Abstract
-Germline pathogenic variants in the tumor suppressor gene CYLD are associated with multiple cutaneous cylindromas. -In a subset of CYLD pathogenic variant carriers, pulmonary cylindromas may develop. -The histopathological differentiation between benign cylindroma and adenoid cystic carcinoma may be challenging, especially with small tissue samples. -At the molecular level, evidence of MYB rearrangement can support the diagnosis of adenoid cystic carcinoma. -CYLD sequencing should be initiated in patients with pulmonary nodules and a history of dermal tumors. -Germline pathogenic variants in the tumor suppressor gene CYLD are associated with multiple cutaneous cylindromas. -In a subset of CYLD pathogenic variant carriers, pulmonary cylindromas may develop. -The histopathological differentiation between benign cylindroma and adenoid cystic carcinoma may be challenging, especially with small tissue samples. -At the molecular level, evidence of MYB rearrangement can support the diagnosis of adenoid cystic carcinoma. -CYLD sequencing should be initiated in patients with pulmonary nodules and a history of dermal tumors.
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