FGFR3 and PIK3CA mutations in stucco keratosis and dermatosis papulosa nigra
Summary Background Stucco keratosis (STK) and dermatosis papulosa nigra (DPN) are referred to as variants of seborrhoeic keratosis. However, the genetic alterations involved in the pathogenesis of these benign tumours are unknown. Objectives Because FGFR3 and PIK3CA mutations have been reported to...
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Published in | British journal of dermatology (1951) Vol. 162; no. 3; pp. 508 - 512 |
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Main Authors | , , , |
Format | Journal Article |
Language | English |
Published |
Oxford, UK
Blackwell Publishing Ltd
01.03.2010
Wiley-Blackwell |
Subjects | |
Online Access | Get full text |
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Summary: | Summary
Background Stucco keratosis (STK) and dermatosis papulosa nigra (DPN) are referred to as variants of seborrhoeic keratosis. However, the genetic alterations involved in the pathogenesis of these benign tumours are unknown.
Objectives Because FGFR3 and PIK3CA mutations have been reported to be involved in the pathogenesis of seborrhoeic keratosis, we analysed whether these mutations are also present in STK and DPN.
Methods A SNaPshot® multiplex assay was used for analysis of 11 previously described FGFR3 hotspot mutations. PIK3CA mutations were analysed by a SNaPshot® assay covering five PIK3CA hotspot mutations.
Results Five STK and two DPN samples were analysed. Three of five STK samples revealed a PIK3CA mutation (E542K, E545K), but no FGFR3 mutation was found. In contrast, both DPN samples harboured an FGFR3 mutation (R248C, S249C) but no PIK3CA mutation. Control tissues available for three samples did not show PIK3CA or FGFR3 mutations, excluding germline mutations and indicating a strong genotype–phenotype correlation between the mutation and the lesion.
Conclusions These results indicate that FGFR3 and PIK3CA mutations are involved in the pathogenesis of STK and DPN. The molecular genetic findings furthermore support the concept that both skin lesions are specific variants of seborrhoeic keratosis, sharing a common genetic background. |
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Bibliography: | istex:F5F9111FB8A7AA7C334ABAAA53DB6A73C81D992C ArticleID:BJD9488 ark:/67375/WNG-44MNHDTC-H Conflicts of interest None declared. ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 |
ISSN: | 0007-0963 1365-2133 |
DOI: | 10.1111/j.1365-2133.2009.09488.x |