Lynch H T, Fusaro R M, Danes B S, Kimberling W J, Lynch J F
Cancer Genet Cytogenet. 1983 Apr;8(4):325-58. doi: 10.1016/0165-4608(83)90075-4.
This review provides a comprehensive coverage of hereditary malignant melanoma with emphasis upon its heterogeneity as well as newly developed biomarker investigations. The recently described familial atypical multiple mole melanoma (FAMMM) syndrome is featured. Particular attention has been given to findings of increased hyperdiploidy observed as an in vitro phenomenon in cultured skin fibroblasts from high-risk and FAMMM-affected subjects. The FAMMM genotype is complex in that it predisposes a patient not only to melanoma (cutaneous and intraocular malignant melanoma) but also to other histologic varieties of cancer, including cancer of the lung, pancreas, and breast. Attention is given to cancer surveillance and management programs for patients at increased risk for the several forms of hereditary malignant melanoma. This approach capitalizes advantageously upon employment of a knowledge of genetics and hereditary cancer syndrome identification, with particular attention to tumor associations.
本综述全面涵盖了遗传性恶性黑色素瘤,重点关注其异质性以及新开展的生物标志物研究。文中介绍了最近描述的家族性非典型多发痣黑色素瘤(FAMMM)综合征。特别关注了在高危和受FAMMM影响的受试者的培养皮肤成纤维细胞中作为体外现象观察到的超二倍体增加的发现。FAMMM基因型很复杂,因为它不仅使患者易患黑色素瘤(皮肤和眼内恶性黑色素瘤),还易患其他组织学类型的癌症,包括肺癌、胰腺癌和乳腺癌。文中还关注了几种遗传性恶性黑色素瘤高危患者的癌症监测和管理方案。这种方法有效地利用了遗传学知识和遗传性癌症综合征的识别,尤其关注肿瘤关联。