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法国家族性与非家族性黑色素瘤的比较。

Comparison between familial and nonfamilial melanoma in France.

作者信息

Grange F, Chompret A, Guilloud-Bataille M, Guillaume J C, Margulis A, Prade M, Demenais F, Avril M F

机构信息

Department of Medical Oncology, Institut Gustave-Roussy, Villejuif, France.

出版信息

Arch Dermatol. 1995 Oct;131(10):1154-9.

PMID:7574832
Abstract

BACKGROUND AND DESIGN

Five percent to 10% of cutaneous malignant melanomas (CMMs) occur in a familial setting. Clinical, epidemiologic, and genetic studies of familial CMM in different regions of the world have led to various results. To assess the characteristics of familial CMM in France, the clinical, histologic, and epidemiologic characteristics of 295 patients with CMM were recorded, and a comprehensive familial investigation was performed for each case. Patients with a family history of CMM were compared with nonfamilial cases.

RESULTS

Cutaneous malignant melanoma occurred as a familial cancer in 22 (8%) of 295 patients. Among the multiple variables studied, those significantly associated with the familial occurrence of CMM were red hair, inability to tan, and presence of clinically atypical moles. When these variables were considered together in a multivariate analysis, only the association with red hair (P = .001) and atypical moles (P < .05) remained significant. In addition, the patients with familial melanoma exhibited the following tendencies: a younger age at diagnosis, a higher number of moles, and the development of multiple primary melanomas, but these results did not reach statistical significance. Factors relating to UV light exposure, histologic features of CMM, course of the disease, and occurrence of nonmelanoma cancers showed a similar distribution between familial and nonfamilial cases.

CONCLUSION

A familial investigation should be performed for each patient with CMM in France, particularly when he or she exhibits phenotypic risk factors for CMM such as red hair and atypical moles.

摘要

背景与设计

5%至10%的皮肤恶性黑色素瘤(CMM)发生在家族性背景中。对世界不同地区家族性CMM的临床、流行病学和遗传学研究得出了各种结果。为评估法国家族性CMM的特征,记录了295例CMM患者的临床、组织学和流行病学特征,并对每个病例进行了全面的家族调查。将有CMM家族史的患者与非家族性病例进行比较。

结果

295例患者中有22例(8%)的皮肤恶性黑色素瘤为家族性癌症。在研究的多个变量中,与CMM家族性发生显著相关的变量是红发、不能晒黑以及临床上存在非典型痣。当在多变量分析中综合考虑这些变量时,只有与红发(P = .001)和非典型痣(P < .05)的关联仍然显著。此外,家族性黑色素瘤患者表现出以下倾向:诊断时年龄较小、痣的数量较多以及发生多个原发性黑色素瘤,但这些结果未达到统计学显著性。与紫外线暴露、CMM的组织学特征、疾病进程以及非黑色素瘤癌症的发生相关的因素在家族性和非家族性病例之间显示出相似的分布。

结论

在法国,应对每例CMM患者进行家族调查,特别是当他或她表现出CMM的表型危险因素如红发和非典型痣时。

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Br J Cancer. 2008 Jul 22;99(2):364-70. doi: 10.1038/sj.bjc.6604470. Epub 2008 Jul 8.
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MC1R genotype modifies risk of melanoma in families segregating CDKN2A mutations.MC1R基因分型改变了携带CDKN2A突变的家族中患黑色素瘤的风险。
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