title: The prevalence of the c-kit exon 10 variant, M541L, in aggressive fibromatosis does not differ from the general population.
abstract: BACKGROUND
  The frequency of the c-kit exon 10 variant, M541L, (c.1621 A>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.
authors.affiliation: Institute of Pathology and Neuropathology, University Hospital Essen, Essen, Germany. florian.grabellus@uk-essen.de
authors.forename: Florian
authors.initials: F
authors.lastname: Grabellus
authors.forename: Karl
authors.initials: K
authors.lastname: Worm
authors.forename: Sien-Yi
authors.initials: SY
authors.lastname: Sheu
authors.forename: Winfried
authors.initials: W
authors.lastname: Siffert
authors.forename: Kurt W
authors.initials: KW
authors.lastname: Schmid
authors.forename: Hagen S
authors.initials: HS
authors.lastname: Bachmann
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D005091:Exons / Q000235:genetics*; D005260:Female; D018222:Desmoid Tumors / Q000235:genetics*; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D019009:Proto-Oncogene Proteins c-kit / Q000737:chemistry / Q000235:genetics*; D020539:Sequence Analysis, Protein; D055815:Young Adult
chemical_list: D019009:Proto-Oncogene Proteins c-kit