FAMILIAL GIANT HYPERPLASTIC POLYPOSIS PREDISPOSING TO COLORECTAL CANCER: A NEW HEREDITARY BOWEL CANCER SYNDROME
FAMILIAL GIANT HYPERPLASTIC POLYPOSIS PREDISPOSING TO COLORECTAL CANCER: A NEW HEREDITARY BOWEL CANCER SYNDROME
复制标题
易患结直肠癌的家族性巨大增生性息肉病：一种新的遗传性肠癌综合征
作者：
P. Jeevaratnam;D. Cottier;P. Browett;N. Water;V. Pokos;J. Jass;J. Jass
一位母亲和她的 10 个孩子中的 5 个患有结肠癌，母亲和其中一个孩子在诊断时年龄不到 50 岁。尽管满足遗传性非息肉病性结直肠癌（HNPCC）的阿姆斯特丹标准，但一些特征表明这可能代表家族性癌症的不同综合征。最值得注意的是，其中四名受试者存在大的多发性增生性息肉和混合息肉，其病理学可供审查。此外，四名受试者中的三名患有 DNA 复制错误 (RER−) 阴性的癌症。患有 RER+ 癌症的受试者患有第二种 RER+ 癌症和三个腺瘤，其中一个与第二种癌症相邻。该受试者还患有多发性大的增生性息肉，从而结合了增生性息肉病和多发性 RER+ 肿瘤的倾向。其中一颗增生性息肉也是 RER+。五分之二的无症状年轻后代被发现患有多发性结直肠息肉。有人认为，巨大增生性息肉病是一种易患结直肠癌的新家族综合征。
A mother and five of her ten offspring developed colonic cancers, the mother and one of the offspring being younger than 50 years of age at diagnosis. Despite fulfilling the Amsterdam criteria for hereditary non‐polyposis colorectal cancer (HNPCC), several features pointed towards the possibility that this represented a different syndrome of familial cancer. Most notable was the presence of large, multiple hyperplastic polyps and mixed polyps in four of the subjects whose pathology was available for review. In addition, three of the four subjects had cancers that were negative for DNA replication errors (RER−). The subject with an RER+ cancer had a second RER+ cancer and three adenomas, one in contiguity with the second cancer. This subject also had multiple, large hyperplastic polyps, thereby combining hyperplastic polyposis and a proneness to multiple RER+ tumours. One of the hyperplastic polyps was also RER+. Two of five young asymptomatic descendants have been found to harbour multiple colorectal polyps. It is suggested that giant hyperplastic polyposis is a new familial syndrome predisposing to colorectal cancer.
登录
查看更多内容
结直肠病变发育不良的分子决定因素。
影响因子：
11.2
作者：
Jen,J;Powell,SM;Papadopoulos,N;Smith,KJ;Hamilton,SR;Vogelstein,B;Kinzler,KW
通讯作者：
Kinzler,KW
影响因子：
56.9
作者：
GOELZ, SE;VOGELSTEIN, B;FEINBERG, AP
通讯作者：
FEINBERG, AP
DOI：
--
发表时间：
1994-07
期刊：
The American journal of pathology
影响因子：
--
作者：
Hoguen Kim;J. Jen;B. Vogelstein;S. Hamilton
通讯作者：
Hoguen Kim;J. Jen;B. Vogelstein;S. Hamilton
影响因子：
56.9
作者：
AALTONEN, LA;PELTOMAKI, P;DELACHAPELLE, A
通讯作者：
DELACHAPELLE, A