Yoshida Tsukasa, Tajika Masahiro, Tanaka Tsutomu, Ishihara Makoto, Hirayama Yutaka, Mizuno Nobumasa, Hara Kazuo, Hijioka Susumu, Imaoka Hiroshi, Hieda Nobuhiro, Okuno Nozomi, Kinoshita Takashi, Bhatia Vikram, Shimizu Yasuhiro, Yatabe Yasushi, Yamao Kenji, Niwa Yasumasa
Department of Gastroenterology, Aichi Cancer Center Hospital, Japan.
Intern Med. 2017;56(3):295-300. doi: 10.2169/internalmedicine.56.7274. Epub 2017 Feb 1.
A young woman with Li-Fraumeni syndrome (LFS) was referred to our hospital. On examination, multiple flat neoplasms were detected in addition to semi-pedunculated polyps. Restorative proctocolectomy was performed; one submucosal invasive cancer, two mucosal cancers, and several adenomas with high-grade dysplasia were detected. On immunohistochemical staining with p53, every part of all neoplasms, even the small adenomas, showed strong positive staining. Multiple flat neoplasms may be characteristic of patients with LFS and may have a much higher risk of rapid progression to invasive carcinomas than sporadic neoplasms. Thus, careful and frequent colonoscopy surveillance may be needed for patients with LFS.
一名患有李-弗劳梅尼综合征（LFS）的年轻女性被转诊至我院。检查时，除了有蒂息肉外，还发现了多个扁平肿瘤。进行了保留肛门的直肠结肠切除术；检测到1例黏膜下浸润癌、2例黏膜癌和数例高级别异型增生腺瘤。用p53进行免疫组化染色时，所有肿瘤的各个部位，甚至是小腺瘤，均显示强阳性染色。多个扁平肿瘤可能是LFS患者的特征，并且与散发性肿瘤相比，其快速进展为浸润性癌的风险可能要高得多。因此，LFS患者可能需要仔细且频繁地进行结肠镜监测。
