MOLECULAR BIOLOGIC STUDIES ON THE CAUSE OF PARATHYROID NEOPLASIA

甲状旁腺肿瘤病因的分子生物学研究

• 批准号: 3754547
• 负责人: A SPIEGEL
• 金额: --
• 依托单位: NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/3754547
• 关键词: adenoma; carcinoma; gene mutation; genetic disorder; human genetic material tag; human tissue; hyperparathyroidism; hyperplasia; molecular oncology; neoplasm /cancer genetics; parathyroid neoplasms

Primary hyperparathyroidism (HPT), a common endocrine disorder that can cause significant morbidity, may be due to benign neoplasia of a single parathyroid gland (adenoma) or multiple parathyroid glands (hyperplasia), and rarely, to malignant neoplasia of a parathyroid gland (carcinoma). The etiology of parathyroid neoplasia has not been defined. As with other forms of neoplasia, parathyroid tumors are presumably due to inherited (germ-line mutation) and/or acquired (somatic mutation) defects in specific genes. Etiologic genetic defects could include inappropriate expression of transforming "oncogenes" and/or loss of expression of tumor "suppressor" genes. The availability of surgically resected parathyroid tumors from patients with sporadic and hereditary forms of disease allows us to search for tumor-specific genetic abnormalities that may be involved in development of parathyroid neoplasia.

原发性甲状旁腺功能亢进（HPT）是一种常见的内分泌疾病， 引起显著的发病率，可能是由于良性肿瘤的单一 甲状旁腺（腺瘤）或多发性甲状旁腺（增生）， 很少发生甲状旁腺的恶性肿瘤（癌）。 甲状旁腺肿瘤的病因尚未明确。 如同 其他形式的肿瘤，甲状旁腺肿瘤可能是由于 遗传性（生殖系突变）和/或获得性（体细胞突变）缺陷 在特定的基因中。 病因遗传缺陷可能包括不适当的 转化“癌基因”的表达和/或肿瘤表达的丧失 “抑制”基因。 手术切除甲状旁腺的可行性 来自散发性和遗传性疾病患者的肿瘤允许 我们寻找肿瘤特异性遗传异常， 参与甲状旁腺肿瘤的发展。