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Updated: Jan 28, 2026

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Responsiveness to PD-1 Blockade in End-Stage Colon Cancer with Gene Locus 9p24.1 Copy-Number Gain

Anne Hansen Ree1,2, Vigdis Nygaard3, Hege G Russnes4,5

  • 1Department of Oncology, Akershus University Hospital, Lørenskog, Norway. a.h.ree@medisin.uio.no.

Cancer Immunology Research
|February 27, 2019
PubMed

Insights

A rare 9p24.1 copy-number gain (CNG) mutation in colorectal cancer unexpectedly responded to immune checkpoint blockade (ICB). This finding offers hope for previously untreatable metastatic cancers.

Area of Science:

  • Oncology
  • Genetics
  • Immunotherapy

Background:

  • Most metastatic colorectal cancers do not respond to immune therapies.
  • Immune checkpoint blockade (ICB) is a promising cancer treatment, but efficacy is limited in certain tumor types.

Observation:

  • A patient with incurable colorectal cancer and a rare 9p24.1 copy-number gain (CNG) mutation was treated with ICB (pembrolizumab).
  • Gene-panel sequencing identified the 9p24.1 CNG in a liver metastasis biopsy.
  • High-resolution RNA sequencing revealed a phenotypic shift in the tumor from epithelial to an inflamed microenvironment post-treatment.

Findings:

  • The patient experienced a durable partial radiographic response to ICB.
  • Circulating tumor DNA levels decreased significantly after initiating therapy.
  • The 9p24.1 CNG mutation was associated with a positive response to immunotherapy.

Implications:

  • The 9p24.1 CNG mutation may serve as a predictive biomarker for ICB response in solid tumors.
  • This case supports the potential use of histology-agnostic ICB for tumors harboring this rare genetic alteration.
  • Further research is warranted to explore the therapeutic potential of targeting 9p24.1 CNG in cancer treatment.

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