Tulpule Sunil, Ibrahim Hiyam, Osman Mohamed, Zafar Shoaib, Kanta Romana, Shypula Gregory, Islam Mohammed A, Sen Shuvendu, Yousif Abdalla
Department of Medicine, Raritan Bay Medical Center, Perth Amboy, N.J., USA.
Case Rep Oncol. 2016 Feb 4;9(1):95-9. doi: 10.1159/000443788. eCollection 2016 Jan-Apr.
Muir-Torre syndrome (MTS) is a rare genodermatosis, diagnosed by the presence of sebaceous neoplasms along with an internal malignancy, most commonly colorectal carcinomas. MTS is most commonly caused by microsatellite instabilities of the hMLH1 and hMSH2 mismatch repair genes, and is rarely caused by mutations of the hMSH6 gene. We describe the case of a 56-year-old male who presented with an enlarging mass on his back as well as hematochezia. The back mass was excised, and pathology confirmed microsatellite instability in MSH2 and MSH6. Abdominal CT and colonoscopy confirmed the presence of synchronous masses in the cecum, ascending colon, and the transverse colon. He refused any further workup or treatment, only to return 8 months later complaining of hematochezia and discomfort due to an enlarging mass protruding from the rectum. After consenting to surgical intervention, he agreed to outpatient chemotherapy treatment. The presence of sebaceous neoplasms should raise suspicion for the possibility of an associated internal malignancy.
穆尔-托雷综合征（MTS）是一种罕见的遗传性皮肤病，其诊断依据是存在皮脂腺肿瘤以及一种内部恶性肿瘤，最常见的是结直肠癌。MTS最常见的病因是hMLH1和hMSH2错配修复基因的微卫星不稳定性，很少由hMSH6基因突变引起。我们描述了一名56岁男性的病例，他背部出现肿块且有便血症状。背部肿块被切除，病理检查证实MSH2和MSH6存在微卫星不稳定性。腹部CT和结肠镜检查证实盲肠、升结肠和横结肠存在同步肿块。他拒绝了进一步的检查或治疗，8个月后因直肠有增大的肿块突出导致便血和不适而复诊。在同意手术干预后，他同意接受门诊化疗。皮脂腺肿瘤的出现应引起对相关内部恶性肿瘤可能性的怀疑。
