Berg-Drewniok B, Weichenthal M, Ehlert U, Rümmelein B, Breitbart E W, Rüdiger H W
Department of Dermatology, University of Hamburg, Germany.
Cancer Genet Cytogenet. 1997 Sep;97(2):106-10. doi: 10.1016/s0165-4608(96)00364-0.
The phenomenon of spontaneous increased micronuclei and enhanced UV-sensitivity, which is known for familial cutaneous malignant melanoma (CMM) patients, could be demonstrated again in fibroblasts of 17 familial CMM patients. In order to determine if close relatives of familial CMM patients show both a comparable spontaneous chromosomal instability and enhanced UV-sensitivity, cultured fibroblasts of 24 healthy, first-degree relatives of patients with familial malignant melanoma were investigated. The cytokinesis-block micronucleous technique was used to detect enhanced chromosomal instability. Fibroblasts of the investigated relatives showed a significantly increased spontaneous formation of micronuclei, in comparison to 19 healthy controls, but no enhanced UV-sensitivity was evident. We conclude that chromosomal instability might be a hereditary trait and a causative factor in developing familial malignant melanoma. This supports the concept of a genetic predisposition to familial CMM and may help to identify high-risk family members at a cytogenetic level in addition to the common clinicopathological traits.
家族性皮肤恶性黑色素瘤(CMM)患者中存在的自发微核增加和紫外线敏感性增强现象,在17例家族性CMM患者的成纤维细胞中再次得到证实。为了确定家族性CMM患者的近亲是否表现出类似的自发染色体不稳定性和增强的紫外线敏感性,对24名家族性恶性黑色素瘤患者的健康一级亲属的培养成纤维细胞进行了研究。采用胞质分裂阻滞微核技术检测增强的染色体不稳定性。与19名健康对照相比,被调查亲属的成纤维细胞自发形成微核的数量显著增加,但未发现紫外线敏感性增强。我们得出结论,染色体不稳定性可能是一种遗传特征,也是家族性恶性黑色素瘤发生的一个致病因素。这支持了家族性CMM存在遗传易感性的概念,除了常见的临床病理特征外,还可能有助于在细胞遗传学水平上识别高危家庭成员。