Rozen Paul, Samuel Ziona, Brazowski Eli, Jakubowicz Markus, Rattan Jacob, Halpern Zamir
Department of Gastroenterology, Tel Aviv Medical Center, 6 Wizmann St., Tel Aviv 64239, Israel.
Fam Cancer. 2003;2(1):1-7. doi: 10.1023/a:1023226909534.
Familial juvenile polyposis (JP) is an uncommon genetic disorder that, if untreated, can lead to gastrointestinal cancer. To evaluate familial JP prevalence, phenotypic manifestations, causative mutations, treatment and compliance for diagnosis and follow-up in our registry. Since 1993 our familial JP patients were registered, followed-up before and/or after surgery and their families encouraged to have mutation analysis, endoscopic screening and treatment. Ten pedigrees were identified, all Jewish, but only one was Ashkenazi, six were Sepharadi and three were Oriental; the only mutation found was BMPR1A in two of six pedigrees examined. Of 139 first-degree relatives at risk for JP, 62 (45%) had JP or cancer; 56 (40.3%) were available for follow-up and 35 entered the registry. Of these, 71% reported rectal bleeding, 40% had <20 colonic polyps, 31% had 20-100 polyps; 2 had >100 gastric polyps. Cancer occurred in 22.9% (6 colonic, 2 gastric) before familial JP diagnosis or during follow-up elsewhere or non-compliance for follow-up; however, 1 gastric cancer developed during our treatment. In 46% the initial clinical-pathological diagnosis was incorrect. Compliance for evaluation and follow-up of pedigree members and individual familial JP patients was inadequate in 20% and 26%, respectively. Familial JP does not occur in the Israeli Ashkenazi Jewish population at the expected proportion; it is often misdiagnosed and is inadequately recognized in Israeli non-Jews. Mutations were identified in only a minority of pedigrees despite comprehensive screening. The inadequate compliance for screening and follow-up needs to be addressed by educating the public, health care workers and health insurances.
家族性幼年性息肉病（JP）是一种罕见的遗传性疾病，若不治疗可导致胃肠道癌症。为评估我们登记处中家族性JP的患病率、表型表现、致病突变、治疗情况以及诊断和随访的依从性。自1993年起，我们对家族性JP患者进行登记，在手术前后进行随访，并鼓励其家人进行突变分析、内镜筛查和治疗。共确定了10个家系，均为犹太裔，但只有1个是阿什肯纳兹人，6个是西班牙裔，3个是东方裔；在所检测的6个家系中，仅在2个家系中发现了BMPR1A突变。在139名有患JP风险的一级亲属中，62名（45%）患有JP或癌症；56名（40.3%）可供随访，35名进入登记处。其中，71%报告有直肠出血，40%有少于20个结肠息肉，31%有20 - 100个息肉；2人有超过100个胃息肉。在家族性JP诊断之前、在其他地方随访期间或随访不依从时，22.9%（6例结肠癌、2例胃癌）发生了癌症；然而，在我们的治疗过程中发生了1例胃癌。46%的初始临床病理诊断不正确。家系成员和个体家族性JP患者评估及随访的依从性分别有20%和26%不足。家族性JP在以色列阿什肯纳兹犹太人群体中的发生率未达预期比例；在以色列非犹太人中常被误诊且认识不足。尽管进行了全面筛查，但仅在少数家系中发现了突变。需要通过对公众、医护人员和医疗保险进行教育来解决筛查和随访依从性不足的问题。
