We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Frequent activating HRAS mutations in trichilemmoma.
- Authors
Tsai, J.‐H.; Huang, W.‐C.; Jhuang, J.‐Y.; Jeng, Y.‐M.; Cheng, M.‐L.; Chiu, H.‐Y.; Kuo, K.‐T.; Liau, J.‐Y.
- Abstract
Background Trichilemmoma is a benign follicular epithelial tumour exhibiting outer root sheath differentiation. It is associated with Cowden syndrome and naevus sebaceus ( NS), but the pathogenesis of sporadic tumours is poorly understood. Recently, NS was found to be caused by postzygotic HRAS or KRAS mutations. Objectives We sought to determine whether NS-related and NS-unrelated trichilemmomas harbour RAS mutations. Methods Formalin-fixed and paraffin-embedded blocks of 12 NS-related and 15 NS-unrelated trichilemmomas from 26 individuals were retrieved and analysed to determine the presence of mutations in exons 1 and 2 of the HRAS, KRAS and NRAS genes by polymerase chain reaction and direct sequencing. Mutational hotspots of the FGFR3 and PIK3 CA genes were also analysed for NS-unrelated cases. Results Among the 27 cases, mutually exclusive HRAS c.37G>C and c.182A>G mutations were observed in 17 and three tumours, respectively. Of the 12 NS-related tumours, 11 (92%) harboured the HRAS c.37G>C substitution. Of the 15 sporadic tumours, nine (60%) harboured HRAS mutations, including six c.37G>C and three c.182A>G. An HRAS c.182A>G mutation was observed only in sporadic tumours. No mutations were observed in the other genes that were tested. Conclusions The high frequency of HRAS activating mutations, including the c.182A>G substitution, which was rather rare in NS, suggests that most trichilemmomas are authentic neoplasms.
- Subjects
EPITHELIAL cell tumors; RAS oncogenes; GENETIC mutation; EXONS (Genetics); POLYMERASE chain reaction
- Publication
British Journal of Dermatology, 2014, Vol 171, Issue 5, p1073
- ISSN
0007-0963
- Publication type
Article
- DOI
10.1111/bjd.13143