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Updated: Jan 24, 2026

Injection of Syngeneic Murine Melanoma Cells to Determine Their Metastatic Potential in the Lungs

Injection of Syngeneic Murine Melanoma Cells to Determine Their Metastatic Potential in the Lungs

Published on: May 24, 2016

転移性黒色腫における腫瘍変異負荷とネオアンチゲンプロファイリングによる免疫療法反応の予測

Yizhe Mao^1,2,3, Tuba N Gide^1,2,3, Nigel G Maher^1,2,3,4

¹Melanoma Institute Australia, The University of Sydney, Sydney, NSW, Australia.

NPJ precision oncology

|January 22, 2026

Abstract:

Tumour mutation burden (TMB) is a promising biomarker in predicting immunotherapy response, yet its reproducibility across target panels needs to be established. This study assessed the reproducibility of TMB estimates in melanoma using TruSight Oncology 500 across two laboratories and compared these results with the FoundationOne CDx and QIAseq TMB IO panels. High concordances in TMB estimation, mutation calls, and BRAF and N/K/HRAS hotspot variants were observed between platforms. In a cohort of 198 pre-treatment biopsies from patients treated with immune checkpoint inhibitors, high TMB (≥10 mut/Mb) was associated with significantly improved response and progression-free survival (PFS), while somatic mutations in PTPRD and a germline variant in PIK3CA (I391M) were associated with favourable outcomes independent of TMB. Neoantigen profiling of 135 samples demonstrated that neoantigen load, particularly neoepitopes with strong-binding to class II MHC, had a superior predictive value over TMB for PFS. Mutations in NF1 and ROS1 that produce a neoantigen were also linked to improved outcomes. These results support the reproducibility of TMB estimation and highlight the added value of neoantigen profiling in predicting immunotherapy benefits in melanoma.

キーワード:

腫瘍変異負荷ネオアンチゲン黒色腫免疫療法予測因子

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Experimental Melanoma Immunotherapy Model Using Tumor Vaccination with a Hematopoietic Cytokine

Experimental Melanoma Immunotherapy Model Using Tumor Vaccination with a Hematopoietic Cytokine

Published on: February 24, 2023

Combined Use of Tail Vein Metastasis Assays and Real-Time In Vivo Imaging to Quantify Breast Cancer Metastatic Colonization and Burden in the Lungs

Combined Use of Tail Vein Metastasis Assays and Real-Time In Vivo Imaging to Quantify Breast Cancer Metastatic Colonization and Burden in the Lungs

Published on: December 19, 2019

関連する概念動画

Mutations

Mutations

Mutations

Mutations

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...

Tumor Immunotherapy

Tumor Immunotherapy

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.

Viral Mutations

Viral Mutations

A mutation is a change in the sequence of bases of DNA or RNA in a genome. Some mutations occur during replication of the genome due to errors made by the polymerase enzymes that replicate DNA or RNA. Unlike DNA polymerase, RNA polymerase is prone to errors because it is not capable of “proofreading” its work. Viruses with RNA-based genomes, like HIV, therefore accrue mutations faster than viruses with DNA-based genomes. Because mutation and recombination provide the raw material...

Predicting Molecular Geometry

Predicting Molecular Geometry

VSEPR Theory for Determination of Electron Pair Geometries

Mutation, Gene Flow, and Genetic Drift

Mutation, Gene Flow, and Genetic Drift

In a population that is not at Hardy-Weinberg equilibrium, the frequency of alleles changes over time. Therefore, any deviations from the five conditions of Hardy-Weinberg equilibrium can alter the genetic variation of a given population. Conditions that change the genetic variability of a population include mutations, natural selection, non-random mating, gene flow, and genetic drift (small population size).