Vasen H F, Griffioen G, Offerhaus G J, Den Hartog Jager F C, Van Leeuwen-Cornelisse I S, Meera Khan P, Lamers C B, Van Slooten E A
Foundation for the Detection of Hereditary Tumours, Utrecht, The Netherlands.
Dis Colon Rectum. 1990 Mar;33(3):227-30. doi: 10.1007/BF02134185.
In 1984 a national registry of families with familial adenomatous polyposis was set up in The Netherlands to promote screening in those families. Eight-two families had been registered by the end of 1988. Analysis of the pedigrees showed that 204 family members at risk had not yet been screened. The diagnosis of familial adenomatous polyposis was histologically confirmed in 230 patients. These patients were subdivided into two groups. Group A comprised patients with familial adenomatous polyposis referred because they were symptomatic, and Group B relatives of these patients who were found by screening to have familial adenomatous polyposis. The authors compared these groups with respect to the occurrence of colorectal carcinoma. Fifty-four patients were found to have a colorectal carcinoma at the time of diagnosis of familial adenomatous polyposis, i.e., 49 of the 104 patients in Group A (47 percent) and five of the 126 patients in Group B (4 percent). The average age at diagnosis of the 104 patients in Group A was 35 years (range, 13 to 66 years) and that of the 126 patients in Group B was 24 years (range, 8 to 59 years). By the age of 40 years, 90 percent of the patients in group B had been diagnosed. Late onset of familial adenomatous polyposis was found in four families. Endoscopy and/or radiography of the upper digestive tract were (was) performed in 44 of the 230 patients. Nineteen patients (43 percent) were found to have polyps in the stomach or duodenum, or both. In our series, only one patient died from cancer of the upper digestive tract (ampullary carcinoma). These results show conclusively that screening leads to the early detection of familial adenomatous polyposis. The value of a national registry is proved by the finding of many at-risk family members who had not previously been screened. Screening should start between the ages of 10 and 12 and should continue up to the age of 50. In the rare cases of families with an apparently late onset of familial adenomatous polyposis, screening should be continued up to age 60. More studies are needed to determine the natural history of polyps in the upper digestive tract.
1984年，荷兰建立了家族性腺瘤性息肉病家族全国登记处，以推动对这些家族进行筛查。到1988年底，已有82个家族登记在册。对家系的分析表明，有204名有风险的家族成员尚未接受筛查。经组织学确诊为家族性腺瘤性息肉病的患者有230例。这些患者被分为两组。A组包括因有症状而前来就诊的家族性腺瘤性息肉病患者，B组是这些患者中经筛查发现患有家族性腺瘤性息肉病的亲属。作者比较了这两组患者结直肠癌的发生率。在诊断家族性腺瘤性息肉病时，发现有54例患者患有结直肠癌，即A组104例患者中有49例（47%），B组126例患者中有5例（4%）。A组104例患者的平均诊断年龄为35岁（范围13至66岁），B组126例患者的平均诊断年龄为24岁（范围8至59岁）。到40岁时，B组90%的患者已被诊断。在4个家族中发现了家族性腺瘤性息肉病的迟发病例。230例患者中有44例接受了上消化道内镜检查和/或放射检查。19例患者（43%）被发现胃或十二指肠或两者均有息肉。在我们的系列研究中，只有1例患者死于上消化道癌（壶腹癌）。这些结果确凿地表明，筛查可导致家族性腺瘤性息肉病的早期发现。许多此前未接受筛查的有风险家族成员被发现，证明了全国登记处的价值。筛查应在10至12岁之间开始，并持续到50岁。在家族性腺瘤性息肉病明显迟发的罕见家族病例中，筛查应持续到60岁。需要更多的研究来确定上消化道息肉的自然病程。
