Characteristics of patients with familial adenomatous polyposis in Spain. First results of the Spanish Registry of Familial Adenomatous Polyposis
Characteristics of patients with familial adenomatous polyposis in Spain. First results of the Spanish Registry of Familial Adenomatous Polyposis
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DOI：
10.1016/j.medcli.2009.09.054
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发表时间：
2010-06-19
期刊：
影响因子：
3.9
通讯作者：
Martinez de Juan, Fernando
中科院分区：
文献类型：
--
作者：
Alfaro, Ignacio;Ocana, Teresa;Martinez de Juan, Fernando
背景和目标：家族性腺瘤性息肉病是一种遗传性疾病，其特征是存在多个结直肠腺瘤（经典型超过100个，减毒型在10至100个之间），具有结直肠癌发展的高风险。为了改善这些患者的诊断和治疗管理，西班牙家族性腺瘤性息肉病登记处于2007年成立。我们的目的是评估西班牙家族性腺瘤性息肉病患者的临床病理特征。患者和方法：在一年内纳入登记处的所有患者均根据其人口统计学、临床、病理学和遗传学特征进行评估。纳入了来自15个西班牙中心的156个无关家族的243例患者。130例患者为男性，诊断时的平均年龄为40岁。根据临床表现，127例为经典型，116例为减毒型。在67例（28%）患者中发现了结肠直肠腺瘤伴高度异型增生，在42例（17%）患者中发现了结肠直肠癌。结肠外表现为：十二指肠受累（n=46），胃受累（n=44），硬纤维瘤（n=24），甲状腺癌（n=8），骨瘤（n=6）和脑瘤（n=1）。APC和/或MYH基因检测进行了140（90%）的家庭，其中75（54%）（70在APC基因和5在MYH基因）检测致病突变。结论：在其第一年的可操作性，大量的患者和家庭被列入登记册。结直肠癌患病率的降低以及接受基因检测的家庭比例的提高证明了西班牙的高质量临床实践。(C)2009 Elsevier Espana，S.L. All rights reserved.
Background and objectives: Familial adenomatous polyposis is an inherited disorder characterized by the presence of multiple colorectal adenomas (more than 100 in the classic form and between 10 and 100 in the attenuated one), with a high risk of colorectal cancer development. To improve the diagnostic and therapeutic management of these patients, the Spanish Registry of Familial Adenomatous Polyposis was created in 2007.We aimed to evaluate the clinicopathological characteristics of patients with familial adenomatous polyposis in Spain.Patients and methods: All patients included in the Registry during one year were evaluated with respect to their demographic, clinical, pathological, and genetic characteristics.Results: 243 patients of 156 unrelated families from 15 Spanish centers were included. One hundred thirty patients were male, and the mean age at diagnosis was 40 years. According to the clinical presentation, 127 corresponded to the classic form and 116 to the attenuated one. Colorectal adenoma with high-grade dysplasia was identified in 67 (28%) patients, and colorectal cancer in 42 (17%). Extracolonic manifestations were: duodenal involvement (n=46), gastric involvement (n=44), desmoid tumors (n=24), thyroid cancer (n=8), osteomas (n=6) and brain tumor (n=1). APC and/or MYH gene testing was performed in 140(90%) families, detecting the causative mutation in 75 (54%) of them (70 in the APC gene and 5 in the MYH gene).Conclusions: During its first year of operability, a large number of patients and families were included in the Registry. The reduced prevalence of colorectal cancer as well as the large proportion of families submitted to gene testing demonstrated a high-quality clinical practice in Spain. (C) 2009 Elsevier Espana, S.L. All rights reserved.