2022
Segmental basaloid follicular hamartomas derive from a post‐zygotic SMO p.L412F pathogenic variant and express hair follicle development‐related proteins in a pattern that distinguish them from basal cell carcinomas
Atzmony L, Ugwu N, Bercovitch LG, Robinson‐Bostom L, Ko CJ, Myung P, Choate KA. Segmental basaloid follicular hamartomas derive from a post‐zygotic SMO p.L412F pathogenic variant and express hair follicle development‐related proteins in a pattern that distinguish them from basal cell carcinomas. American Journal Of Medical Genetics Part A 2022, 188: 3525-3530. PMID: 35972041, PMCID: PMC9669121, DOI: 10.1002/ajmg.a.62951.Peer-Reviewed Original ResearchConceptsBasal cell carcinomaCell carcinomaFollicular hamartomaProliferation indexBasaloid skin tumorsSporadic basal cell carcinomasBasaloid follicular hamartomaKi-67 expressionLow proliferation indexCentral nervous systemWhole-exome sequencingSystemic involvementExpression of hedgehogMultiple lesionsSkin tumorsWnt/beta-catenin pathwayBasaloid lesionsNervous systemVariable involvementPathogenic variantsSegmental distributionPost-zygotic mutational eventSOX-9 expressionNormal tissuesExome sequencing
2020
Cutaneous Involvement in Plasma Cell Myeloma
Panse G, Subtil A, McNiff JM, Glusac EJ, Ko CJ, Galan A, Myung P, Xu ML. Cutaneous Involvement in Plasma Cell Myeloma. American Journal Of Clinical Pathology 2020, 155: 106-116. PMID: 32885235, DOI: 10.1093/ajcp/aqaa122.Peer-Reviewed Original ResearchConceptsPlasma cell myelomaCutaneous involvementSquamous cell carcinomaAmyloid depositionCell carcinomaCell myelomaCases of PCMBone marrow involvementCyclin D1 immunoreactivityDisease-related deathLight chain restrictionCCND1 gene rearrangementMarrow involvementSkin involvementClinicopathologic featuresCytomorphologic spectrumCutaneous lesionsPoor outcomeCommon immunophenotypeChain restrictionClinical dataCytogenetic findingsOlder individualsGene rearrangementsMyeloma