克隆进化和血统切换从T细胞急性淋巴细胞白血病到治疗耐药的急性髓性白血病PICALM::MLLT10白血病
Machiko Kawamura1,2, Daichi Sadato3, Masayuki Haruta4
1Department of Clinical Laboratory Medicine Saitama Cancer Center Saitama Japan.
EJHaem
|January 26, 2026
概括
罕见的PICALM:MLLT10阳性T-ALL可以在缓解后几年转变为急性髓性白血病 (AML). 这一案例凸显了持续性恶性原始体,以及需要先进的分子监测和新疗法.
科学领域:
- 血液学 血液学 血液学
- 在瘤学瘤学.
- 遗传学 遗传学 是一个
背景情况:
- 皮卡尔姆:MLLT10阳性T细胞急性淋巴细胞白血病 (T-ALL) 是一种罕见的亚型,预后不佳.
- 从T-ALL转变为急性髓性白血病 (AML) 的血统切换是非常罕见的,特别是在实现长期缓解后.
研究的目的:
- 报告一个罕见的青少年PICALM::MLLT10-阳性T-ALL.
- 描述6年缓解后血统切换到AML的不寻常事件.
- 为了研究这种转变的遗传基础.
主要方法:
- 一名患有PICALM::MLLT10阳性T-ALL.的青少年患者的病例报告.
- 详细的细胞遗传分析包括del5q,del17p和17q增益.
- 进行全面的突变分析,以识别遗传变异.
主要成果:
- 患者完全康复,但6年后复发为AML.
- 细胞遗传学分析揭示了特定的染色体异常.
- 突变分析确定了NF1,EZH2,SMC1A和PHF6中获得的突变,这表明了克隆进化.
结论:
- 耐治疗的PICALM::MLLT10祖先可以持续存在并经历AML的血统转换.
- 基因病变的顺序获取驱动着克隆进化.
- 强调对这种罕见的转变需要进行分子监测和新的治疗策略.
相关概念视频
The Evidence for Evolution
47.9K
Genetic variations accumulating within populations over generations give rise to biological evolution. Evolutionary changes can result in the formation of novel varieties and entire new species. These changes are responsible for the diverse forms of life inhabiting the planet. The evidence for evolution suggests that all living organisms descended from common ancestors.
47.9K
Acute Pharyngitis
4.1K
Introduction
Acute pharyngitis is the inflammation of the back of the throat (pharynx), commonly resulting in a sore throat. It is a frequently encountered condition that prompts individuals to seek medical advice.
Classification
Acute pharyngitis can be categorized based on its underlying cause:
Acute pharyngitis is the inflammation of the back of the throat (pharynx), commonly resulting in a sore throat. It is a frequently encountered condition that prompts individuals to seek medical advice.
Classification
Acute pharyngitis can be categorized based on its underlying cause:
4.1K
Acute Pancreatitis I: Introduction
1.2K
Pancreatitis is inflammation of the pancreas, an organ located behind the stomach. It can be either acute or chronic.
Acute pancreatitis is characterized by rapid inflammation of the pancreas, often caused by factors like gallstone blockage or excessive alcohol consumption. Chronic pancreatitis, on the other hand, is a slow, progressive inflammation that may result from long-term alcohol abuse, obstructions in the pancreatic duct, or genetic factors.
The causes of acute pancreatitis include:
Acute pancreatitis is characterized by rapid inflammation of the pancreas, often caused by factors like gallstone blockage or excessive alcohol consumption. Chronic pancreatitis, on the other hand, is a slow, progressive inflammation that may result from long-term alcohol abuse, obstructions in the pancreatic duct, or genetic factors.
The causes of acute pancreatitis include:
1.2K
Acute Respiratory Failure-I
968
Acute respiratory failure is a condition characterized by the inability of the lungs to perform their primary function: gas exchange. This failure leads to insufficient oxygen levels (hypoxemia) in the blood, elevated carbon dioxide levels (hypercapnia), or both, causing critical impairment in organ function.
Definition: It is defined by specific criteria based on blood gas measurements. Hypoxemia happens when the partial pressure of oxygen (PaO2) falls below 60 mmHg. At the same time,...
Definition: It is defined by specific criteria based on blood gas measurements. Hypoxemia happens when the partial pressure of oxygen (PaO2) falls below 60 mmHg. At the same time,...
968
Acute Respiratory Failure-II
1.1K
Type I Respiratory Failure, or hypoxemic respiratory failure, occurs when the partial pressure of oxygen (PaO2) in arterial blood falls below 60 mmHg while breathing room air without a corresponding increase in arterial carbon dioxide levels (PaCO2). This condition highlights a significant impairment in the lungs' capacity to oxygenate the blood.
The underlying physiological abnormalities that contribute to hypoxemic respiratory failure include:
The underlying physiological abnormalities that contribute to hypoxemic respiratory failure include:
1.1K
Acute Respiratory Failure-V
492
The treatment for acute respiratory failure varies based on factors like the underlying cause, overall health, and severity. A collaborative healthcare team is essential for early detection, often through arterial blood gas analysis. Identifying the cause is the primary goal, with treatment strategies adjusted for ventilation/perfusion (V/Q) mismatch, shunting, or diffusion impairment.
Ensure that patients are monitored continuously for their response to therapy, including changes in...
Ensure that patients are monitored continuously for their response to therapy, including changes in...
492


