类型特征分析和分子机制在高甲状腺功能障碍症-下瘤综合征
Rana Tora1, James Welch1, Jian Sun2
1Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA.
The Journal of clinical endocrinology and metabolism
|June 20, 2023
概括
甲状腺功能增强症 - 瘤 (HPT-JT) 综合征患者经常患有原发性甲状腺功能增强症和副甲状腺癌. 子宫多是女性的特征,而特定的CDC73变体会导致脏瘤的发生.
科学领域:
- 内分泌学 在内分泌学.
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
背景情况:
- 甲状腺增生症-瘤综合征 (HPT-JT) 是一种罕见的遗传性疾病,其特征是原发性甲状腺增生症和甲状腺癌的风险增加,由CDC73基因的生殖基因突变引起.
- 对HPT-JT综合征的管理指南有限,需要进一步研究其自然历史和分子基础.
研究的目的:
- 描述HPT-JT综合征的自然史.
- 为了将副甲状腺瘤的基因型和组织学与帕拉纤维素 (编码由CDC73) 表达相关联.
- 为了阐明在HPT-JT综合征中CDC73损失下游的分子变化.
主要方法:
- 对来自29个亲属的68名患有遗传确认的HPT-JT综合征的患者进行了回顾性分析.
- 来自2名患者的子宫瘤和来自19名患者的副甲状腺瘤 (13种腺瘤,6种癌症) 的甲状腺腺瘤对准纤维素免疫分泌物的独立审查.
- 21个副甲状腺样本的RNA测序 (8个HPT-JT相关腺瘤,6个HPT-JT相关癌症和7个零星癌症).
主要成果:
- 81%的患者患上了原发性副甲状腺功能障碍,31%患上了副甲状腺癌. 在38%的女性中发生了子宫瘤,通常呈现为罕见的多重型病变.
- 在p.M1残留物中的特定的CDC73变异与对脏瘤的倾向有关.
- 准纤维素染色与瘤组织学或基因型没有相关性,但RNA测序揭示了与HPT-JT瘤中跨膜受体蛋白氨酸激酶信号传递,中皮结合和细胞-细胞粘附通路的关联.
结论:
- 多重,复发的非典型的腺瘤性子宫息肉是女性HPT-JT综合征的特征.
- 患有p.M1残留的CDC73变体的患者表现出患瘤的倾向.
- 了解受CDC73损失影响的分子通路对于管理HPT-JT综合征至关重要.
更多相关视频
07:13Two Techniques to Create Hypoparathyroid Mice: Parathyroidectomy Using GFP Glands and Diphtheria-Toxin-Mediated Parathyroid Ablation
Published on: March 14, 2017
14.6K
07:12Establishment of a Simple and Effective Rat Model for Intraoperative Parathyroid Gland Imaging
Published on: August 17, 2022
3.6K
相关概念视频
The Parathyroid Glands
2.2K
The two pairs of parathyroid glands embedded within the posterior surface of the thyroid gland are restricted by a dense capsule around them. These glands comprise two distinct cell populations—parathyroid oxyphil and parathyroid principal cells- pivotal in calcium homeostasis.
Oxyphil cells, whose functions remain elusive, emerge during late puberty, adding a layer of complexity to the parathyroid gland's intricacies. In contrast, principal parathyroid cells undertake a vital role by...
Oxyphil cells, whose functions remain elusive, emerge during late puberty, adding a layer of complexity to the parathyroid gland's intricacies. In contrast, principal parathyroid cells undertake a vital role by...
2.2K
Hormones and Bone Tissue
2.8K
The endocrine system produces and secretes hormones, which interact with the skeletal system. These hormones control bone growth, maintain bone once it is formed, and remodel it.
Hormones That Influence Osteoblasts and/or Maintain the Matrix
Several hormones are necessary for controlling bone growth and maintaining the bone matrix. The pituitary gland secretes growth hormone (GH), which, as its name implies, controls bone growth. This happens in several ways: first, it triggers chondrocyte...
Hormones That Influence Osteoblasts and/or Maintain the Matrix
Several hormones are necessary for controlling bone growth and maintaining the bone matrix. The pituitary gland secretes growth hormone (GH), which, as its name implies, controls bone growth. This happens in several ways: first, it triggers chondrocyte...
2.8K
Pulmonary Hypertension: Classification and Pathogenesis
234
Pulmonary hypertension (PH) is a severe health condition in which the mean pulmonary arterial pressure increases to 25 mmHg or more, even when the body is at rest. This high pressure in the blood vessels that transport blood from the heart to the lungs can cause various symptoms, including shortness of breath, can lead to right heart failure, and significantly affect the overall quality of life.
There are various classifications for PH, each relating to different underlying causes and also...
There are various classifications for PH, each relating to different underlying causes and also...
234
Tumor Progression
6.4K
Tumor progression is a phenomenon where the pre-formed tumor acquires successive mutations to become clinically more aggressive and malignant. In the 1950s, Foulds first described the stepwise progression of cancer cells through successive stages.
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...
6.4K
