Hafner Christian, Hartmann Arndt, Real Francisco X, Hofstaedter Ferdinand, Landthaler Michael, Vogt Thomas
Department of Dermatology, University of Regensburg, Regensburg, Germany.
J Invest Dermatol. 2007 Aug;127(8):1883-5. doi: 10.1038/sj.jid.5700804. Epub 2007 Mar 29.
Somatic FGFR3 mutations have recently been identified in seborrheic keratoses (SK). Affected individuals often show a large number of SK, but their spectrum of FGFR3 mutations has not been investigated yet. We analyzed 78 SK of four patients using a SNaPshot multiplex assay. FGFR3 mutations were detected in 46 of 78 SK (59%). The mutation rates of the patients ranged from 26 to 89%. Each patient showed at least four different mutated loci. FGFR3 mutations appear to be common genetic alterations in multiple SK with a varying interindividual mutation frequency but without specific intraindividual hot spots.
近期在脂溢性角化病(SK)中发现了体细胞FGFR3突变。受影响个体通常有大量SK,但尚未对其FGFR3突变谱进行研究。我们使用SNaPshot多重检测法分析了4例患者的78个SK。在78个SK中的46个(59%)检测到FGFR3突变。患者的突变率在26%至89%之间。每位患者至少有四个不同的突变位点。FGFR3突变似乎是多个SK中常见的基因改变,个体间突变频率不同,但个体内无特定热点。