Greene M H, Clark W H, Tucker M A, Kraemer K H, Elder D E, Fraser M C
Ann Intern Med. 1985 Apr;102(4):458-65. doi: 10.7326/0003-4819-102-4-458.
The risk of hereditary cutaneous malignant melanoma was evaluated in 401 members of 14 families with an autosomal dominant form of melanoma. We documented 127 primary melanomas in 69 family members, including 39 new melanomas diagnosed in 22 study participants from the time of first examination through a maximum of 8 years of follow-up. The 39 newly diagnosed melanomas occurred only in family members with dysplastic nevi, a known precursor of familial melanoma. Of 77 patients with dysplastic nevus syndrome without prior melanomas, 4 developed their first melanoma during prospective follow-up, as compared with 0.03 cases expected. The prospective age-adjusted incidence for melanoma was 14.3/1000 patients with dysplastic nevus per year, with a cumulative melanoma risk (+/- SE) of 7.2% (+/- 3.6) at 8 years. The actuarial probability of melanoma developing in family members with dysplastic nevi was 56.0% (+/- 10.1) from age 20 to age 59. This study confirms that dysplastic nevi are clinical markers of high risk for, and precursors of, hereditary melanoma.
对14个患有常染色体显性遗传型黑色素瘤家族的401名成员的遗传性皮肤恶性黑色素瘤风险进行了评估。我们记录了69名家族成员中的127例原发性黑色素瘤，其中包括在22名研究参与者中从首次检查起经过最长8年随访诊断出的39例新发黑色素瘤。这39例新诊断出的黑色素瘤仅发生在有发育异常痣的家族成员中，发育异常痣是家族性黑色素瘤已知的前期病变。在77例既往无黑色素瘤的发育异常痣综合征患者中，4例在随访期间发生了首例黑色素瘤，而预期为0.03例。黑色素瘤的前瞻性年龄调整发病率为每年每1000例发育异常痣患者中有14.3例，8年时黑色素瘤累积风险（±标准误）为7.2%（±3.6%）。发育异常痣家族成员中发生黑色素瘤的精算概率在20岁至59岁时为56.0%（±10.1%）。本研究证实，发育异常痣是遗传性黑色素瘤高风险的临床标志物和前期病变。
