一位携带BCR::ABL1拼接变异的CML患者在15年内没有经历爆发危机,没有对各种TKI作出反应
Fumi Nakamura1, Ko Sasaki1, Yasuhito Nannya2,3
1Department of Hematology and Oncology, Dokkyo Medical University, Japan.
Internal medicine (Tokyo, Japan)
|August 28, 2024
概括
这项研究详细介绍了一名慢性髓性白血病 (CML) 患者.
科学领域:
- 血液学 血液学 血液学
- 在瘤学瘤学.
- 分子生物学分子生物学
背景情况:
- 慢性髓性白血病 (CML) 是一种骨髓增殖性瘤.
- 氨酸激酶抑制剂 (TKI) 是标准的CML治疗方法.
- 治疗耐药性可能源于ABL1.1中的遗传变异.
研究的目的:
- 报告一种独特的CML治疗耐药性的病例.
- 研究CML中TKI耐药性的分子机制.
- 分析ABL1拼接变体对治疗结果的影响.
主要方法:
- 连续使用意马替尼,达萨替尼,尼洛替尼和波纳替尼进行治疗.
- 基因分析包括ABL1突变查和染色体研究.
- 检测ABL1删除和插入变体.
主要成果:
- 患者只获得了对尼洛尼基的部分细胞遗传反应.
- 确定了ABL1删除 (氨基酸残留184-274) 和插入变体.
- 患者在诊断后15年因无关原因死亡,没有爆发危机进展.
结论:
- 一种新的ABL1拼接变种可能导致了治疗耐药性.
- 功能丧失的ABL1变种可能可以防止爆发危机.
- 这一案例凸显了CML分子病理学和治疗反应的复杂性.
相关概念视频
Targeted Cancer Therapies
7.5K
The targeted cancer therapies, also known as “molecular targeted therapies,” take advantage of the molecular and genetic differences between the cancer cells and the normal cells. It needs a thorough understanding of the cancer cells to develop drugs that can target specific molecular aspects that drive the growth, progression, and spread of cancer cells without affecting the growth and survival of other normal cells in the body.
There are several types of targeted therapies against...
There are several types of targeted therapies against...
7.5K
Combination Therapies and Personalized Medicine
4.9K
Combining two or more treatment methods increases the life span of cancer patients while reducing damage to vital organs or tissue from the overuse of a single treatment. Combination therapy also targets different cancer-inducing pathways, thus reducing the chances of developing resistance to treatment.
The combination of the drug acetazolamide and sulforaphane is a good example of combination therapy to treat cancer. The cells in the interior of a large tumor often die due to the hypoxic and...
The combination of the drug acetazolamide and sulforaphane is a good example of combination therapy to treat cancer. The cells in the interior of a large tumor often die due to the hypoxic and...
4.9K
Cancer Stem Cells and Tumor Maintenance
4.9K
Early diagnosis and treatment can often cure cancer. However, even with treatment, residual cells called cancer stem cells (CSC) might remain, often causing tumor recurrence. These cancer stem cells possess the potential for self-renewal and multi-lineage differentiation and are often responsible for the therapeutic resistance displayed in most cancers.
Cancer stem cells are thought to originate from tissue-specific normal stem cells or progenitor cells. The normal stem cells usually reside in...
Cancer stem cells are thought to originate from tissue-specific normal stem cells or progenitor cells. The normal stem cells usually reside in...
4.9K
Treatment Resistant Cancers
3.3K
Cancer is the second leading cause of death in the United States. A cancer cell is genetically unstable and hence can mutate faster. They can also modify their microenvironment and escape immune surveillance. The difficulties in treating cancer are further compounded by the emergence of rapid resistance to anticancer drugs. The most common ways to attain resistance in cancer cells include alteration in drug transport and metabolism, modification of drug target, elevated DNA damage response, or...
3.3K


