesBackground endometriumMMR immunohistochemistryProphylactic hysterectomy
2019
HER2 testing of gynecologic carcinosarcomas: tumor stratification for potential targeted therapy
Rottmann D, Snir OL, Wu X, Wong S, Hui P, Santin AD, Buza N. HER2 testing of gynecologic carcinosarcomas: tumor stratification for potential targeted therapy. Modern Pathology 2019, 33: 118-127. PMID: 31477811, DOI: 10.1038/s41379-019-0358-x.Peer-Reviewed Original ResearchConceptsEndometrial serous carcinomaHER2-positive tumorsSerous carcinomaSarcoma componentHER2 statusGynecologic carcinosarcomaHER2 expression/amplificationRecent phase II clinical trialPhase II clinical trialCarboplatin-paclitaxel chemotherapyEquivocal HER2 expressionProgression-free survivalAppropriate patient selectionExpression/amplificationFemale genital tractMembranous staining patternHER2 protein expressionHER2 immunohistochemical scoresUterine primaryDismal prognosisPatient selectionCarcinoma componentMixed carcinomasHER2 expressionClinical trialsPrognostic markers for immunodeficiency-associated primary central nervous system lymphoma
Kaulen LD, Galluzzo D, Hui P, Barbiero F, Karschnia P, Huttner A, Fulbright R, Baehring JM. Prognostic markers for immunodeficiency-associated primary central nervous system lymphoma. Journal Of Neuro-Oncology 2019, 144: 107-115. PMID: 31190317, DOI: 10.1007/s11060-019-03208-w.Peer-Reviewed Original ResearchConceptsPrimary central nervous system lymphomaDiffusion-weighted imaging patternsMagnetic resonance imagingCentral nervous system lymphomaNervous system lymphomaSystem lymphomaPeripheral enhancementDWI patternsPCNSL casesImaging featuresPrognostic markerHuman immunodeficiency virus (HIV) infectionKaplan-Meier survival analysisDiffuse large B-cell lymphomaYale-New Haven HospitalLarge B-cell lymphomaMedian overall survivalImmunodeficiency virus infectionPredictors of survivalSolid organ transplantationImmunoglobulin heavy chain gene rearrangementPeripheral contrast enhancementLog-rank testMajor risk factorHeavy chain gene rearrangementPaternal 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-6MicroRNA signatures discriminate between uterine and ovarian serous carcinomas
Hui P, Gysler SM, Uduman M, Togun TA, Prado DE, Brambs CE, Nallur S, Schwartz PE, Rutherford TJ, Santin AD, Weidhaas JB, Ratner ES. MicroRNA signatures discriminate between uterine and ovarian serous carcinomas. Human Pathology 2018, 76: 133-140. PMID: 29518404, DOI: 10.1016/j.humpath.2018.02.019.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAged, 80 and overBiomarkers, TumorCarcinomaDiagnosis, DifferentialFemaleGene Expression ProfilingGenetic Predisposition to DiseaseHumansMicroRNAsMiddle AgedNeoplasm GradingNeoplasms, Cystic, Mucinous, and SerousOligonucleotide Array Sequence AnalysisOvarian NeoplasmsPhenotypePredictive Value of TestsReproducibility of ResultsRetrospective StudiesTranscriptomeUterine NeoplasmsConceptsHigh-grade serous carcinomaOvarian serous carcinomaSerous carcinomaOvarian malignancyPrimary ovarian high-grade serous carcinomaOvarian high-grade serous carcinomaMiRNA signatureEndometrial serous carcinomaHigh-grade ovarian serous carcinomaUterine serous carcinomaEndometrial counterpartOvarian primaryTaqMan Low Density Array technologySynchronous primariesEndometrial cancerMetastatic tumorsCarcinomaPrimary siteSignature panelPathological determinationMicroRNA signatureSignificant discriminatory powerCancer cellsMalignancyLineage characteristics
2017
Hormone producing gynecological tumors: pathologic entities and clinical significance
Boto AN, Hui P. Hormone producing gynecological tumors: pathologic entities and clinical significance. Expert Review Of Endocrinology & Metabolism 2017, 13: 9-24. PMID: 30063444, DOI: 10.1080/17446651.2018.1411799.Peer-Reviewed Original ResearchConceptsHormonal biomarkersGynecologic tumorsGynecologic neoplasmsOverproduction of hormonesAbnormal clinical manifestationsPatient treatment optionsGynecological organsNormal physiological settingsSerum hormonesClinical manifestationsGynecological tumorsTreatment optionsAbnormal elevationPathologic entityPathological diagnosisTherapeutic responseDisease progressionClinical significanceClinical utilityTreatment efficacyClinical monitoringHormonal productionHormonal productsTumorsHormoneImmunohistochemistry in Gynecologic Pathology: An Example-Based Practical Update
Buza N, Hui P. Immunohistochemistry in Gynecologic Pathology: An Example-Based Practical Update. Archives Of Pathology & Laboratory Medicine 2017, 141: 1052-1071. PMID: 28745567, DOI: 10.5858/arpa.2016-0541-ra.Peer-Reviewed Original ResearchComprehensive Analysis of PAX8 Expression in Epithelial Malignancies of the Uterine Cervix
Wong S, Hong W, Hui P, Buza N. Comprehensive Analysis of PAX8 Expression in Epithelial Malignancies of the Uterine Cervix. International Journal Of Gynecological Pathology 2017, 36: 101-106. PMID: 27362905, DOI: 10.1097/pgp.0000000000000309.Peer-Reviewed Original ResearchMeSH KeywordsBiomarkers, TumorFemaleHumansImmunohistochemistryPAX8 Transcription FactorTissue Array AnalysisUterine Cervical NeoplasmsConceptsSquamous cell carcinomaEpithelial malignanciesPAX8 expressionAdenosquamous carcinomaMajority of SCCsCervical squamous cell carcinomaPossible primary sitesEndometrioid-type tumorsWeak nuclear stainingTissue microarray slidesGynecologic malignanciesEndometrial adenocarcinomaEndometrioid adenocarcinomaMetastatic lesionsEndometrial carcinomaMetastatic sitesUterine cervixCell carcinomaCervical tumorsEndocervical adenocarcinomaDifferential diagnosisPrimary siteAdenocarcinomaCarcinomaMalignancyPathologic Characteristics, Natural History, and Prognostic Implications of BRAFV600E Mutation in Pediatric Papillary Thyroid Carcinoma
Hardee S, Prasad ML, Hui P, Dinauer CA, Morotti RA. Pathologic Characteristics, Natural History, and Prognostic Implications of BRAFV600E Mutation in Pediatric Papillary Thyroid Carcinoma. Pediatric And Developmental Pathology 2017, 20: 206-212. PMID: 28521635, DOI: 10.1177/1093526616689628.Peer-Reviewed Original ResearchConceptsPapillary thyroid cancerPediatric papillary thyroid cancerPrognostic implicationsPediatric papillary thyroid carcinomaNegative casesBRAF-negative casesBRAF-negative patientsBRAF-positive casesTertiary medical centerAggressive clinical coursePapillary thyroid carcinomaSurgical pathology diagnosisCommon genetic aberrationsNegative patientsAggressive courseClinical coursePathologic characteristicsCase seriesClinical outcomesRetrospective reviewAggressive featuresPediatric casesRecurrence rateRetrospective studySingle institution
2015
Grading of atypia in genital skin lesions: routine microscopic evaluation and use of p16 immunostaining
Ezaldein H, Lott JP, McNiff JM, Hui P, Buza N, Ko CJ. Grading of atypia in genital skin lesions: routine microscopic evaluation and use of p16 immunostaining. Journal Of Cutaneous Pathology 2015, 42: 519-526. PMID: 25951050, DOI: 10.1111/cup.12525.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAged, 80 and overBiomarkers, TumorCross-Sectional StudiesCyclin-Dependent Kinase Inhibitor p16FemaleGenitalia, FemaleHumansImmunohistochemistryMaleMiddle AgedNeoplasm ProteinsObserver VariationPapillomavirus InfectionsSensitivity and SpecificitySkin DiseasesSquamous Intraepithelial Lesions of the CervixUterine Cervical NeoplasmsConceptsGenital skin lesionsHigh-grade squamous intraepithelial lesionsLow-grade squamous intraepithelial lesionsSquamous intraepithelial lesionsP16 immunostainingSkin lesionsDiagnostic agreementIntraepithelial lesionsUseful adjunctive markerHigh-grade dysplasiaCross-sectional studyRoutine microscopic evaluationDegree of atypiaAdjunctive markerInter-observer agreementPrimary outcomeCervical lesionsHistopathologic assessmentHistopathologic evaluationConsensus diagnosisReactive atypiaEosin stainingOriginal diagnosisAtypiaLesionsHeterozygous bone marrow in a homozygous mature ovarian teratoma: a challenge to the germ cell theory or incidental somatic heterotopia?
Munday WR, Hui P. Heterozygous bone marrow in a homozygous mature ovarian teratoma: a challenge to the germ cell theory or incidental somatic heterotopia? Journal Of Clinical Pathology 2015, 68: 666. PMID: 25979987, DOI: 10.1136/jclinpath-2015-202959.Peer-Reviewed Original ResearchCraniopharyngioma arising in a Rathke's cleft cyst: case report.
Alomari AK, Kelley BJ, Damisah E, Marks A, Hui P, DiLuna M, Vortmeyer A. Craniopharyngioma arising in a Rathke's cleft cyst: case report. Journal Of Neurosurgery Pediatrics 2015, 15: 250-4. PMID: 25555112, DOI: 10.3171/2014.11.peds14370.Peer-Reviewed Original ResearchConceptsRathke's cleft cystCleft cystDecreased visual acuityFocal squamous metaplasiaHistological findingsSquamous metaplasiaVisual acuityCase reportRim enhancementSellar lesionsSerial MRIIntracranial tumorsKi-67Histological examinationBRAF mutationsYears durationSellar regionLesion typeLesionsResidual enhancementCraniopharyngiomaMolecular classificationEctodermal lesionsPatientsCysts
2013
Toward standard HER2 testing of endometrial serous carcinoma: 4-year experience at a large academic center and recommendations for clinical practice
Buza N, English DP, Santin AD, Hui P. Toward standard HER2 testing of endometrial serous carcinoma: 4-year experience at a large academic center and recommendations for clinical practice. Modern Pathology 2013, 26: 1605-1612. PMID: 23765245, DOI: 10.1038/modpathol.2013.113.Peer-Reviewed Original ResearchConceptsEndometrial serous carcinomaSerous carcinomaHER2 overexpressionEndometrial carcinomaMedical recordsImmunohistochemical scoreHER2 testingProtein expressionHER2 immunohistochemistrySignificant heterogeneityScoring systemMultiple tumor sectionsPure serous carcinomaHER2-positive casesHER2-positive tumorsScoring criteriaEndometrial carcinoma casesFDA criteriaPatients' medical recordsLarge academic centerHER2 FISH resultsHER2 protein overexpressionPromising therapeutic targetOverall concordance rateHER2 immunohistochemical scores