Nagore E, Botella-Estrada R, Garcia-Casado Z, Requena C, Serra-Guillen C, Llombart B, Sanmartin O, Guillen C
Dermatology, Instituto Valenciano de Oncologia, Valencia, Spain.
J Eur Acad Dermatol Venereol. 2008 Aug;22(8):931-6. doi: 10.1111/j.1468-3083.2008.02682.x. Epub 2008 Mar 19.
Some clinical, pathological and genetic features have been associated to familial melanoma, particularly multiple melanoma and earlier age at diagnosis. To compare the clinical, epidemiological and pathological differences between familial and sporadic melanoma patients in Valencia, Spain, a series of 959 patients with cutaneous melanoma were selected at a single institution. For this study the following variables were selected: age, sex, melanoma site and presence of solar lentigines on the melanoma surrounding skin, histological subtype, tumor thickness, stage, family and personal history of cutaneous melanoma and of other neoplasias, personal history of non-melanoma skin cancer, past personal history of severe sunburns, cutaneous phenotype (phototype, hair and eyes colors number of common nevus, number of atypical nevi, presence of solar lentigines). Forty-one (4.28%) familial and 918 sporadic melanoma were identified. Among the multiple variables studied, a younger age at diagnosis (median age of 42 vs 53 years), higher frequency of the presence of at least one clinically atypical nevus (36.1% vs 17.7%), multiple melanomas (12.2% vs 3.4%) and red/blonde hair (33.3% vs 18.9%), and a lower rate of cases with solar lentigines in melanoma site (33.3% vs 56.3%) were found for familial cases. Except for hair color and age, the other variables remained statistically significant after the multivariate study. Interestingly, no acral melanomas were found among the familial cases. In summary, phenotypic risk factors for familial melanoma are a tendency to develop multiple melanomas, to have clinically atypical nevi and to present less actinic damage at the melanoma site. All these results enhance the relevancy of genetic susceptibility associated to the ability to produce atypical nevi and partly to a higher sensitivity to the sun.
一些临床、病理和遗传特征与家族性黑色素瘤相关，尤其是多发性黑色素瘤和诊断时年龄较早。为比较西班牙巴伦西亚家族性和散发性黑色素瘤患者的临床、流行病学和病理差异，在一家机构选取了959例皮肤黑色素瘤患者。本研究选取了以下变量：年龄、性别、黑色素瘤部位、黑色素瘤周围皮肤的日光性雀斑、组织学亚型、肿瘤厚度、分期、皮肤黑色素瘤和其他肿瘤的家族史及个人史、非黑色素瘤皮肤癌的个人史、既往严重晒伤史、皮肤表型（光型、头发和眼睛颜色、普通痣数量、非典型痣数量、日光性雀斑的存在情况）。确定了41例（4.28%）家族性黑色素瘤和918例散发性黑色素瘤。在所研究的多个变量中，家族性病例诊断时年龄较小（中位年龄42岁对53岁）、至少有一个临床非典型痣的频率较高（36.1%对17.7%）、多发性黑色素瘤（12.2%对3.4%）和红/金色头发（33.3%对18.9%），黑色素瘤部位有日光性雀斑的病例比例较低（33.3%对56.3%）。除头发颜色和年龄外，多变量研究后其他变量仍具有统计学意义。有趣的是，家族性病例中未发现肢端黑色素瘤。总之，家族性黑色素瘤的表型危险因素是倾向于发生多发性黑色素瘤、有临床非典型痣且黑色素瘤部位光化性损伤较少。所有这些结果都增强了与产生非典型痣能力相关的遗传易感性的相关性，部分与对阳光更高的敏感性相关。
