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Cancer Immunol Res. 2019 Feb 25. pii: canimm.0777.2018. doi: 10.1158/2326-6066.CIR-18-0777. [Epub ahead of print]

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

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Oncology, Akershus University Hospital
Dept. of Tumor Biology, Institute for Cancer Research, The Norwegian Radium Hospital, Oslo University Hospital.
Institute for Cancer Research, Oslo University Hospital Radiumhospitalet.
Oncology, Akershus University Hospital.
Oslo University Hospital.
Cancer Genetics, Oslo University Hospital.
Department of Tumor Biology, Institute of Cancer Research.
Department of Pathology, Oslo University Hospital Radiumhospitalet and Institute of Clinical Medicine, Medical Faculty, University of Oslo.
Department of Radiology, Akershus University Hospital.
Gastroenterological Surgery, Oslo University Hospital.
Tumor Biology, Norwegian Radium Hospital, Oslo University Hospital.


Most patients whose large bowel cancer has spread to other organs do not respond to immune therapy. We detected a rare gene mutation, termed 9p24.1 copy-number gain, in an otherwise incurable colorectal cancer that provoked an immune therapy response. We identified this gene mutation by gene-panel sequencing of DNA from a liver metastasis biopsy from a patient who had disease refractory to standard therapies. Following immune checkpoint blockade with pembrolizumab (anti-PD-1), the patient experienced conversion of the tumor phenotype from one with epithelial features to that of an inflamed microenvironment, detected by high-resolution RNA sequencing. Circulating tumor DNA disappeared over the first weeks of therapy. As assessed by standard radiographic measurement, the patient had a partial response that was durable. This patient's response may support the use of histology-agnostic immune checkpoint blockade in solid tumors that carry the rare 9p24.1 copy-number gain.

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