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相关概念视频

Cancers Originate from Somatic Mutations in a Single Cell02:21

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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...
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Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
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Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
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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.
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Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
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相互排斥的驱动突变在碰撞瘤中识别了2个独立的初级,最初被解释为具有瘤异质性的单一肺腺癌.

Mary M Torrez1, Khalil Sheibani2, Mohammad A Vasef1

  • 1Department of Pathology, University of New Mexico, Albuquerque, NM, USA.

Respiratory medicine case reports
|February 2, 2024
PubMed
概括
此摘要是机器生成的。

从单个瘤区分碰撞瘤可能是一个挑战. 这一案例凸显了下一代测序如何在一个活检中识别出两个不同的初级肺癌,此前被误认为是瘤异质.

关键词:
碰撞/同步瘤的发生.在EGFR的突变中.在KRAS突变中发生突变.肺部腺癌瘤是肺部腺癌.分子形状的分子形状.非小细胞肺癌是什么?

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科学领域:

  • 在瘤学瘤学.
  • 病理学 病理学 病理学
  • 基因组学就是基因组学.

背景情况:

  • 从多个碰撞瘤中区分一个具有异质组织学的单一原发性瘤是外科病理学的诊断挑战.
  • 瘤内的组织学变异通常被错误地归因于瘤异质性,特别是在小型活检中.

研究的目的:

  • 要突出诊断的挑战在区分单个异质瘤与碰撞瘤.
  • 报告一个先进的分子技术在一个活检中发现了两个不同的初级肺癌的案例.

主要方法:

  • 肺部质量活检的组织病理学检查.
  • 下一代测序 (NGS) 用于瘤DNA的分子分析.

主要成果:

  • 肺部质量活检显示腺癌具有良好和中度差异化的组成部分.
  • NGS分析证实,在相同的活检样本内,存在两个不同的原发性肺癌来源.

结论:

  • 活检中的组织学异质性可以掩盖多个不同的原发性瘤的存在.
  • 下一代测序对于疑似瘤异质性的复杂病例的准确诊断至关重要,能够精确识别多个初级病例.