PT - JOURNAL ARTICLE AU - Florian Grabellus AU - Karl Worm AU - Sien-Yi Sheu AU - Winfried Siffert AU - Kurt W Schmid AU - Hagen S Bachmann TI - The prevalence of the <em>c-kit</em> exon 10 variant, M541L, in aggressive fibromatosis does not differ from the general population AID - 10.1136/jcp.2011.090498 DP - 2011 Nov 01 TA - Journal of Clinical Pathology PG - 1021--1024 VI - 64 IP - 11 4099 - http://jcp.bmj.com/content/64/11/1021.short 4100 - http://jcp.bmj.com/content/64/11/1021.full SO - J Clin Pathol2011 Nov 01; 64 AB - Background The frequency of the c-kit exon 10 variant, M541L, (c.1621 A&gt;C) in aggressive fibromatosis (AF) was recently determined to be 2.5-fold higher than in healthy controls. It was thus hypothesised that M541L could be associated with the development of AF.Methods 42 cases of sporadic AF were investigated for c-kit exon 10 alterations, by traditional sequencing. Subsequently, the AF cases and 126 healthy volunteers were screened for the M541L by pyrosequencing.Results Genotype frequency of M541L in AF was 16.7% (allele frequencies: A, 0.92 and C, 0.08), which did not differ from the control group. Moreover the M541L variant was found to be not tumour specific.Conclusions The result classifies the M541L variant of c-kit exon 10 as a single nucleotide polymorphism. Because its prevalence does not differ between the AF and general populations, an association with AF tumourigenesis is unlikely.