Loss of the 9p21 region, 6q and 10q and gain of chromosome 7 are the most frequent chromosomal abnormalities found in human melanomas, but very few cytogenetic data are available regarding dysplastic and common naevi. To study the occurrence of the most consistent chromosomal changes during melanocytic tumorigenesis, archival samples from 30 common naevi and 30 naevus-associated melanomas were analysed by interphase fluorescence in situ hybridization (FISH) using centromeric probes for chromosomes 9 and 7 and locus-specific probes for 9p21, 6q11.1, 6q24.1, 10p15.3 and 10q23.1 regions. In naevus-associated melanomas, separate evaluations were made for sectors corresponding to residual naevus, dysplastic naevus, radial growth phase melanoma and vertical growth phase melanoma. No chromosomal aberrations were found in common naevi, but monosomy 7 was observed in one case. In naevus-associated melanomas, loss of the entire chromosome 9 or of the 9p21 region was observed in 56% of common and 54% of dysplastic naevus sectors, in 64% of radial growth phase melanoma and in 82% of vertical growth phase melanoma. Loss of the long arm of chromosome 6, monosomy 10 and deletion 10q were exclusively confined to radial (18% for both chromosomes) and vertical (29 and 59%, respectively) growth phase melanomas. Polysomy of chromosome 7 was detected only in melanoma sectors (radial growth phase, 14%; vertical growth phase, 59%). The high incidence of 9p21 loss in melanoma-associated naevi, which is maintained in all evolutionary phases of melanocytic tumorigenesis, and the complete absence of chromosomal aberrations in common naevi, strongly suggest that 9p21 loss may be regarded as a cytogenetic marker of melanocytic naevi with a high potential for progression.
Units of aPathology
bSurgical Dermatology, Institute for Cancer Research and Treatment, Strada Provinciale 142, 10060 Candiolo-Torino, Italy
Sponsorship: This work was supported by a research grant from Regione Piemonte, Project ‘Melanoma’ (Chairman: Dr M. Clerico).
Correspondence and requests for reprints to Mauro Risio, Unit of Pathology, IRCC, Strada Provinciale 142, 10060 Candiolo-Torino, Italy
Tel: (+39) 011 9933465; fax: (+39) 011 9933480;
Received 15 October 2004 Accepted (after revision) 18 February 2005