遗传和临床洞察力对帕拉结瘤和染细胞瘤
Caitlin B Mauer Hall1, Elise M Watson2, Tanushree Prasad3
1Department of Health Care Sciences, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
Endocrine oncology (Bristol, England)
|November 14, 2024
概括
通过多基因面板,通过多基因面板确定遗传性偏角质瘤 (PGL) 和染细胞瘤 (PCC) 的风险. SDHA变异是常见的偶然发现,但在PGL/PCC患者中不太常见,需要进一步研究.
科学领域:
- 内分泌学 在内分泌学.
- 遗传学 是一个遗传学.
- 在瘤学瘤学.
背景情况:
- 大约30-40%的超结瘤 (PGL) 和染细胞瘤 (PCC) 有遗传性起源.
- 由于瘤的攻击性和相关的癌症风险,早期识别遗传风险至关重要.
- 这项研究侧重于患有PGL/PCC和/或遗传风险的患者.
研究的目的:
- 分析患有PGL/PCC和遗传风险的患者的临床表现和遗传史.
- 为了解这种罕见患者群体做出贡献.
- 评估多基因面板在识别遗传性PGL/PCC方面的实用性.
主要方法:
- 癌症遗传学诊所患者的回顾性图表审查 (2016年8月 - 2022年12月).
- 两个队列:在PGL/PCC基因中具有可能致病变体 (LPVs) /致病变体 (PVs) 的患者 (队列1) 和具有PGL/PCC个人病史的患者 (队列2).
- 对人口统计,个人/家庭病史和遗传检测结果的分析.
主要成果:
- 分析了560名患者 (队列1: 364,队列2: 269).
- 在第1组中,21.1%的人在PGL/PCC基因中有偶发的LPV/PV,主要在SDHx (46.8%),特别是SDHA (21名患者).
- 在第2组中,86名患者患有LPV/PV,最常见的是SDHx基因 (SDHB:24,SDHD:23).
结论:
- 多基因小组有效地识别患有遗传性PGL/PCC风险的患者,通常是偶然的.
- SDHA LPV/PV是常见的偶然发现,但在PGL/PCC患者中不太常见.
- 需要进一步进行纵向研究,以了解这些瘤的流行率和透率.
关键词:
SDHx SDHx SDHx SDHx SDHx SDHx SDHx SDHx SDHx SDHx SDHx遗传性倾向是一种遗传性倾向.偶然发现是偶然的发现.帕拉格里奥马马是什么意思叶染色细胞瘤 ( pheochromocytoma) 是一种致血性细胞瘤.更多相关视频
08:57Author Spotlight: Genetically Engineered Mouse Models and Pathological Characterization of Neurofibromatosis Type 1 Associated Tumors
Published on: May 17, 2024
1.9K
07:39Co-culture of Glutamatergic Neurons and Pediatric High-Grade Glioma Cells Into Microfluidic Devices to Assess Electrical Interactions
Published on: November 17, 2021
3.4K
相关概念视频
01:28Sympathetic Pathways: Collateral Ganglia and Adrenal Medulla
1.2K
The sympathetic pathways of the collateral ganglia and adrenal medulla serve unique but interconnected roles in the sympathetic response.
Collateral Ganglia
Sympathetic preganglionic axons reach the collateral ganglia along the route of splanchnic nerves. These nerves bypass the sympathetic trunk and communicate with sympathetic postganglionic neurons housed in the prevertebral ganglia. These ganglia supply the organs of the abdominopelvic cavity.
The greater splanchnic nerve, formed by the...
Collateral Ganglia
Sympathetic preganglionic axons reach the collateral ganglia along the route of splanchnic nerves. These nerves bypass the sympathetic trunk and communicate with sympathetic postganglionic neurons housed in the prevertebral ganglia. These ganglia supply the organs of the abdominopelvic cavity.
The greater splanchnic nerve, formed by the...
1.2K
01:27Adrenal Gland Disorders
1.3K
Adrenal gland disorders manifest when the production of adrenal hormones deviates from the norm, resulting in either excessive or insufficient concentrations.
Adrenal insufficiency, characterized by insufficient cortisol and aldosterone production, leads to conditions like Addison's disease. This disorder, affecting the adrenal cortex, exhibits symptoms such as skin bronzing, dehydration, low blood pressure, fatigue, and weight loss. Congenital adrenal hyperplasia, a genetic ailment causing...
Adrenal insufficiency, characterized by insufficient cortisol and aldosterone production, leads to conditions like Addison's disease. This disorder, affecting the adrenal cortex, exhibits symptoms such as skin bronzing, dehydration, low blood pressure, fatigue, and weight loss. Congenital adrenal hyperplasia, a genetic ailment causing...
1.3K
01:24Peripheral Nervous System: Ganglia and Nerves
1.6K
The Peripheral Nervous System (PNS) is a crucial component of the body's neural network, extending beyond the central nervous system (CNS) to bridge the gap between the CNS and the external environment. It encompasses nerves, ganglia, and sensory receptors.
Nerves
The nerve is a bundle of axons that serves as the communication highway in the PNS. Each nerve is ensheathed in a protective layer of connective tissue called the epineurium. This outermost layer safeguards the nerve and supports...
Nerves
The nerve is a bundle of axons that serves as the communication highway in the PNS. Each nerve is ensheathed in a protective layer of connective tissue called the epineurium. This outermost layer safeguards the nerve and supports...
1.6K
01:27Transducer Mechanism: Enzyme-Linked Receptors
2.4K
Enzyme-linked receptors are cell-surface receptors acting as an enzyme or associating with an enzyme intracellularly. They make excellent drug targets. Drugs can bind to the extracellular ligand-binding domain or directly affect their enzymatic domain and alter their activity.
Major types that are helpful drug targets include:
Major types that are helpful drug targets include:
2.4K
00:59The Parathyroid Glands
1.9K
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...
1.9K
01:32Sympathetic Signaling
885
Sympathetic signaling, a vital part of the autonomic nervous system, plays a crucial role in mobilizing the body's resources in response to stress or emergencies. It involves the transmission of nerve impulses from sympathetic preganglionic fibers to postganglionic fibers. This results in the release of specific neurotransmitters and activation of adrenergic receptors.
Sympathetic preganglionic fibers release the neurotransmitter acetylcholine (ACh) onto the ganglionic neurons in the...
Sympathetic preganglionic fibers release the neurotransmitter acetylcholine (ACh) onto the ganglionic neurons in the...
885