Cytogenetic follow-up in a case with a primary cutaneous melanoma and fivemetastatic lesions

Cytogenetic analyses conducted on several cases of melanoma have contribute d to the identification of the chromosomal regions where the sequences resp onsible for malignant transformation and the evolution of this tumor are pr obably located. With regard to these problems, it is very important to have the possibility to analyze, through the use of cytogenetics, both the prim ary melanoma and the metastatic lesions from the same patient. We present a case in which the primary melanoma and five different metastases were stud ied by using cytogenetics. The primary tumor showed an inversion of chromosome I where the p36 region, often proposed in literature as the location of a melanoma susceptibility gene, was involved. Three cutaneous and one lymphonodal metastases presented the same nine clon al chromosomal aberrations. In particular; one is a further rearrangement o f the marker present in the primary tumor; another is a deletion of the 9p2 1pter region in which the p16 gene is located. Our results can provide a contribution to the hypothesis of the location of a candidate gene for melanoma in the 1p36 region and can also underscore t he role of the 9p21 region in the progression of melanoma.