Lynch H T, Lynch P M, Follett K L, Harris R E
J Med Genet. 1979 Feb;16(1):1-7. doi: 10.1136/jmg.16.1.1.
We describe 2 extended kindreds supposedly manifesting familial multiple adenomatous polyposis coli (FPC), but which show marked heterogeneity in the phenotypic expression of colorectal adenomatous polyps. In one family, 2 individuals had diffuse polyposis at very early ages (7 and 10 years), while 6 others (aged 23 to 72 years) had solitary polyps only. Of the patients with solitary polyps, 2 had associated colonic malignancies (ages 26 and 35), while another had a prophylactic colectomy performed at age 46. In the second family, 5 of the 11 patients with evidence of polyps showed the classical presentation of FPC, while the remainder showed marked phenotypic variation. The marked variability in frequency and location of colon polyps points to the need to reassess our traditional criteria for diagnosis of FPC. The high risk of early onset colon cancer in patients from these families who have the most minimal manifestation, namely isolated polyps, recommends more careful scrutiny of supposedly unaffected members of all FPC kindreds.
我们描述了2个据称表现为家族性多发性结肠息肉病（FPC）的大家族，但在结直肠腺瘤性息肉的表型表达上显示出明显的异质性。在一个家族中，2名个体在非常年幼时（7岁和10岁）就出现了弥漫性息肉病，而另外6人（年龄在23至72岁之间）仅患有单个息肉。在患有单个息肉的患者中，2人伴有结肠恶性肿瘤（年龄分别为26岁和35岁），而另1人在46岁时接受了预防性结肠切除术。在第二个家族中，11名有息肉证据的患者中有5人表现出FPC的典型症状，而其余患者则表现出明显的表型变异。结肠息肉的频率和位置存在明显差异，这表明需要重新评估我们诊断FPC的传统标准。这些家族中表现最为轻微（即仅有单个息肉）的患者患早期结肠癌的风险很高，这建议对所有FPC家族中看似未受影响的成员进行更仔细的检查。
