title: Identification of the M541L sequence variation of the transmembrane KIT domain in Merkel cell carcinoma.
abstract: BACKGROUND
  Merkel cell carcinoma (MCC) is an aggressive KIT-positive cutaneous tumor. KIT mutations are considered to play a key role in the pathogenesis of various neoplasms, but have not been found so far in MCC. The aim of the present study was therefore to investigate the presence of KIT mutations in MCC.
  
  
  METHODS
  The entire coding region of KIT in the MCC cell line MCC-1 was sequenced. KIT exon 10 was amplified from archival paraffin-embedded MCC specimens by PCR and sequenced.
  
  
  RESULTS
  Exon 10 M541L KIT sequence variation, which confers increased sensitivity to KIT ligand stem cell factor, was detected in the MCC-1 cell line. Sequencing of KIT exon 10 in six archival MCC specimens revealed the wild-type sequence.
  
  
  CONCLUSIONS
  The presence of the M541L KIT variation in MCC warrants further studies for its role in the pathogenesis of this tumor.
authors.affiliation: Department of Dermatology, Faculty of Medicine, University of Crete, GR-71003 Heraklion, Greece. krasagak@med.uoc.gr
authors.forename: Konstantin
authors.initials: K
authors.lastname: Krasagakis
authors.forename: Maria
authors.initials: M
authors.lastname: Metaxari
authors.forename: Maria
authors.initials: M
authors.lastname: Zervou
authors.forename: Eustathios N
authors.initials: EN
authors.lastname: Stathopoulos
authors.forename: Juergen
authors.initials: J
authors.lastname: Eberle
authors.forename: Jean
authors.initials: J
authors.lastname: Kanitakis
authors.forename: Vassilis
authors.initials: V
authors.lastname: Georgoulias
authors.forename: Sabine
authors.initials: S
authors.lastname: Krüger-Krasagakis
authors.forename: Nektarios
authors.initials: N
authors.lastname: Tavernarakis
authors.forename: Androniki D
authors.initials: AD
authors.lastname: Tosca
mesh_terms: D019943:Amino Acid Substitution / Q000235:genetics*; D001483:Base Sequence; D001706:Biopsy; D015266:Carcinoma, Merkel Cell / Q000235:genetics* / Q000473:pathology; D045744:Cell Line, Tumor; D002462:Cell Membrane / Q000378:metabolism*; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D017434:Protein Structure, Tertiary; D019009:Proto-Oncogene Proteins c-kit / Q000737:chemistry* / Q000235:genetics* / Q000378:metabolism; D012878:Skin Neoplasms / Q000235:genetics* / Q000473:pathology
chemical_list: D019009:Proto-Oncogene Proteins c-kit