Frequent and differential mutations of the CYLD gene in basal cell salivary neoplasms: linkage to tumor development and progression

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc
Miguel RitoAdel K El-Naggar

Abstract

Basal cell salivary neoplasms display similar cyto-morphologic features and are classified into adenoma and adenocarcinoma based on the presence or absence of tumor invasion at diagnosis. These neoplasms also share considerable phenotypic resemblance and co-exist with certain dermal adnexal tumors harboring the CYLD gene mutations inferring common genetic association. We sequenced the CYLD gene in both basal cell adenomas and adenocarcinomas and correlated the findings with CYLD, NF-κB, and β-catenin expression levels and clinicopathologic factors. Twenty mutations were identified and comprised of 3 synonymous and 17 non-synonymous (missense) types involving the coding exons of the CYLD gene. Mutations in exons 9-11 were identified in both adenomas and adenocarcinomas, while mutations in exons 12-20, encoding the USP domain, were exclusively found in carcinomas. Although no significant correlation between CYLD mutations and expression levels of CYLD, NF-κB, and β-catenin or clinicopathologic parameters was found, basal cell adenocarcinomas with multiple mutations showed reduction in CYLD protein expression and pursued aggressive clinical behavior. Our study revealed high incidence and sequential CYLD mutations in both basal cel...Continue Reading

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Citations

Feb 28, 2019·APMIS : Acta Pathologica, Microbiologica, Et Immunologica Scandinavica·Simon AndreasenIrene Wessel
Aug 24, 2018·Scientific Reports·Hua LiuXiaoming Dai
Sep 7, 2020·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·Erik A WilliamsMark C Mochel
May 29, 2020·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·Erik A WilliamsMark C Mochel
Feb 3, 2021·Surgical Pathology Clinics·Robert A Robinson
Jan 7, 2021·Advances in Anatomic Pathology·M Hasan Toper, Sulen Sarioglu
Feb 26, 2020·American Journal of Otolaryngology·Claudia N GutierrezJeffrey R Janus
Jul 15, 2020·Journal of the American Society of Cytopathology : JASC·J Stephen Nix, Lisa M Rooper
Jan 15, 2022·Virchows Archiv : an International Journal of Pathology·Henrik HellquistAlfio Ferlito

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Methods Mentioned

BETA
deubiquitination
electrophoresis
PCR

Software Mentioned

ABI

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