Newton J A, Bataille V, Griffiths K, Squire J M, Sasieni P, Cuzick J, Bishop D T, Swerdlow A
Imperial Cancer Research Fund (ICRF) Skin Tumour Laboratory, Royal London Hospital, U.K.
J Am Acad Dermatol. 1993 Dec;29(6):989-96. doi: 10.1016/0190-9622(93)70279-3.
Although patients from some families with the atypical mole syndrome (AMS) are predisposed to melanoma, it is not known how frequently this underlies the apparently sporadic presentation of melanoma.
This study was designed to estimate the frequency of the AMS (dysplastic nevus or FAMMM syndrome) phenotype in a population-based study of patients with melanoma in the United Kingdom and to determine the prevalence of the phenotype in the relatives of the patients with AMS.
The nevi of patients with melanoma and controls in a case-control study, and the nevi of some relatives of patients with AMS, were examined. An AMS scoring system was used to define the AMS phenotype. The familiarity of the AMS phenotype was then determined by screening first-degree relatives of persons with the AMS phenotype.
Forty of 266 (15%) of patients with melanoma had the AMS phenotype compared with 7 of 305 (2%) of the controls (odds ratio 7.5, 95% confidence interval 3.4-16.8). Screening of relatives of patients with melanoma who had the AMS phenotype identified the same phenotype within the families, providing evidence that the AMS phenotype in patients with melanoma is predictive of the same phenotype in relatives, consistent with so-called type D1 AMS.
The AMS phenotype is a potent risk factor for cutaneous melanoma and is present in 15% of patients. Melanoma in the United Kingdom is more common in women than in men, but the AMS phenotype was more frequent in men in this study. It is our hypothesis that the effects of the putative AMS gene are diluted by environmental factors in U.K. women. Screening of relatives of patients with melanoma who have the AMS phenotype may identify persons at increased risk of melanoma.
尽管一些患有非典型痣综合征（AMS）的家族中的患者易患黑色素瘤，但尚不清楚这种情况在黑色素瘤明显散发的病例中出现的频率。
本研究旨在估计在英国一项基于人群的黑色素瘤患者研究中AMS（发育异常痣或家族性非典型多发性痣黑色素瘤综合征）表型的频率，并确定AMS患者亲属中该表型的患病率。
在一项病例对照研究中检查了黑色素瘤患者和对照者的痣，以及一些AMS患者亲属的痣。使用AMS评分系统来定义AMS表型。然后通过筛查具有AMS表型者的一级亲属来确定AMS表型的家族聚集性。
266例黑色素瘤患者中有40例（15%）具有AMS表型，而305例对照者中有7例（2%）具有该表型（优势比7.5，95%置信区间3.4 - 16.8）。对具有AMS表型的黑色素瘤患者的亲属进行筛查，发现家族成员中存在相同表型，这表明黑色素瘤患者中的AMS表型可预测其亲属中的相同表型，与所谓的D1型AMS一致。
AMS表型是皮肤黑色素瘤的一个重要危险因素，在15%的患者中存在。在英国，黑色素瘤在女性中比在男性中更常见，但在本研究中AMS表型在男性中更频繁。我们的假设是，在英国女性中，假定的AMS基因的作用被环境因素所稀释。对具有AMS表型的黑色素瘤患者的亲属进行筛查可能会识别出黑色素瘤风险增加的人群。
