Nationwide survey of nevoid basal cell carcinoma syndrome in Japan revealing the low frequency of basal cell carcinoma
Nationwide survey of nevoid basal cell carcinoma syndrome in Japan revealing the low frequency of basal cell carcinoma
复制标题
DOI：
10.1002/ajmg.a.34421
复制
发表时间：
2012-02-01
影响因子：
2
通讯作者：
Miyashita, Toshiyuki
中科院分区：
文献类型：
--
作者：
Endo, Mamiko;Fujii, Katsunori;Miyashita, Toshiyuki
痣样基底细胞癌综合征（NBCCS）的特征是发育缺陷和肿瘤发生。NBCCS的临床表现在美国、英国和澳大利亚的大型流行病学研究中有报道，但在亚洲国家没有报道。我们在日本进行了一项全国性调查，确定了311名NBCCS患者。我们调查了157例患者的详细临床表现，年龄从9个月到77岁（平均：33.1岁）。然后，我们比较了日本NBCCS患者与之前进行NBCCS研究的上述三个国家的患者发生各种肿瘤的频率和发病年龄。我们最重要的发现是日本患者基底细胞癌（BCC）的发生率较低。20岁以上患者的BCC频率为51.4%，远低于美国、澳大利亚和英国（分别为91%、85%和73%）。基底细胞癌的平均发病年龄为37.4岁，与上述国家相比要大得多。这些发现表明，种族和/或环境因素的差异影响BCC的发病率。由于BCC发病的年龄一般较高，在日本NBCCS患者，仔细的皮肤检查，在一段较长的时间是必要的。(C)2012 Wiley Periodicals，Inc.
Nevoid basal cell carcinoma syndrome (NBCCS) is characterized by developmental defects and tumorigenesis. The clinical manifestations of NBCCS have been reported in large epidemiological studies from the United States, the United Kingdom, and Australia, but not from an Asian country. We conducted a nationwide survey and identified 311 NBCCS patients in Japan. We investigated the detailed clinical manifestations of 157 patients ranging in age from 9 months to 77 years old (mean: 33.1 years). We then compared the frequency and age of onset for various tumors developed in Japanese NBCCS patients with patients from the three countries listed above in which NBCCS studies were previously conducted. Our most significant finding was the low frequency of basal cell carcinoma (BCC) in Japanese patients. Frequency of BCC in patients over 20 years of age was 51.4%, a much lower rate compared to the United States, Australia, and the United Kingdom (91%, 85%, and 73%, respectively). The mean age of BCC onset was 37.4 years of age, a much older age compared to the above-mentioned countries. These findings suggest that differences in ethnicity and/or environmental factors affect the incidence of BCC. Because the age of BCC onset is generally higher in Japanese NBCCS patients, careful skin examination over a prolonged period of time is warranted. (C) 2012 Wiley Periodicals, Inc.