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Metastatic malignant cylindroma arising on a background of digenic inheritance of BRCA2 and CYLD pathogenic variants targeted with PARP inhibition

4 Feb 2025

Abstract excerpt

BACKGROUND: CYLD cutaneous syndrome (CCS) is caused by germline heterozygous pathogenic variants in CYLD and results in the progressive formation of cylindromas, spiradenomas or trichoepitheliomas. Malignant cylindroma is a rare skin adnexal tumour occurring in CCS, which can metastasize with lethal outcomes and has limited genomic characterization. BRCA2 loss in CCS is not described and may modulate the...

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PMID: 39908333
DOI: 10.1093/ced/llaf064

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