Genetics

Cytogenetics

Chromosomal gains at 9p21.1-pter, 18q21.1-q22.3, and 22q11.23-q13.31 as well as losses at 2q24.2 and 4q25-q27 have been described {2612}. The gain at 22q12.3-q13.1 is described as also common in adenoid cystic carcinoma.

Molecular genetics

A study of two familial cases and two sporadic basaloid tumours for alterations at the 16q12-13 regions showed high frequency (80%) of LOH in both sporadic and familial basaloid tumours and dermal cylindromas of the familial cases.

The minimally deleted region contained the CYLD gene. This study indicates that these tumours share the same alterations as dermal cylindromas and implicates the CYLD gene in their development {437}.

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