We report the case of a 17-year-old girl with a constitutional chromosome anomaly (ring chromosome 7), associated with multiple pigmented skin lesions, who developed malignant melanoma. Eight other cases of ring chromosome 7 are described in the literature; all present vascular or pigmented skin lesions, but our patient was the first to develop a malignant tumor. Genetic studies in malignant melanoma are discussed, as well as the possible link between a constitutional anomaly of chromosome 7 and the occurrence of malignant melanoma. This association is possibly not fortuitous, particularly since most ring chromosome 7 patients reported to date have pigmented skin lesions.
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Rotern et al. (2009) studied this question.