@article {747, title = {Mutations in KRT10 in epidermolytic acanthoma.}, journal = {J Cutan Pathol}, volume = {47}, year = {2020}, month = {2020 Jun}, pages = {524-529}, abstract = {

BACKGROUND: Epidermolytic acanthoma (EA) is a rare acquired lesion demonstrating a characteristic histopathological pattern of epidermal degeneration referred to as epidermolytic hyperkeratosis (EHK). On histopathological analysis, EA appears nearly identical to inherited EHK-associated dermatoses such as epidermolytic ichthyosis and ichthyosis bullosa of Siemens. While it has been speculated that EA is caused by mutations in KRT10, KRT1, or KRT2 found in these inherited dermatoses, none have yet been identified. Herein, we aim to identify the contributions of keratin mutations to EA.

METHODS: Using genomic DNA extracted from paraffin-embedded samples from departmental archives, we evaluated a discovery cohort using whole-exome sequencing (WES) and assessed remaining samples using Sanger sequencing screening and restriction fragment length polymorphism (RFLP) analysis.

RESULTS: DNA from 16/20 cases in our sample was of sufficient quality for polymerase chain reaction amplification. WES of genomic DNA from lesional tissue revealed KRT10 c.466C > T, p.Arg156Cys mutations in 2/3 samples submitted for examination. RFLP analysis of these samples as well as eight additional samples confirmed the mutations identified via WES and identified four additional cases with Arg156 mutations. In sum, 6/11 screened cases showed hotspot mutation in KRT10.

CONCLUSIONS: Hotspot mutations in the Arg156 position of KRT10, known to cause epidermolytic ichthyosis, also underlie EA.

}, keywords = {Acanthoma, Adult, Aged, Aged, 80 and over, Female, Genomics, Humans, Hyperkeratosis, Epidermolytic, Ichthyosis Bullosa of Siemens, Keratin-10, Keratins, Male, Middle Aged, Mutation, Skin Neoplasms, Whole Exome Sequencing}, issn = {1600-0560}, doi = {10.1111/cup.13664}, author = {Cheraghlou, Shayan and Atzmony, Lihi and Roy, Simon F and McNiff, Jennifer M and Choate, Keith A} } @article {639, title = {Keratoacanthoma Shares Driver Mutations with Cutaneous Squamous Cell Carcinoma.}, journal = {J Invest Dermatol}, volume = {136}, year = {2016}, month = {2016 08}, pages = {1737-1741}, keywords = {Aged, Aged, 80 and over, Biomarkers, Tumor, Biopsy, Carcinoma, Squamous Cell, Cohort Studies, Diagnosis, Differential, Exome, Female, Humans, Keratoacanthoma, Loss of Heterozygosity, Male, Middle Aged, Mutation, Polymorphism, Single Nucleotide, Skin, Skin Neoplasms, Whole Exome Sequencing}, issn = {1523-1747}, doi = {10.1016/j.jid.2016.04.002}, author = {Lim, Young H and Fisher, Jonathan M and Bosenberg, Marcus W and Choate, Keith A and Ko, Christine J} } @article {318, title = {Whole-exome sequencing reveals somatic mutations in HRAS and KRAS, which cause nevus sebaceus.}, journal = {J Invest Dermatol}, volume = {133}, year = {2013}, month = {2013 Mar}, pages = {827-830}, keywords = {Adolescent, Adult, Amino Acid Sequence, Biopsy, Child, Child, Preschool, Cohort Studies, Epidermis, Exome, Humans, Infant, Middle Aged, Molecular Sequence Data, Mutation, Nevus, Sebaceous of Jadassohn, Proto-Oncogene Proteins, Proto-Oncogene Proteins p21(ras), ras Proteins, Sequence Analysis, DNA, Young Adult}, issn = {1523-1747}, doi = {10.1038/jid.2012.379}, author = {Levinsohn, Jonathan L and Tian, Li C and Boyden, Lynn M and McNiff, Jennifer M and Narayan, Deepak and Loring, Erin S and Yun, Duri and Sugarman, Jeffrey L and Overton, John D and Mane, Shrikant M and Lifton, Richard P and Paller, Amy S and Wagner, Annette M and Antaya, Richard J and Choate, Keith A} }