Cylindroma in a Young Woman with a Germline Checkpoint Kinase 2 Gene Mutation Case Report
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Keywords
Cylindroma, Checkpoint Kinase 2 (CHEK2 ) mutation, MYB
Abstract
A cylindroma is a benign, slow-growing sweat gland neoplasm that tends to occur on the face or scalp. Cylindromas are often multiple in association with an underlying genetic abnormality such as the germline CYLD mutation seen in Brooke-Spiegler syndrome. Sporadic cylindromas are rare, tend to effect older individuals, and have been associated with MYB overexpression. We present a case report of a cylindroma developing in a young female patient with a known germline Checkpoint Kinase 2 (CHEK2) mutation. We hypothesize that her CHEK2 mutation resulted in cylindroma formation by way of CHEK2’s downstream effects on p53 and MYB.
References
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