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 cellsMutations in KRT10 in epidermolytic acanthoma
Cheraghlou S, Atzmony L, Roy SF, McNiff JM, Choate KA. Mutations in KRT10 in epidermolytic acanthoma. Journal Of Cutaneous Pathology 2020, 47: 524-529. PMID: 32045015, PMCID: PMC7914398, DOI: 10.1111/cup.13664.Peer-Reviewed Original ResearchConceptsWhole-exome sequencingEpidermolytic acanthomaEpidermolytic hyperkeratosisHotspot mutationsCharacteristic histopathological patternEpidermolytic ichthyosisHistopathological patternsHistopathological analysisDiscovery cohortLesional tissueAdditional casesPolymerase chain reaction amplificationEpidermal degenerationChain reaction amplificationFragment length polymorphism analysisRestriction fragment length polymorphism analysisLength polymorphism analysisDermatosesIchthyosis bullosaAcanthomaKRT10Departmental archivesReaction amplificationIchthyosisPolymorphism analysis
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