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Rare disease
Case report
Case of aggressive metastatic follicular variant papillary thyroid carcinoma with BRAF K601E and BCORL1 mutations
  1. Doaa Attia1,
  2. Alexander Lurie2,
  3. Qihui Zhai3,
  4. Thomas Mesko4 and
  5. Robert Smallridge5
  1. 1Internal Medicine, Harvard Medical School, Boston, Massachusetts, USA
  2. 2Department of Endocrinology, Diabetes, and Metabolism, Femwell Health Group, Miami Beach, Florida, USA
  3. 3Department of Laboratory Medicine and Pathology, Mayo Clinic Florida, Jacksonville, Florida, USA
  4. 4Section of Surgical Oncology, Mount Sinai Medical Center, Miami Beach, Florida, USA
  5. 5Department of Endocrinology, Diabetes, and Metabolism, Mayo Clinic Florida, Jacksonville, Florida, USA
  1. Correspondence to Dr Doaa Attia; doaa.ali24{at}gmail.com

Abstract

BCL6 corepressor like-1 (BCORL1) mutation has rarely been described in thyroid cancer or in association with BRAF mutations in any malignancy. However, we report a 49-year-old woman who had aggressive follicular variant papillary thyroid carcinoma (FV-PTC) with both the BRAF K601E and BCORL1 mutations. The patient underwent a total thyroidectomy for a 3.6 cm right thyroid nodule and a smaller lesion in the left lobe in 2007; both were FV-PTCs with no lymphovascular invasion or metastases. In 2015, a positron emission tomography–CT scan showed a small defect in the left posterior lateral fifth rib with mild increased hypermetabolic activity with standardised uptake value of 3.9 and another lesion in the right hip at the junction of the femoral neck and trochanter. Tumour biopsy and genetic analysis revealed an uncommon BRAF K601E and a rare BCORL1 mutation. While rare, we report a case of aggressive FV-PTC with both the BRAF K601E and BCORL1 mutations.

  • thyroid disease
  • endocrine cancer
  • head and neck cancer

https://doi.org/10.1136/bcr-2019-234208

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    Footnotes

    • Contributors DA wrote the case report, performed substantial contributions to the manuscript design and took the patient consent for publication. AL revised the manuscript and performed substantial contribution to the follow-up of the patient. QZ selected the pathology figures and interpreted all the biopsy findings. TM edited the case presentation. RS revised the manuscript and provided a critical feedback. AL, TM and RS were responsible for the management of the case.

    • 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; externally peer reviewed.