Evidence map›Paper›PMID 41571736›Full record

ArticleNPJ precision oncology2026

Prospective tumour mutation burden and neoantigen profiling predicts immunotherapy response in metastatic melanoma.

Yizhe Mao, Tuba N Gide, Nigel G Maher, Danielle Vignati, Andrea Boutros, Paola Cornejo-Páramo, Alison J Potter, Matteo S Carlino, Elizabeth C Paver, Hazel Burke and 7 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in NPJ precision oncology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

4 citing papers in PubMed.

  1. Trial
  2. Article
  3. Review
  4. MYC as a key target for melanoma therapy.Frontiers in cell and developmental biology · 2026
    Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

17 authors.

Yizhe MaoMelanoma Institute Australia, The University of Sydney, Sydney, NSW, Australia.
Tuba N GideMelanoma Institute Australia, The University of Sydney, Sydney, NSW, Australia.
Nigel G MaherMelanoma Institute Australia, The University of Sydney, Sydney, NSW, Australia.
Danielle VignatiMelanoma Institute Australia, The University of Sydney, Sydney, NSW, Australia.
Andrea BoutrosMelanoma Institute Australia, The University of Sydney, Sydney, NSW, Australia.
Paola Cornejo-PáramoMelanoma Institute Australia, The University of Sydney, Sydney, NSW, Australia.
Alison J PotterRoyal Prince Alfred Hospital and NSW Health Pathology, Sydney, NSW, Australia.
Matteo S CarlinoMelanoma Institute Australia, The University of Sydney, Sydney, NSW, Australia.
Elizabeth C PaverMelanoma Institute Australia, The University of Sydney, Sydney, NSW, Australia.
Hazel BurkeMelanoma Institute Australia, The University of Sydney, Sydney, NSW, Australia.
Alexander M MenziesMelanoma Institute Australia, The University of Sydney, Sydney, NSW, Australia.
Serigne N LoMelanoma Institute Australia, The University of Sydney, Sydney, NSW, Australia.
Inês Pires da SilvaMelanoma Institute Australia, The University of Sydney, Sydney, NSW, Australia.
Richard A Scolyer *Melanoma Institute Australia, The University of Sydney, Sydney, NSW, Australia.
Georgina V Long *Melanoma Institute Australia, The University of Sydney, Sydney, NSW, Australia.
Ismael A Vergara *Melanoma Institute Australia, The University of Sydney, Sydney, NSW, Australia.
James S Wilmott *Melanoma Institute Australia, The University of Sydney, Sydney, NSW, Australia. james.wilmott@sydney.edu.au.

Funding

CINSW Translational Program Grant TPG 2021/TPG2114NHMRC Investigator Grant APP1174325
6 · The paper itself

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.

Identifiers

PMID41571736
PMCPMC12877020

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.