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Genetic Testing in CYLD Cutaneous Syndrome: An Update.
Nikoletta Nagy1,2, Anna Dubois3, Marta Szell1,2
1Department of Medical Genetics, University of Szeged, Szeged, Hungary.
The Application of Clinical Genetics
|November 8, 2021
Summary
CYLD cutaneous syndrome (CCS) encompasses inherited skin tumor syndromes caused by germline variants in the CYLD gene. Genetic testing is crucial for diagnosis, counseling, and potential future treatments.
Area of Science:
- Genetics
- Oncology
- Dermatology
Background:
- CYLD cutaneous syndrome (CCS) is an umbrella term for inherited skin adnexal tumor syndromes: Brooke-Spiegler Syndrome, familial cylindromatosis, and multiple familial trichoepitheliomas.
- These syndromes result from germline pathogenic variants in the tumor suppressor gene CYLD, inherited in an autosomal dominant pattern with variable expressivity and penetrance.
- Tumors typically emerge during puberty and accumulate throughout adulthood, affecting males and females equally.
Purpose of the Study:
- To review the clinical presentations of germline and mosaic CCS.
- To provide an overview of the CYLD pathogenic variant spectrum in CCS patients.
- To discuss current and future genetic testing approaches for CCS.
Main Methods:
- Review of clinical presentations and genetic variant data for CYLD cutaneous syndrome.
- Analysis of germline pathogenic variants, including single nucleotide variants, small insertions/deletions, large deletions, intronic variants, and inversions.
- Discussion of germline and somatic testing strategies, including tumor tissue analysis for mosaic cases.
Main Results:
- Over 100 pathogenic variants in the CYLD gene have been identified in CCS patients, predominantly leading to predicted protein truncation.
- A smaller proportion of patients exhibit large deletions, intronic variants affecting splicing, or inversions within the CYLD gene.
- Somatic testing of tumor tissue can identify recurrent pathogenic variants in mosaic CCS, informing germline testing of relatives.
Conclusions:
- Genetic testing is essential for confirming CCS diagnosis, facilitating genetic counseling, and enabling family planning options like preimplantation diagnosis.
- Understanding the CYLD variant spectrum aids in diagnosis and may identify patients eligible for future non-surgical interventions.
- Advances in genetic testing technologies are improving the diagnosis and management of CYLD cutaneous syndromes.
Keywords:
CYLD gene testing
