Ishii S, Han S, Shiiba K, Mizoi T, Okabe M, Horii A, Nagura H, Matsuno S, Sasaki I
Division of Biological Regulation and Oncology, Department of Surgery, Tohoku University Graduate School of Medicine, 1-1 Seiryomachi, Aoba-ku, Sendai 980-8574, Japan.
Int J Clin Oncol. 2001 Aug;6(4):201-4. doi: 10.1007/pl00012105.
A 64-year-old man with neurofibromatosis type 1 (NF1) developed a primary malignant melanoma of the anus. Genetic analysis of the resected tumor confirmed loss of heterozygosity (LOH) of the NF1 gene. Anorectal malignant melanoma in NF1 is extremely rare, and genetic studies of the NF1 gene in such patients have not been reported. The allelic loss detected in the present patient supports the previously raised idea that NF1 can function as a tumor suppressor gene in the development of malignant melanoma in patients with NF1.
一名64岁的1型神经纤维瘤病（NF1）男性患者发生了原发性肛门恶性黑色素瘤。对切除肿瘤的基因分析证实了NF1基因杂合性缺失（LOH）。NF1患者的肛肠恶性黑色素瘤极为罕见，此前尚未有对此类患者NF1基因的遗传学研究报道。本患者检测到的等位基因缺失支持了之前提出的观点，即NF1在NF1患者恶性黑色素瘤发生过程中可作为肿瘤抑制基因发挥作用。
