Tanaka K, Uemoto S, Asonuma K, Katayama T, Utsunomiya H, Akiyama Y, Sasaki M S, Ozawa K
Second Department of Surgery, Faculty of Medicine, Kyoto University, Japan.
Eur J Pediatr Surg. 1992 Oct;2(5):298-300. doi: 10.1055/s-2008-1063464.
A very rare case of mosaic type trisomy 18 associated with hepatoblastoma is described. The patient underwent an extended right hepatic lobectomy at 2 years of age, and the resected tumor was diagnosed as a fetal type dominant hepatoblastoma. The results of chromosome analysis demonstrated that in the peripheral blood and skin, the trisomy 18 cells were 80% and 67%, respectively. On the other hand, although virtually 100% of the cells in the normal liver tissue were 46, XX, about one third of the cells were trisomy 18 in the tumor tissue. At 2 years and 9 months after the operation, the patient was generally healthy and had no evidence of recurrence.
本文描述了一例极为罕见的与肝母细胞瘤相关的嵌合型18三体综合征病例。该患者在2岁时接受了扩大右肝叶切除术，切除的肿瘤被诊断为胎儿型为主的肝母细胞瘤。染色体分析结果显示，外周血和皮肤中的18三体细胞分别为80%和67%。另一方面，正常肝组织中几乎100%的细胞为46, XX，但肿瘤组织中约三分之一的细胞为18三体。术后2年9个月时，患者总体健康，无复发迹象。
