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Lookup NU author(s): Dr Majid Arefi, Dr Valerie Wilson, Dr Siobhan Muthiah, Dr Simon Zwolinski, Dr Dalvir Bajwa, Dr Paul Brennan, Dr David Bourn, Professor Sir John BurnORCiD, Dr Mauro Santibanez Koref, Professor Neil RajanORCiD
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
Background: Clusters of rare cylindroma or spiradenoma tumors are a recurrent clinical presentation, yet conventional genetic testing in these individuals is frequently normal. Objective: To determine if genetic mosaicism accounts for such cases. Methods: A study of six cases from a series of 55 patients who met criteria for diagnostic gene testing for pathogenic CYLD variants over a 5-year period (2012-2017) was performed. A novel genetic assay was used to study DNA from peripheral blood leukocytes, and where possible, matched skin and tumor tissue. Results: Two patients had mosaic pathogenic CYLD variants in both blood and the skin. One of these patients transmitted a pathogenic variant to her daughter, and we report the novel phenotype of a contiguous gene deletion syndrome involving CYLD. Two patients had recurrent pathogenic variants in skin tumors from a single cluster, but none detectable in the blood. Limitations: The remaining two cases had clinical features of mosaicism, but were not solved using the assays employed, due to the lack of access of fresh tumor tissue. Conclusion: Genetic mosaicism should be considered in patients presenting with clustered cylindromas as this may inform genetic testing and counselling of these patients.
Author(s): Arefi M, Wilson V, Muthiah S, Zwolinski S, Bajwa D, Brennan P, Blasdale K, Bourn D, Burn J, Santibanez-Koref M, Rajan N
Publication type: Article
Publication status: Published
Journal: Journal of American Academy of Dermatology
Year: 2019
Volume: 81
Issue: 6
Pages: 1300-1307
Print publication date: 01/12/2019
Online publication date: 11/05/2019
Acceptance date: 07/05/2019
Date deposited: 18/07/2019
ISSN (print): 0190-9622
Publisher: Elsevier Inc.
URL: https://doi.org/10.1016/j.jaad.2019.05.021
DOI: 10.1016/j.jaad.2019.05.021
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