de Ferro Susana Mão, Suspiro Alexandra, Fidalgo Paulo, Lage Pedro, Rodrigues Paula, Fragoso Sofia, Vitoriano Inês, Baltazar Célia, Albuquerque Cristina, Bettencourt António, Leitão Carlos Nobre
Instituto Português de Oncologia de Lisboa Francisco Gentil, EPE, Gastrenterologia, Lisbon, Portugal.
Dis Colon Rectum. 2009 Apr;52(4):742-5. doi: 10.1007/DCR.0b013e318199db93.
MYH-associated polyposis is an inherited autosomal recessive disease, linked to biallelic germline MYH mutations, which predisposes to the development of multiple colorectal adenomas and cancer. The colonic and extracolonic phenotype of this syndrome is very heterogeneous. We report the case of a young male patient with an aggressive MYH-associated polyposis phenotype. He presented at aged 30 years with more than 100 colonic polyps and 4 colonic adenocarcinomas. At aged 35 years, Spigelman Stage IV duodenal adenomatosis was detected. When he was 39 years old, he developed three synchronous jejunal adenocarcinomas and a mesenteric desmoid tumor. Based on this report, we believe that screening of the entire small bowel should be recommended in MYH-associated polyposis patients, especially in those with duodenal adenomas. Similar to patients with familial adenomatous polyposis, desmoid tumors also may be part of the clinical spectrum of MYH-associated polyposis and may prove to be a significant clinical problem in patients submitted to prophylactic colectomy.
MYH相关性息肉病是一种常染色体隐性遗传病，与双等位基因种系MYH突变有关，易引发多发性结肠直肠腺瘤和癌症。该综合征的结肠和结肠外表型非常多样。我们报告了一例具有侵袭性MYH相关性息肉病表型的年轻男性患者。他30岁时出现100多个结肠息肉和4例结肠腺癌。35岁时，检测出斯皮格尔曼IV期十二指肠腺瘤病。39岁时，他同时发生了3例空肠腺癌和1例肠系膜硬纤维瘤。基于本报告，我们认为对于MYH相关性息肉病患者，尤其是患有十二指肠腺瘤的患者，应建议对整个小肠进行筛查。与家族性腺瘤性息肉病患者类似，硬纤维瘤也可能是MYH相关性息肉病临床谱的一部分，对于接受预防性结肠切除术的患者而言，可能是一个重大的临床问题。
