在结直肠瘤发生过程中,APC突变发生在早期
S M Powell1, N Zilz, Y Beazer-Barclay
1Johns Hopkins Oncology Center, Baltimore, Maryland 21231-1001.
Nature
|September 17, 1992
概括
腺多样性肠杆菌 (APC) 基因的突变对于启动人类结直肠瘤至关重要. 这些APC基因突变存在于早期腺瘤中,并在整个瘤进展过程中持续存在.
科学领域:
- 在瘤学瘤学.
- 分子生物学分子生物学
- 遗传学 是一个遗传学.
背景情况:
- 人类瘤生成涉及瘤基因和瘤抑制基因的突变.
- 对于常见的成人癌症而言,关键的早期突变在很大程度上仍未被定义.
研究的目的:
- 调查腺瘤多样性肠杆菌 (APC) 基因突变在人类结直肠瘤早期发展中的作用.
- 为了确定APC基因突变是否是瘤发生的关键发起事件.
主要方法:
- 对41个人类结直肠瘤 (腺瘤和癌瘤) 的序列分析.
- 在不同的瘤阶段和大小中评估APC基因突变的存在.
主要成果:
- 大多数结直肠癌 (60%) 和腺瘤 (63%) 携带了突变的APC基因.
- 在最早可检测的瘤中发现了APC基因突变,包括小腺瘤 (0.5厘米).
- 在从良性到恶性阶段的瘤进展过程中,APC基因的突变频率保持一致.
结论:
- 在APC基因中的突变在结直肠瘤的发病中起着重要作用.
- APC基因突变是人类结直肠癌发展的早期和关键事件.
相关概念视频
Cancers Originate from Somatic Mutations in a Single Cell
Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
Tumor Progression
Tumor progression is a phenomenon where the pre-formed tumor acquires successive mutations to become clinically more aggressive and malignant. In the 1950s, Foulds first described the stepwise progression of cancer cells through successive stages.
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...
Metastasis
Metastasis is the spread of cancer cells from the original site to distant locations in the body. Cancer cells can spread via blood vessels (hematogenous) as well as lymph vessels in the body.
Epithelial-to-Mesenchymal Transition
The epithelial-to-mesenchymal transition or EMT is a developmental process commonly observed in wound healing, embryogenesis, and cancer metastasis. EMT is induced by transforming growth factor-beta (TGF-β) or receptor tyrosine kinase (RTK) ligands, which further...
Epithelial-to-Mesenchymal Transition
The epithelial-to-mesenchymal transition or EMT is a developmental process commonly observed in wound healing, embryogenesis, and cancer metastasis. EMT is induced by transforming growth factor-beta (TGF-β) or receptor tyrosine kinase (RTK) ligands, which further...
Appendicitis-I: Introduction
The appendix, a small, narrow, blind tube extending from the inferior part of the cecum, is widely regarded as a vestigial organ, having lost much of its original function through evolution. Despite its diminished role, the appendix can become inflamed, a condition known as appendicitis.
Etiology: Appendicitis can arise from various causes, primarily rooted in the obstruction of the appendix lumen. Factors contributing to this obstruction include fecal accumulation, lymphoid hyperplasia and, in...
Etiology: Appendicitis can arise from various causes, primarily rooted in the obstruction of the appendix lumen. Factors contributing to this obstruction include fecal accumulation, lymphoid hyperplasia and, in...
Appendicitis
Appendicitis is an acute inflammatory condition of the vermiform appendix, most commonly caused by obstruction of its lumen. The appendix is a narrow, blind-ended pouch that extends from the cecum, making it particularly prone to obstruction. Causes include fecaliths, lymphoid hyperplasia (often after viral infections), parasites, tumors, or foreign bodies. This obstruction initiates a cascade of pathological changes.Luminal Obstruction and Early InflammationAfter obstruction, normal mucosal...
Acute Pancreatitis I: Introduction
Acute pancreatitis is the sudden inflammation of the pancreas caused by the early activation of digestive enzymes, leading to the autodigestion of pancreatic tissue. This results in local inflammation and, in severe cases, systemic complications.EtiologyUnderstanding the underlying causes is crucial, as identifying the etiology guides treatment and anticipates complications. Acute pancreatitis can be triggered by various factors, typically grouped into the following clinical categories.Biliary...


