背景:Muir-Torre综合征是错配修复基因的常染色体显性突变,随着时间的推移会引起皮脂腺肿瘤和内脏恶性肿瘤。因为结直肠癌和泌尿生殖系统癌症在Muir-Torre综合征中很常见,十二指肠癌的诊断常常延迟。
方法:一名58岁女性出现严重消瘦,厌食症,和上腹痛。她有直肠癌病史,升结肠癌,和右肩皮脂腺癌.上消化道内镜和计算机断层扫描检查提示肠系膜上动脉综合征引起的十二指肠梗阻,导致长期观察。七个月后,她最终被诊断为第三部分十二指肠癌。由于肿瘤的位置,Vater的乳头是可以保留的,她接受了部分十二指肠切除术代替胰十二指肠切除术。病理上,肿瘤是高分化腺癌,分类为T3N0M0IIA期(UICC,第8版)。术后进展顺利,食欲恢复。错配修复基因MSH2的突变在遗传上证实了Muir-Torre综合征的诊断。三年后,她的营养状况已完全恢复,没有复发和转移。
结论:在合并皮肤皮脂腺肿瘤和胃肠道恶性肿瘤的患者中,强烈建议进行基因筛查。Muir-Torre综合征患者需要长期随访,和功能保持治疗是可取的。
BACKGROUND: Muir-Torre syndrome is an autosomal-dominant mutation in mismatch repair genes that gives rise to sebaceous tumors and visceral malignancies over time. Because colorectal and genitourinary cancers are common in Muir-Torre syndrome, duodenal carcinoma diagnoses are often delayed.
METHODS: A 58-year-old woman presented with severe emaciation, anorexia, and upper abdominal pain. She had a history of rectal carcinoma, ascending colon carcinoma, and a right shoulder sebaceous carcinoma. Upper gastrointestinal endoscopy and computed tomography examinations suggested duodenal obstruction due to superior mesenteric artery syndrome, leading to long-term observation. Seven months later, she was finally diagnosed with duodenal carcinoma of the third portion. As the papilla of Vater was preservable due to tumor location, she received a partial duodenectomy in lieu of a pancreatoduodenectomy. Pathologically, the tumor was a well-differentiated adenocarcinoma with a classification of T3N0M0 Stage IIA (UICC, 8th edition). The postoperative course was uneventful and her appetite returned. A mutation in mismatch repair gene MSH2 confirmed the diagnosis of Muir-Torre syndrome genetically. Three years later, her nutritional status has fully recovered and she is free from both recurrence and metastasis.
CONCLUSIONS: In patients with comorbid skin sebaceous tumors and gastrointestinal malignancies, genetic screening is strongly recommended. Patients with Muir-Torre syndrome require long-term follow-up, and function-preserving treatment is desirable.