细胞化
Jean-François Emile1, Fleur Cohen-Aubart2, Matthew Collin3
1EA4340 BECCOH, Université de Versailles SQY, Service de Pathologie, Hôpital Ambroise Paré, AP-HP, Boulogne, France.
Lancet (London, England)
|April 26, 2021
概括
囊瘤是一种罕见的骨髓细胞疾病,影响任何器官,在成年人中经常被诊断为晚期. 激活MAP激酶通路的基因突变是关键,有针对性的治疗提供了新的希望.
科学领域:
- 血液学
- 癌症学
- 罕见疾病
背景情况:
- 囊细胞瘤是一种罕见的异质性疾病,涉及各种器官的髓细胞透.
- 这些情况可以影响任何年龄组,但由于表现不同,成年人往往会延迟诊断.
研究的目的:
- 审查诊断挑战,潜在的分子机制,以及细胞病的治疗进展.
- 突出分子分析对预后和治疗选择的重要性.
主要方法:
- 对细胞病例的临床,组织学和分子发现的审查.
- 对治疗结果的分析,包括针对性治疗的反应.
主要成果:
- 在受影响的组织和血液中经常发现MAP激酶通路基因的体内突变.
- 针对性BRAF或MEK抑制剂在救援治疗中表现出显著的成功.
结论:
- 准确的诊断需要全面的调查和分子类型的预后评估.
- 虽然有针对性的疗法是有效的,但最佳的治疗策略和预防神经复杂症需要进一步研究.
相关概念视频
Lysosomal Hydrolases
4.2K
Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
4.2K
Liver Histology
2.8K
The microscopic anatomy of the liver is a complex and intricate system that comprises numerous structural units known as liver lobules, each of which is comparable in size to a sesame seed. These hexagonal structures consist of plates of liver cells or hepatocytes, which are characterized by their versatility and abundance of cellular apparatus like rough and smooth ER, Golgi apparatus, peroxisomes, and mitochondria.
Hepatocytes perform a variety of essential functions. They secrete...
Hepatocytes perform a variety of essential functions. They secrete...
2.8K
Transcytosis of IgG
3.5K
Transcytosis is the process in which molecules are internalized by endocytosis, transported across the cell, and released through exocytosis from the opposite end of the cell. Molecules such as insulin, immunoglobulins, and certain nutrients are transferred through the recycling endosomes by recycling and transcytosis.
IgG molecules from a mother undergo transcytosis starting around 13 weeks of gestation. The amount of IgG transferred and entering the fetal blood circulation increases with...
IgG molecules from a mother undergo transcytosis starting around 13 weeks of gestation. The amount of IgG transferred and entering the fetal blood circulation increases with...
3.5K
EPS and iPS Cells in Disease Research
3.1K
Embryonic and induced pluripotent stem cells are excellent models for disease research because of their ability to self-renew and differentiate into most cell types. Somatic cells from a patient are isolated and reprogrammed into induced pluripotent stem cells or iPSCs. These iPSCs are later differentiated into the desired cell type, which mirrors the diseased cell of the patient. In this way, disease models have been created for investigating diseases such as Down syndrome, type I diabetes,...
3.1K
Cystic Fibrosis: Pathogenesis
522
Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
522
Cardiomyopathy III: Hypertrophic Cardiomyopathy
117
Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
117


