Epigenetic Alterations in Parathyroid Cancers.
Epigenetic Alterations in Parathyroid Cancers.
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DOI：
10.3390/ijms18020310
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发表时间：
2017-02-01
影响因子：
5.6
通讯作者：
Corbetta S
中科院分区：
文献类型：
--
作者：
Verdelli C;Corbetta S
甲状旁腺癌（PCas）是一种罕见的恶性肿瘤，约占所有癌症的0.005%。原发性甲状旁腺功能亢进是第三常见的内分泌疾病，主要与甲状旁腺良性肿瘤有关，前列腺癌是一种罕见的原因。大约90%的前列腺癌是具有生殖活性的高分泌甲状旁腺素（PTH），因此患者会出现严重的高钙血症并发症。由于甲状旁腺良性病变的临床特征相似，术前诊断往往比较困难。尽管约50%的前列腺癌患者会出现持续性或复发性疾病，但手术提供了目前最好的治愈机会。编码副纤维蛋白的CDC 73/HRPT 2基因的体细胞失活突变是前列腺癌中最常见的遗传异常。最近，异常的DNA甲基化签名和microRNA表达谱已被确定在前列腺癌，提供证据表明，甲状旁腺恶性肿瘤是不同的实体从甲状旁腺良性病变，表现出类似于一些胚胎方面的表观遗传签名。本文综述了PCas表观遗传学改变的研究进展，主要包括DNA甲基化、染色质调节因子和microRNA谱。
Parathyroid cancers (PCas) are rare malignancies representing approximately 0.005% of all cancers. PCas are a rare cause of primary hyperparathyroidism, which is the third most common endocrine disease, mainly related to parathyroid benign tumors. About 90% of PCas are hormonally active hypersecreting parathormone (PTH); consequently patients present with complications of severe hypercalcemia. Pre-operative diagnosis is often difficult due to clinical features shared with benign parathyroid lesions. Surgery provides the current best chance of cure, though persistent or recurrent disease occurs in about 50% of patients with PCas. Somatic inactivating mutations of CDC73/HRPT2 gene, encoding parafibromin, are the most frequent genetic anomalies occurring in PCas. Recently, the aberrant DNA methylation signature and microRNA expression profile have been identified in PCas, providing evidence that parathyroid malignancies are distinct entities from parathyroid benign lesions, showing an epigenetic signature resembling some embryonic aspects. The present paper reviews data about epigenetic alterations in PCas, up to now limited to DNA methylation, chromatin regulators and microRNA profile.