2021
Genotyping diagnosis of gestational trophoblastic disease: frontiers in precision medicine
Buza N, Hui P. Genotyping diagnosis of gestational trophoblastic disease: frontiers in precision medicine. Modern Pathology 2021, 34: 1658-1672. PMID: 34088998, DOI: 10.1038/s41379-021-00831-9.Peer-Reviewed Original ResearchConceptsGestational trophoblastic diseaseTrophoblastic diseaseGestational trophoblastic tumorsGestational trophoblastic neoplasiaRoutine diagnostic workupDNA genotypingSignificant clinical relevancePowerful ancillary toolFIGO/Genetic zygosityGestational eventIndex gestationTrophoblastic tumorTrophoblastic neoplasiaGestational choriocarcinomaPrognostic stratificationDiagnostic workupPrognostic assessmentClinical relevanceClinical practiceGestational originMolecular diagnostic capabilitiesPatient careSporadic hydatidiformCopy number alterations
2020
Lack of genetic homozygosity in prepubertal teratomas: divergent pathogenesis distinct from that of teratomas in adolescents
Snir OL, DeJoseph M, Wu X, Rottmann D, Wong S, Buza N, Hui P. Lack of genetic homozygosity in prepubertal teratomas: divergent pathogenesis distinct from that of teratomas in adolescents. Laboratory Investigation 2020, 100: 1447-1454. PMID: 32694569, DOI: 10.1038/s41374-020-0468-6.Peer-Reviewed Original ResearchConceptsOvarian teratomaPatient ageImmature teratomaTesticular teratomaMature teratomaSacrococcygeal teratomaMixed germ cell tumorGerm cell tumorsMature ovarian teratomaChildren 18 yearsDivergent pathogenesisGenetic zygosityPrepubertal teratomasCell tumorsGonadal teratomaTeratomaGenetic homozygosityNormal tissuesPatientsGerm cell developmentSacrococcygealAgeCell developmentDepartmental archivesGerm cells
2017
Frequent homozygosity in both mature and immature ovarian teratomas: a shared genetic basis of tumorigenesis
Snir OL, DeJoseph M, Wong S, Buza N, Hui P. Frequent homozygosity in both mature and immature ovarian teratomas: a shared genetic basis of tumorigenesis. Modern Pathology 2017, 30: 1467-1475. PMID: 28664933, DOI: 10.1038/modpathol.2017.66.Peer-Reviewed Original ResearchConceptsMixed germ cell tumorGerm cell tumorsPure immature teratomaImmature teratomaCell tumorsMature teratomaGenetic zygosityMixed ovarian germ cell tumorOvarian germ cell tumorsOvarian immature teratomaImmature ovarian teratomaDifferent pathogenetic pathwaysMature cystic teratomaImmature teratoma componentsDifferent biological behaviorTeratoma componentsRate of homozygosityCystic teratomaOvarian teratomaTumor recurrenceCommon cellular originPathogenetic pathwaysGrade 2TumorsTeratoma
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