Takenouchi T, Ito M
Department of Dermatology, Niigata University School of Medicine.
Nihon Rinsho. 1995 Nov;53(11):2754-8.
Approximately 8 to 12% of cases of malignant melanoma (MM) are estimated to be familial in foreign countries, but such familial MM (FMM) is rare in Japan. Eleven Japanese cases of FMM, including our 3 cases in a family, have been reported. Comparison studies have revealed that the mean age at the onset of FMM is younger than that of sporadic MM. However, it is difficult to exclude the effects of early recognition of MM by frequent examinations in FMM families. In the majority of the families, the propensity to MM is associated with the presence of atypical mole, so-called dysplastic nevus syndrome phenotype. The inheritance pattern for FMM is thought to be autosomal dominant with incomplete penetrance. Linkage studies have shown at least two FMM loci on chromosome 1p36 and 9p21, thus providing a support for genetic heterogeneity in FMM.
据估计，在国外，约8%至12%的恶性黑色素瘤（MM）病例为家族性，但这种家族性MM（FMM）在日本较为罕见。包括我们报告的一个家族中的3例在内，日本已报道了11例FMM病例。比较研究表明，FMM发病的平均年龄比散发性MM的发病年龄小。然而，很难排除FMM家族中因频繁检查而早期发现MM的影响。在大多数家族中，患MM的倾向与非典型痣的存在有关，即所谓的发育异常痣综合征表型。FMM的遗传模式被认为是常染色体显性遗传且外显不全。连锁研究已显示在1p36和9p21染色体上至少有两个FMM位点，从而为FMM的遗传异质性提供了支持。
