Abstract
BackgroundClusters of rare cylindroma or spiradenoma tumors are a recurrent clinical presentation, yet conventional genetic testing results in individuals with these tumors are frequently normal.ObjectiveTo determine if genetic mosaicism accounts for such cases.MethodsA study of 6 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.ResultsTwo patients had mosaic pathogenic CYLD variants in both the blood and 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.LimitationsThe remaining 2 patients had clinical features of mosaicism, but these cases were not solved with the assays used because of a lack of access of fresh tumor tissue.ConclusionGenetic mosaicism should be considered in patients presenting with clustered cylindromas, because this may inform genetic testing and counseling of these patients.
Highlights
Clusters of rare cylindroma or spiradenoma tumors are a recurrent clinical presentation, yet conventional genetic testing results in individuals with these tumors are frequently normal
Two patients had mosaic pathogenic CYLD variants in both the blood and 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
We reviewed 55 patients who met criteria[22] for tissue in these patients, we show the existence of diagnostic gene testing for pathogenic CYLD varipostzygotic mutations resulting in mosaicism in ants
Summary
A study of 6 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. Postzygotic mutation resulting in mosaicism may 1080;06/1059). Account for some of these unexplained cases It is suggested clinically by affected CAPSULE SUMMARY. Fresh-frozen distribution, typically clusclinical indicator of underlying genetic tissue or RNAlater-stored tered or in a linear array on mosaicism. Postzygotic mutation of history, genetic testing of skin tumors is Island, NY) was available genes affecting keratinocytes necessary. This is relevant for genetic in some cases
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