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Thirty-six-year-old woman with a liver mass: diagnosis hidden in history
  1. Shoko Vos1,
  2. Anna M Kamphuis2,
  3. Lodewijk A A Brosens3
  1. 1 Pathology, Radboudumc, Nijmegen, The Netherlands
  2. 2 Oncology, UMC Utrecht, Utrecht, The Netherlands
  3. 3 Pathology, UMC Utrecht, Utrecht, The Netherlands
  1. Correspondence to Dr Shoko Vos, Pathology, Radboudumc, Nijmegen 6525 XZ, The Netherlands; shoko.vos{at}radboudumc.nl

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Clinical question

A 36-year-old woman presented with postprandial abdominal pain. Radiological assessment showed an irregular endoluminal mass in intrahepatic bile ducts and a separate mass in liver segment 8. A liver biopsy was performed. In addition, medical history revealed two skin excisions of lesions on the left thigh (at 24 years of age), and in the left popliteal space (at 30 years of age). Family history revealed several grandparents who died of cancer at older age (specific types not fully clear). Review the high quality, interactive digital Aperio slide of the liver biopsy and the skin excision (popliteal space) at http://virtualacp.com/JCPCases/jclinpath-2019-206271.R2_1/ and http://virtualacp.com/JCPCases/jclinpath-2019-206271.R2/ and consider your diagnosis.

What is your diagnosis?

  1. Intrahepatic cholangiocarcinoma and BAP1-inactivated melanocytic nevus/tumour in the context of BAP1 tumour predisposition syndrome.

  2. Intrahepatic cholangiocarcinoma and melanoma in the context of PALB2 tumour predisposition syndrome.

  3. Intrahepatic cholangiocarcinoma and Spitz nevus with a ROS1 fusion.

  4. Intrahepatic cholangiocarcinoma and Spitzoid melanoma in the context of Li Fraumeni syndrome.

  5. Metastastic pancreatic carcinoma and Spitzoid melanoma in the context of …

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Footnotes

  • Handling editor Iskander Chaudhry.

  • Contributors SV and LB selected the case and collected the data. SV took the lead in writing the manuscript. AK and LB provided feedback and helped shape the manuscript. The final manuscript was approved by all authors.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent for publication Obtained.

  • Provenance and peer review Not commissioned; internally peer reviewed.

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