Department of Medicine, Mount Sinai School of Medicine, New York, NY, USA.
Hum Pathol. 2012 Apr;43(4):601-4. doi: 10.1016/j.humpath.2011.06.022. Epub 2011 Oct 21.
Cowden syndrome is a rare, autosomal-dominant, multisystem disorder characterized by hamartomatous tissue overgrowth and an increased risk of breast, thyroid, and endometrial cancers. Most of the cases arise from germline mutations of the phosphatase and tensin homologue tumor suppressor gene. An association with colon cancer remains unproven but has been suggested in previous reports. We present the case of a 42-year-old man with colonic ganglioneuromatous polyps and an adjacent colonic adenoma giving rise to a signet-ring adenocarcinoma with lymph node metastases in the setting of Cowden syndrome. Although gastrointestinal polyps are a common feature of Cowden syndrome, reports of ganglioneuromatous polyps and malignant degeneration are rare. Cutaneous features of Cowden syndrome in our patient include "cobblestone" lesions of the tongue and oral mucosa, facial trichilemmomas, multiple acral keratoses, and a storiform collagenoma.
考登综合征是一种罕见的常染色体显性遗传、多系统疾病，其特征为错构瘤性组织过度生长，并且乳腺癌、甲状腺癌和子宫内膜癌的风险增加。大多数病例是由于磷酸酶和张力蛋白同源物肿瘤抑制基因的种系突变引起的。虽然以前的报告中曾提示结肠直肠癌与考登综合征有关，但尚未得到证实。我们报告了 1 例 42 岁男性患者，其结肠存在神经节细胞瘤性息肉和相邻的结肠腺瘤，导致在考登综合征背景下出现具有淋巴结转移的印戒细胞腺癌。尽管胃肠道息肉是考登综合征的常见特征，但神经节细胞瘤性息肉和恶性转化的报告很少见。我们患者的考登综合征皮肤特征包括舌和口腔黏膜的“鹅卵石”病变、面部毳毛瘤、多发性肢端角化病和梭形胶原瘤。
