Department of Surgical Sciences, Endocrine Unit, Uppsala University, SE-751 85 Uppsala, Sweden.
Mol Cancer. 2010 Nov 15;9:294. doi: 10.1186/1476-4598-9-294.
Parathyroid carcinoma (PC) is a very rare malignancy with a high tendency to recur locally, and recurrent disease is difficult to eradicate. In most western European countries and United States, these malignant neoplasms cause less than 1% of the cases with primary hyperparathyroidism, whereas incidence as high as 5% have been reported from Italy, Japan, and India. The molecular etiology of PC is poorly understood.
The APC (adenomatous polyposis coli) tumor suppressor gene was inactivated by DNA methylation in five analyzed PCs, as determined by RT-PCR, Western blotting, and quantitative bisulfite pyrosequencing analyses. This was accompanied by accumulation of stabilized active nonphosphorylated β-catenin, strongly suggesting aberrant activation of the WNT/β-catenin signaling pathway in these tumors. Treatment of a primary PC cell culture with the DNA hypomethylating agent 5-aza-2'-deoxycytidine (decitabine, Dacogen(r)) induced APC expression, reduced active nonphosphorylated β-catenin, inhibited cell growth, and caused apoptosis.
Aberrant WNT/β-catenin signaling by lost expression and DNA methylation of APC, and accumulation of active nonphosphorylated β-catenin was observed in the analyzed PCs. We suggest that adjuvant epigenetic therapy should be considered as an additional option in the treatment of patients with recurrent or metastatic parathyroid carcinoma.
甲状旁腺癌(PC)是一种非常罕见的恶性肿瘤,局部复发倾向很高,而复发性疾病难以根除。在大多数西欧国家和美国,这些恶性肿瘤导致原发性甲状旁腺功能亢进症的病例不到 1%,而意大利、日本和印度的报告发病率高达 5%。PC 的分子病因尚不清楚。
通过 RT-PCR、Western blot 和定量亚硫酸氢盐焦磷酸测序分析,在 5 例分析的 PC 中发现 APC(腺瘤性结肠息肉病)肿瘤抑制基因因 DNA 甲基化而失活。这伴随着稳定的活性非磷酸化β-连环蛋白的积累,强烈提示这些肿瘤中存在异常激活的 WNT/β-连环蛋白信号通路。用 DNA 去甲基化剂 5-氮杂-2'-脱氧胞苷(地西他滨,Dacogen(r))处理原代 PC 细胞培养物可诱导 APC 表达,减少活性非磷酸化β-连环蛋白,抑制细胞生长并诱导细胞凋亡。
在分析的 PC 中观察到 APC 表达缺失和 DNA 甲基化导致的异常 WNT/β-连环蛋白信号转导,以及活性非磷酸化β-连环蛋白的积累。我们建议,辅助表观遗传学治疗应被视为治疗复发性或转移性甲状旁腺癌患者的附加选择。