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  • Malignant gastrointestinal neuroectodermal tumour arising in the extrahepatic bile ducts; a rare neoplasm in an unusual anatomic location

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Case Reports: Rare disease
Malignant gastrointestinal neuroectodermal tumour arising in the extrahepatic bile ducts; a rare neoplasm in an unusual anatomic location
  1. C Quinn Miller1,
  2. Ahmad Al-Hader2,
  3. Gail H Vance3 and
  4. Chen Zhang1
  1. 1 Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, Indiana, USA
  2. 2 Department of Medicine, Division of Hematology/Oncology, Indiana University School of Medicine, Indianapolis, Indiana, USA
  3. 3 Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA
  1. Correspondence to Chen Zhang; chenzhan{at}iupui.edu

Abstract

Malignant gastrointestinal neuroectodermal tumour (GNET) is a rare, aggressive neoplasm with fewer than 100 cases reported in the literature. Most cases arise in the tubular gastrointestinal tract. We reported a unique case of GNET arising in the extrahepatic bile ducts and reviewed the literature of GNETs. The patient is a female in her mid-30s who presented with painless jaundice and diarrhoea several months after cholecystectomy for biliary dyskinesia. Workup revealed a tumour arising from the peripheral 4B bile ducts involving the left hepatic duct and bifurcation. Histologic examination of the lesion showed a malignant spindled and epithelioid neoplasm which strongly expressed S100 and SOX-10. Neoplastic cells were negative for various cytokeratins and melanoma markers. FISH testing using EWSR1 break-apart probes showed rearrangement of the EWSR1 gene region. The immunohistochemical and molecular findings are consistent with a diagnosis of GNET arising in the extrahepatic bile ducts.

  • hepatic cancer
  • pathology

https://doi.org/10.1136/bcr-2022-250094

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    Footnotes

    • Contributors CZ is the guarantor of the content of the manuscript. CZ and CQM performed microscopic examinations. AA-H provided patients’ clinical data. GHV performed FISH analysis. All authors contributed to manuscript preparation.

    • 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.

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing interests None declared.

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