Comprehensive Cancer Genomic Profiling of Liver Metastasis Led to the Unexpected Identification of Colorectal Cancer

Hideaki Miyamoto; Fumi Kawakami; Sakiko Abe; Hiroki Sugita; Hirotaka Matsui

doi:10.2169/internalmedicine.1845-23

CASE REPORTS

Comprehensive Cancer Genomic Profiling of Liver Metastasis Led to the Unexpected Identification of Colorectal Cancer

Hideaki Miyamoto, Fumi Kawakami, Sakiko Abe, Hiroki Sugita, Hirotaka Matsui

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Keywords: APC mutation, cholangiocarcinoma, colorectal cancer, comprehensive genomic profiling test, FBXW7 mutation

JOURNAL OPEN ACCESS

2024 Volume 63 Issue 1 Pages 63-70

DOI https://doi.org/10.2169/internalmedicine.1845-23

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Abstract

Comprehensive genomic profiling (CGP) of a metastatic liver tumor biopsy specimen suggested that the patient, who was initially diagnosed with cholangiocarcinoma, had colorectal cancer. The identification of both FBXW7 and APC mutations is deemed characteristic of colorectal cancer. Indeed, subsequent colonoscopy revealed sigmoid colon carcinoma that led to tumor resection followed by systemic chemotherapy. CGP is principally used to identify agents that might potentially benefit the patient. However, results must be interpreted carefully to ensure consistency with the initial diagnosis.

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