title: Instability at sequence repeats in melanocytic tumours.
abstract: To obtain information on the prevalence of microsatellite mutations in melanomas, we analysed the status of 14 repetitive loci characterized by structurally different non-coding and coding sequence repeats in a panel of 34 primary melanocytic tumours and in lymph node metastases matched to 13 cases. Instability at one or more of the non-coding dinucleotide repeats D2S123, D3S1611, D5S107 and D18S34 was detected in ten out of the 34 primary tumours (29%) and in ten of the 13 metastases (77%). There was no instability at the non-coding mononucleotide repeats BAT25, BAT26 and APDelta3 or at the coding mononucleotide runs within the TGFbetaRII, IGFIIR, BAX, hMSH3 and hMSH6 genes. A five-repeats expansion of the coding E2F4(CAG)n run was found in the only malignant melanoma of soft parts examined, which also showed instability at two dinucleotide loci, and in a superficial spreading melanoma, which was stable at the mononucleotide and dinucleotide repeats but was the only tumour that manifested instability at the SCA1(CAG)n repeat. The absence of mutations at mononucleotide tracts indicates that, in the malignant melanomas tested, microsatellite instability was not associated with the microsatellite mutator phenotype characteristic of mismatch repair-deficient tumours. On the other hand, our results confirm that microsatellite instability at dinucleotide repeats increases with melanoma progression, and indicate that expansions of triplet repeats may occur in melanocytic tumours.
authors.affiliation: Institute of Dermatology, Policlinico Umberto I, University La Sapienza, Rome, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Richetta
authors.forename: L
authors.initials: L
authors.lastname: Ottini
authors.forename: M
authors.initials: M
authors.lastname: Falchetti
authors.forename: D
authors.initials: D
authors.lastname: Innocenzi
authors.forename: U
authors.initials: U
authors.lastname: Bottoni
authors.forename: R
authors.initials: R
authors.lastname: Faiola
authors.forename: R
authors.initials: R
authors.lastname: Mariani-Costantini
authors.forename: S
authors.initials: S
authors.lastname: Calvieri
mesh_terms: D000328:Adult; D000368:Aged; D002648:Child; D005260:Female; D006801:Humans; D008207:Lymphatic Metastasis / Q000235:genetics; D008297:Male; D008544:Melanocytes / Q000378:metabolism*; D008545:Melanoma / Q000235:genetics*; D018895:Microsatellite Repeats; D008875:Middle Aged; D009154:Mutation; D009362:Neoplasm Metastasis; D010641:Phenotype; D012091:Repetitive Sequences, Nucleic Acid; D017422:Sequence Analysis, DNA; D019680:Trinucleotide Repeat Expansion