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Inherited cylindromas: lessons from a rare tumour
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Journal Article
Inherited cylindromas: lessons from a rare tumour
2015
Overview
Cylindroma is a rare skin tumour that is inherited in several skin-tumour syndromes caused by germline mutations in the tumour suppressor gene, CYLD. In this Review, we provide insight into the clinical features of patients who develop multiple cylindromas and other related tumours. The CYLD protein is also dysfunctional in various sporadic cancers and we discuss how such dysfunction relates to the role of CYLD in regulating key cellular pathways. Clinical management of patients with germline CYLD mutations is challenging and we discuss genetic counselling and surgical interventions. Finally, we discuss how the study of these rare syndromes might provide insights into understanding more common diseases.
Publisher
Elsevier Ltd,Elsevier Limited
Subject
/ Carcinoma, Adenoid Cystic - genetics
/ Carcinoma, Adenoid Cystic - pathology
/ Carcinoma, Adenoid Cystic - surgery
/ Deubiquitinating Enzyme CYLD
/ Females
/ Genes
/ Hematology, Oncology and Palliative Medicine
/ Humans
/ Mutation
/ Patients
/ Studies
/ Tumor Suppressor Proteins - genetics
/ Tumors
