鼻状瘤中的EGFR突变:对外显子20插入的新热点
Kirti Srivastava1, Kavneet Kaur1, Hitesh Verma2
1Department of Pathology, All India Institute of Medical Sciences, New Delhi, 110029, India.
Virchows Archiv : an international journal of pathology
|March 13, 2025
概括
皮表皮生长因子受体 (EGFR) 突变在鼻腔状瘤中很常见,包括逆向乳头瘤和状细胞癌. 这些突变,特别是在外显子20中,在瘤发育中显著.
科学领域:
- 在瘤学瘤学.
- 病理学 病理学 病理学
- 遗传学 遗传学是一种遗传学.
背景情况:
- 鼻状瘤,包括倒置乳头瘤 (IP) 和状细胞癌 (SCC),可能通过涉及EGFR突变或高风险 (HR) HPV的独特途径出现.
- 在印度患者中,HR-HPV关联是罕见的,在这些鼻瘤中对EGFR突变的数据有限.
研究的目的:
- 为了调查EGFR外基因组19和20突变的流行率和模式,在sinonasal状瘤中.
- 探索EGFR突变与HR-HPV和低风险 (LR) -HPV在这些瘤中的关联.
主要方法:
- 对111种鼻腔状瘤 (48个IP,15个IP-SCC,48个de novoSCC) 进行EGFR外19和20突变的分析.
- 通过p16免疫组织化学和mRNA in situ杂交 (ISH) 来检测HR-HPV.
- 在EGFR野生型病例上进行的LR-HPV mRNA ISH.
主要成果:
- 在59%的IP,40%的IP-SCC和35%的新发SCC病例中发现了EGFR突变.
- EGFR突变与鼻腔位置和非质化组织学有关.
- 确定了EGFR外基子20插入的新型热点;在一个EGFR突变的SCC中检测到HR-HPV.
结论:
- EGFR突变,特别是新型热点上的外显子20插入,在阴鼻状瘤中普遍存在,并且可能在它们的发病过程中发挥关键作用.
- EGFR突变和HR-HPV的相互排他性可能不适用于所有情况下.
相关概念视频
Rous Sarcoma Virus (RSV) and Cancer
4.9K
Rous Sarcoma virus or RSV was discovered by F. Peyton Rous in the year 1911 as a filterable transmissible agent that could cause tumors in chickens. He won a Nobel Prize for this discovery in 1966. His experiments clearly demonstrated that some cancers could be caused by infectious agents and led to the discovery of many more cancer-causing viruses in animals as well as humans.
RSV is a retrovirus that contains two copies of a plus-strand RNA genome. Its genome consists of four main open...
RSV is a retrovirus that contains two copies of a plus-strand RNA genome. Its genome consists of four main open...
4.9K
The Ras Gene
6.1K
The Ras-gene-encoded proteins are regulators of signaling pathways controlling cell proliferation, differentiation, or cell survival. The Ras-gene family in humans constitutes three primary members—the HRas, NRas, and KRas. These genes code for four functionally distinct yet closely related proteins—the HRas, NRas, KRas4A, and KRas4B. The involvement of mutant Ras genes in human cancer was first discovered in 1982 and is among the most common causes of human tumorigenesis.
Ras is a...
Ras is a...
6.1K
Mitogens and the Cell Cycle
6.4K
Mitogens and their receptors play a crucial role in controlling the progression of the cell cycle. However, the loss of mitogenic control over cell division leads to tumor formation. Therefore, mitogens and mitogen receptors play an important role in cancer research. For instance, the epidermal growth factor (EGF) - a type of mitogen and its transmembrane receptor (EGFR), decides the fate of the cell's proliferation. When EGF binds to EGFR, a member of the ErbB family of tyrosine kinase...
6.4K
lncRNA - Long Non-coding RNAs
8.4K
In humans, more than 80% of the genome gets transcribed. However, only around 2% of the genome codes for proteins. The remaining part produces non-coding RNAs which includes ribosomal RNAs, transfer RNAs, telomerase RNAs, and regulatory RNAs, among other types. A large number of regulatory non-coding RNAs have been classified into two groups depending upon their length – small non-coding RNAs, such as microRNA, which are less than 200 nucleotides in length, and long non-coding RNA...
8.4K
Abnormal Proliferation
4.4K
Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the...
4.4K
Non-LTR Retrotransposons
11.3K
As the name suggests, non-LTR retrotransposons lack the long terminal repeats characteristic of the LTR retrotransposons. Additionally, both LTR and non-LTR retrotransposons use distinct mechanisms of mobilization. Non-LTR retrotransposons are further divided into two classes - Long interspersed nuclear elements (LINEs) and short interspersed nuclear elements (SINEs), both of which occur abundantly in most mammals, including humans. Some of the active non-LTR retrotransposons in humans are L1...
11.3K


