乳红细胞瘤 - 偏角细胞瘤综合征:一种多种疾病,具有不同的基因型和表型特征
Mara Giacché1, Maria Chiara Tacchetti2, Claudia Agabiti-Rosei2
1Department of Medical and Surgical Specialties, Division of Clinical Genetics, ASST-Spedali Civili, 25133 Brescia, Italy.
Biomedicines
|October 26, 2024
概括
乳红细胞瘤和偏角细胞瘤 (PPGL) 是一种罕见的瘤. 基因检测至关重要,可以在40%的患者中识别突变,指导基于分子特征的定制监测和个性化治疗.
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:
- 乳红细胞瘤和偏角细胞瘤 (PPGL) 是一种罕见的神经内分泌瘤.
- 诊断和管理是复杂的,因为呈现的变化和catecholamine过量.
- 基因和分子特征的进步正在改善理解和护理.
研究的目的:
- 审查目前对PPGL遗传学和分子特征的理解.
- 突出基因测试在PPGL诊断和管理中的重要性.
- 讨论分子特征对量身定制的治疗和监测的影响.
主要方法:
- 关于PPGLs遗传和分子特征的最新发现的审查.
- 已知和新型易感性基因中的生殖线和体质突变的分析.
- 整合基因组和转录基因组数据以识别分子签名.
主要成果:
- 在40%的PPGL患者中发现了生殖系突变,包括零星病例 (10-12%).
- 已知易感基因 (NF1,VHL,RET,SDHx) 和新型基因 (TMEM,MAX,FH) 都与此有关.
- 分子特征识别了高达70%的PPGL的驱动基因,揭示了三个不同的分子特征 (伪低毒性,激酶,Wnt通路).
结论:
- 基因检测对于PPGL护理至关重要,使个性化监测和治疗成为可能.
- 了解分子特征 (伪缺氧,激酶,Wnt) 是定制治疗策略的关键.
- 基于遗传和分子洞察力的多学科管理改善了PPGL患者的治疗结果.
相关概念视频
Pleiotropy
40.0K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
40.0K
Adrenal Gland Disorders
1.4K
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...
1.4K
Genetic Lingo
101.4K
Overview
101.4K
Human Genetics
536
Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
The complex relationship between genetics and psychology is observable through common biological components such...
536
Peripheral Nervous System: Ganglia and Nerves
1.7K
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...
1.7K
Psychosis: Pathophysiology of Schizophrenia and Other Psychotic Disorders
483
Schizophrenia is a neurodevelopmental disorder whose origins are rooted in complex genetic components. Despite our burgeoning understanding, the pathophysiology of this disorder remains incompletely deciphered.
Researchers have identified genetic factors that increase susceptibility to schizophrenia, underscoring the intricate interplay between genetics and environment in disease development. At the core of schizophrenia's pathophysiology is excessive dopaminergic neurotransmission within...
Researchers have identified genetic factors that increase susceptibility to schizophrenia, underscoring the intricate interplay between genetics and environment in disease development. At the core of schizophrenia's pathophysiology is excessive dopaminergic neurotransmission within...
483


