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A case of unresectable intrahepatic cholangiocarcinoma with a germline BRCA1 mutation

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Abstract

Intrahepatic cholangiocarcinoma (ICC) is a malignant liver tumor with poor prognosis. Various mutations in cancer-predisposing genes have been reported in ICC, and germline BRCA1/2 mutations, which are the causative genes for hereditary breast and ovarian cancer syndrome (HBOC), have been reported in many patients with ICC. Here, we report a case of unresectable ICC with a germline BRCA1 mutation. A 73-year-old man was found to have a mass in the left lobe of the liver on abdominal ultrasonography during a medical check-up and was referred to our institution. Contrast-enhanced computed tomography revealed a 30-mm mass with a delayed enhancement pattern, tumor invasion into the major blood vessels, and enlarged regional lymph nodes. Ultrasound-guided percutaneous tumor biopsy revealed a well-differentiated adenocarcinoma, and the patient was diagnosed with clinical Stage IIIB ICC. Systemic chemotherapy with gemcitabine and cisplatin was initiated because of the unresectable nature of the disease. Regarding family history, his eldest daughter was diagnosed with HBOC with a germline BRCA1 mutation at the time of breast cancer surgery, and she developed pancreatic cancer seven years later. The patient underwent BRCA1 single-site analysis and was diagnosed with HBOC with a germline BRCA1 mutation.

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Acknowledgements

The authors would like to thank Dr. T. Hinoi (Department of Clinical and Molecular Genetics, Hiroshima University Hospital) for his valuable comments about the family pedigree editing and Editage (www.editage.jp) for English language editing.

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Authors and Affiliations

  1. Department of Gastroenterology, Graduate School of Biomedical and Health Sciences, Hiroshima University, 1-2-3 Kasumi, Minami-Ku, Hiroshima, 734-8551, Japan

    Yumiko Yamashita, Yasutaka Ishii, Masahiro Serikawa, Tomofumi Tsuboi, Yumiko Tatsukawa, Shinya Nakamura, Tetsuro Hirano, Juri Ikemoto & Shiro Oka

  2. Cancer Treatment Center, Hiroshima University Hospital, Hiroshima, Japan

    Wataru Okamoto

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  1. Yumiko Yamashita
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  2. Yasutaka Ishii
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  5. Tomofumi Tsuboi
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Correspondence to Yasutaka Ishii.

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All procedures were performed in accordance with the ethical standards laid down in the 1964 Declaration of Helsinki and its amendments.

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Yamashita, Y., Ishii, Y., Serikawa, M. et al. A case of unresectable intrahepatic cholangiocarcinoma with a germline BRCA1 mutation. Clin J Gastroenterol 16, 470–475 (2023). https://doi.org/10.1007/s12328-023-01772-3

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  • DOI: https://doi.org/10.1007/s12328-023-01772-3

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