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Pathology
Placental metastasis from maternal NUT carcinoma: diagnostic pitfalls and challenges
  1. Jonathan K Lai1,2,
  2. Lawrence Panasci3,
  3. Natalie Gabrielle Patey4 and
  4. Hangjun Wang5
  1. 1Department of Pathology, McGill University Faculty of Medicine, Montreal, Quebec, Canada
  2. 2Department of Diagnostic and Molecular Pathology, McGill University Medical Centre, Montreal, Quebec, Canada
  3. 3Department of Medical Oncology, Jewish General Hospital, Montreal, QC, Canada
  4. 4Departement de Pathologie et du Centre de Recherche, CHU Sainte-Justine, Montreal, QC, Canada
  5. 5Department of Diagnostic and Molecular Pathology, Jewish General Hospital, McGill University Faculty of Medicine, Montreal, QC, Canada
  1. Correspondence to Dr Jonathan K Lai; jonathan.lai{at}mail.mcgill.ca

Abstract

We report a young pregnant woman with large midline thoracic mass and markedly elevated serum alpha-fetoprotein (AFP) levels. Initially suspected as a germ cell tumour (GCT) due to age, site, and high AFP levels, a biopsy unveiled a high-grade malignant tumour characterised by undifferentiated monotonous cells. Although tumour cells exhibited positive AFP, the overall immunoprofile did not provide additional evidence to support GCT. Further work-up showed positive for NUT (nuclear protein in testis) immunostaining and the presence of BRD4–NUT1 fusion, confirming the diagnosis of NUT carcinoma. On radiology, there were extensive metastases to lungs, liver, vertebrae, and placenta. Despite aggressive chemotherapy, radiotherapy and immunotherapy, she did not respond to the therapies. Fortunately, her child was not affected by the carcinoma. This is the first case highlighting that thoracic lung primary NUT carcinoma can spread to the placenta and manifest with elevated serum AFP levels, potentially leading to misdiagnosis as GCT both clinically and pathologically.

  • Lung cancer (oncology)
  • Pregnancy
  • Cancer - see Oncology
  • Pathology
  • Neonatal health

https://doi.org/10.1136/bcr-2023-259538

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    Footnotes

    • Twitter @jonlaimd

    • Contributors The following authors were responsible for drafting of the text, sourcing and editing of clinical images, investigation results, drawing original diagrams and algorithms, and critical revision for important intellectual content—JL and Hangjun Wang. The following authors gave final approval of the manuscript—JL, Hangjun Wang, Lawrence Panasci and Natalie Patey.

    • 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.