相关实验视频

Updated: Jan 16, 2026

Targeted RNA Sequencing Assay to Characterize Gene Expression and Genomic Alterations

Targeted RNA Sequencing Assay to Characterize Gene Expression and Genomic Alterations

Published on: August 4, 2016

来自PTEN hamartoma瘤综合征患者甲状腺瘤的向RNA测序揭示了一个独特的转录组,主要具有RAS类表达特征

Gilman Plitt¹, Takae Mitzukami², Lamis Yehia³

¹Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, OH; Digestive Disease and Surgery Institute, Cleveland Clinic, Cleveland, OH; Cleveland Clinic Lerner College of Medicine of Case Western Reserve University School of Medicine, Cleveland, OH.

|September 30, 2025

概括

患有PTEN hamartoma瘤综合征的患者会发展出具有RAS类表达特征的甲状腺瘤. 这与PI3K/AKT/mTOR途径失调和PTEN无活化有关,促进毛囊癌的发展.

科学领域:

内分泌学在内分泌学.
在瘤学瘤学.
遗传学遗传学是一个

背景情况:

差异化甲状腺癌通常是由单一的致癌驱动因素引起的.
PTEN hamartoma瘤综合征 (PHTS) 赋予了对甲状腺癌和腺瘤结节的倾向.
PHTS提供了一个模型来研究基线PI3K/AKT/mTOR路径失调的甲状腺癌发生.

研究的目的:

为了研究PHTS患者甲状腺瘤的分子特征.
为了比较不同甲状腺瘤亚型和背景组织的基因表达特征.
阐明PTEN改变在PHTS内的甲状腺瘤发生中的作用.

主要方法:

甲状腺癌,腺瘤结节和PHTS患者的背景组织的RNA测序和差异表达分析.
在整个组织学亚型中计算和比较BRAF^V600E-RAS得分.
整合RNA测序数据与以前发表的外基因组测序数据.

主要成果:

确定了三个不同的表达集群:乳头架构瘤,卵泡架构瘤和背景甲状腺组织.
大多数与PHTS相关的甲状腺癌 (65.4%) 呈现出类似RAS的表达特征.
毛囊架构癌症主要类似于RAS,并与双性PTEN变化相关,而乳头癌则类似于BRAF.

结论:

在PHTS中的甲状腺瘤主要表现出类似RAS的表达特征,由PI3K/AKT/mTOR通路调节失调驱动.
基线PTEN失调和随后的双性失活促进毛囊腺瘤生长和恶性转变.
进一步了解PHTS中的瘤进展对于改善诊断,监测和治疗策略至关重要.

更多相关视频

In Vivo Inhibition of MicroRNA to Decrease Tumor Growth in Mice

In Vivo Inhibition of MicroRNA to Decrease Tumor Growth in Mice

Published on: August 23, 2019

Comparative Lesions Analysis Through a Targeted Sequencing Approach

Comparative Lesions Analysis Through a Targeted Sequencing Approach

Published on: November 5, 2019

相关概念视频

lncRNA - Long Non-coding RNAs

lncRNA - Long Non-coding RNAs

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...

The Ras Gene

The Ras Gene

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...

Abnormal Proliferation

Abnormal Proliferation

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...

Targeted Cancer Therapies

Targeted Cancer Therapies

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...