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Tumor Immunotherapy01:27

Tumor Immunotherapy

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Immunotherapy is a treatment that boosts or manipulates the immune system to fight diseases, including cancer. For instance, by stimulating an immune response through vaccinations against viruses that cause cancers, like hepatitis B virus and human papillomavirus, these diseases can be prevented. Nonetheless, some cancer cells can avoid the immune system due to their rapid mutation and division. The immune response to many cancers involves three phases: elimination, equilibrium, and escape.
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mTOR Signaling and Cancer Progression03:03

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The mammalian target of rapamycin or mTOR protein was discovered in 1994 due to its direct interaction with rapamycin. The protein gets its name from a yeast homolog called TOR. The mTOR protein complex in mammalian cells plays a major role in balancing anabolic processes such as the synthesis of proteins, lipids, and nucleotides and catabolic processes, such as autophagy in response to environmental cues, such as availability of nutrients and growth factors.
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Cancer-Critical Genes II: Tumor Suppressor Genes01:05

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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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Cancer02:18

Cancer

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Cancers arise due to mutations in genes involved in the regulation of cell division, which leads to unrestricted cell proliferation. Modern science and medicine have made great strides in the understanding and treatment of cancer, including eradicating cancer in some patients. However, there is still no cure for cancer. This is largely due to the fact that cancer is a large group of many diseases.
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Related Experiment Video

Updated: Nov 26, 2025

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
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Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

Published on: September 20, 2016

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KMT2A/C mutations function as a potential predictive biomarker for immunotherapy in solid tumors.

Rui Zhang1, Hao-Xiang Wu2, Ming Xu1

  • 1Department of Medical Ultrasound, Division of Interventional Ultrasound, The First Affiliated Hospital, Sun Yat-sen University, No. 58 Zhongshan 2nd Road, Guangzhou, 510080, China.

Biomarker Research
|December 10, 2020
PubMed
Summary
This summary is machine-generated.

Mutations in Histone-lysine N-methyltransferase 2 (KMT2) genes are linked to better outcomes for patients receiving immune checkpoint inhibitors (ICI). These KMT2A/C mutations may serve as predictive biomarkers for immunotherapy response in various solid tumors.

Keywords:
BiomarkerImmune checkpoint inhibitorsKMT2A/CPan-cancer analysis

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Area of Science:

  • Oncology
  • Immunology
  • Epigenetics

Background:

  • Epigenetic modifications, including histone methylation by Histone-lysine N-methyltransferase 2 (KMT2) family genes, are crucial in tumor immunology.
  • The specific role of KMT2 gene mutations in predicting response to immune checkpoint inhibitors (ICI) remains largely unexplored.

Discussion:

  • This study investigates the association between KMT2 gene mutations and clinical benefits from ICI therapy.
  • Findings indicate that KMT2A/C mutations correlate with improved progression-free survival (PFS), objective response rate (ORR), durable clinical benefit (DCB), and overall survival (OS) in ICI-treated patients.
  • These results were validated in a larger cohort, reinforcing the predictive value of KMT2A/C mutations across diverse cancer subtypes.

Key Insights:

  • KMT2A/C mutations are associated with significantly better PFS, ORR, DCB, and OS in patients undergoing ICI treatment.
  • The predictive potential of KMT2A/C mutations was confirmed in an independent, larger cohort of ICI-treated individuals.
  • Patients with KMT2A/C mutations demonstrated superior OS compared to those with wildtype KMT2A/C, with benefits observed across most solid tumor types.

Outlook:

  • KMT2A/C mutations represent a promising novel predictive biomarker for ICI therapy in multiple solid tumors.
  • Further research into the underlying mechanisms driving the positive association between KMT2A/C mutations and immunotherapy response is warranted.