2020
Clues to primary vismodegib resistance lie in histology and genetics
Sun Q, Atzmony L, Zaki T, Peng A, Sugarman J, Choate KA. Clues to primary vismodegib resistance lie in histology and genetics. Journal Of Clinical Pathology 2020, 73: 678-680. PMID: 32217615, PMCID: PMC7513245, DOI: 10.1136/jclinpath-2020-206448.Peer-Reviewed Original ResearchConceptsBasal cell carcinomaCommon human malignant neoplasmInfundibulocystic basal cell carcinomaBasal cell nevus syndromeHuman malignant neoplasmsWhole-exome sequencingClinical featuresBCC subtypesCell carcinomaMalignant neoplasmsHistological resultsHedgehog pathwayBiopsyVismodegibCarcinomaNeoplasmsSyndromeHistologyLesionsSubtypesMutationsBlood
2019
Second-Hit, Postzygotic PMVK and MVD Mutations in Linear Porokeratosis
Atzmony L, Khan HM, Lim YH, Paller AS, Levinsohn JL, Holland KE, Mirza FN, Yin E, Ko CJ, Leventhal JS, Choate KA. Second-Hit, Postzygotic PMVK and MVD Mutations in Linear Porokeratosis. JAMA Dermatology 2019, 155: 548-555. PMID: 30942823, PMCID: PMC6506890, DOI: 10.1001/jamadermatol.2019.0016.Peer-Reviewed Original ResearchConceptsLinear porokeratosisLesional skinWhole-exome sequencingAffected tissue samplesSomatic copy-neutral lossAcademic medical centerLines of BlaschkoSomatic mutationsT mutationNovel germline mutationPostzygotic somatic mutationsNovel somatic mutationsCoronoid lamellaBlood/saliva samplesGermline splice site mutationHistologic diagnosisHistologic examinationKeratotic papulesMedical CenterMAIN OUTCOMEAffected skinTherapeutic interventionsPorokeratosisWhorled configurationCopy-neutral loss