Bergman W, Watson P, de Jong J, Lynch H T, Fusaro R M
Department of Dermatology, University Medical Centre Leiden, The Netherlands.
Br J Cancer. 1990 Jun;61(6):932-6. doi: 10.1038/bjc.1990.209.
The FAMMM syndrome consists of the familial occurrence of cutaneous malignant melanoma and atypical nevi (dysplastic nevi), and is inherited as an autosomal dominant trait. Conflicting results have been reported on the question of whether the syndrome includes increased susceptibility to non-melanoma cancers. We have studied cancer of all anatomic sites and histologies in nine FAMMM families which were ascertained in a pigmented lesions clinic in the Netherlands. We evaluated two hypotheses: that the number of systemic cancers observed in the families was excessive, compared to expected incidence, based on Dutch incidence data, and that there was variation (or heterogeneity) among families in the frequency of systemic cancer. A significant excess of systemic cancer (especially digestive tract cancer) was observed. Significant heterogeneity was also found among the families; three of the nine families had marked excess in numbers of systemic cancers, and the remaining families had normal numbers of cancers among the known FAMMM gene carriers and their first degree relatives. Thus, we provide evidence of increased susceptibility to systemic cancer occurring in conjunction with the FAMMM syndrome in a subset of this resource.
FAMMM综合征包括家族性皮肤恶性黑色素瘤和非典型痣（发育异常痣），呈常染色体显性遗传。关于该综合征是否包括对非黑色素瘤癌症易感性增加的问题，已有相互矛盾的报道。我们研究了在荷兰一家色素沉着病变诊所确诊的9个FAMMM家族中所有解剖部位和组织学类型的癌症。我们评估了两个假设：一是基于荷兰发病率数据，与预期发病率相比，这些家族中观察到的全身性癌症数量过多；二是家族中全身性癌症的发生率存在差异（或异质性）。我们观察到全身性癌症（尤其是消化道癌症）显著增多。家族之间也发现了显著的异质性；9个家族中有3个家族的全身性癌症数量明显过多，其余家族中已知的FAMMM基因携带者及其一级亲属的癌症数量正常。因此，我们提供了证据，证明在这部分人群中，FAMMM综合征患者对全身性癌症的易感性增加。
