Oliveira Ferreira Fáblio, Napoli Ferreira Claudia Cristina, Rossi Benedito Mauro, Toshihiko Nakagawa Wilson, Aguilar Samuel, Monteiro Santos Erika Maria, Vierira Costa Marcelo Leite, Lopes Ademar
Department of Pelvic Surgery, Hospital do Cancer A.C. Camargo, Antonio Prudente Foundation, São Paulo, Brazil.
Fam Cancer. 2004;3(1):41-7. doi: 10.1023/B:FAME.0000026810.99776.e9.
The two main forms of hereditary colorectal cancer are familial adenomatous polyposis (FAP) and hereditary nonpolyposis colorectal cancer (HNPCC). Some families do not meet all the diagnostic criteria for HNPCC or FAP and are classified as familial colorectal cancer (FCC). Little information is available on the spectrum of tumors related to HNPCC and FCC in South America.
To describe the frequency of malignant tumors in a group of Brazilian families with HNPCC or FCC in an Institutional Hereditary Colorectal Cancer Registry.
The study included 61 families (29 HNPCC and 32 FCC) between January 1998 and June 2001. HNPCC families were clinically classified according to the Amsterdam Criteria I or II. FCC families were characterized by the presence of at least two individuals with CRC or extra-colonic tumors associated with the HNPCC spectrum, at least one of them being under 50 years of age.
In the 29 families with HNPCC, 201 patients with cancer were identified among 1241 individuals (589 men and 652 women). Among the 201 patients 223 tumors were observed: 137 CRC (55 in men and 82 in women) and 86 extra-colonic (37 in men and 49 in women). In the 32 families with FCC, 146 patients with cancer were identified among 1053 individuals (505 men and 548 women); 158 tumors were observed in 146 patients, 75 CRC (33 in men and 42 in women) and 83 extra-colonic tumors (47 in men and 36 in women). The most frequent extra-colonic primary sites among the HNPCC families were: endometrium (26.5%) and breast (26.5%) (women), and stomach (35.1%) (men). Among the FCC families, the most common primary sites were: breast (27.8%) (women), and stomach (44.4%) (men).
The high frequency of endometrial and gastric cancer found was expected, since these tumors are part of the HNPCC spectrum, but the high frequency of breast cancer requires further molecular investigation to determine a possible hereditary predisposition associated with hereditary CRC.
遗传性结直肠癌的两种主要形式是家族性腺瘤性息肉病（FAP）和遗传性非息肉病性结直肠癌（HNPCC）。一些家族不符合HNPCC或FAP的所有诊断标准，被归类为家族性结直肠癌（FCC）。在南美洲，关于与HNPCC和FCC相关的肿瘤谱的信息很少。
在一个机构性遗传性结直肠癌登记处，描述一组患有HNPCC或FCC的巴西家族中恶性肿瘤的发生频率。
该研究纳入了1998年1月至2001年6月期间的61个家族（29个HNPCC家族和32个FCC家族）。HNPCC家族根据阿姆斯特丹标准I或II进行临床分类。FCC家族的特征是至少有两名患有结直肠癌或与HNPCC谱相关的结肠外肿瘤的个体，其中至少一人年龄在50岁以下。
在29个HNPCC家族中，在1241名个体（589名男性和652名女性）中识别出201名癌症患者。在这201名患者中观察到223个肿瘤：137个结直肠癌（男性55个，女性82个）和86个结肠外肿瘤（男性37个，女性49个）。在32个FCC家族中，在1053名个体（505名男性和548名女性）中识别出146名癌症患者；在146名患者中观察到158个肿瘤，75个结直肠癌（男性33个，女性42个）和83个结肠外肿瘤（男性47个，女性36个）。HNPCC家族中最常见的结肠外原发部位是：子宫内膜（26.5%）和乳腺（26.5%）（女性），以及胃（35.1%）（男性）。在FCC家族中，最常见的原发部位是：乳腺（27.8%）（女性），以及胃（44.4%）（男性）。
发现的子宫内膜癌和胃癌的高发生率在意料之中，因为这些肿瘤是HNPCC谱的一部分，但乳腺癌的高发生率需要进一步的分子研究，以确定与遗传性结直肠癌相关的可能的遗传易感性。
Zotero 插件