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Case of aggressive metastatic follicular variant papillary thyroid carcinoma with BRAF K601E and BCORL1 mutations.
BMJ Case Rep. 2020 06 30; 13(6)BC

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.

Authors+Show Affiliations

Internal Medicine, Harvard Medical School, Boston, Massachusetts, USA doaa.ali24@gmail.com.Department of Endocrinology, Diabetes, and Metabolism, Femwell Health Group, Miami Beach, Florida, USA.Department of Laboratory Medicine and Pathology, Mayo Clinic Florida, Jacksonville, Florida, USA.No affiliation info availableDepartment of Endocrinology, Diabetes, and Metabolism, Mayo Clinic Florida, Jacksonville, Florida, USA.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

32606114

Citation

Attia, Doaa, et al. "Case of Aggressive Metastatic Follicular Variant Papillary Thyroid Carcinoma With BRAF K601E and BCORL1 Mutations." BMJ Case Reports, vol. 13, no. 6, 2020.
Attia D, Lurie A, Zhai Q, et al. Case of aggressive metastatic follicular variant papillary thyroid carcinoma with BRAF K601E and BCORL1 mutations. BMJ Case Rep. 2020;13(6).
Attia, D., Lurie, A., Zhai, Q., Mesko, T., & Smallridge, R. (2020). Case of aggressive metastatic follicular variant papillary thyroid carcinoma with BRAF K601E and BCORL1 mutations. BMJ Case Reports, 13(6). https://doi.org/10.1136/bcr-2019-234208
Attia D, et al. Case of Aggressive Metastatic Follicular Variant Papillary Thyroid Carcinoma With BRAF K601E and BCORL1 Mutations. BMJ Case Rep. 2020 06 30;13(6) PubMed PMID: 32606114.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Case of aggressive metastatic follicular variant papillary thyroid carcinoma with BRAF K601E and BCORL1 mutations. AU - Attia,Doaa, AU - Lurie,Alexander, AU - Zhai,Qihui, AU - Mesko,Thomas, AU - Smallridge,Robert, Y1 - 2020/06/30/ PY - 2022/06/30/pmc-release PY - 2020/7/2/entrez PY - 2020/7/2/pubmed PY - 2020/7/2/medline KW - endocrine cancer KW - head and neck cancer KW - thyroid disease JF - BMJ case reports JO - BMJ Case Rep VL - 13 IS - 6 N2 - 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. SN - 1757-790X UR - https://www.unboundmedicine.com/medline/citation/32606114/Case_of_aggressive_metastatic_follicular_variant_papillary_thyroid_carcinoma_with_BRAF_K601E_and_BCORL1_mutations L2 - https://casereports.bmj.com/cgi/pmidlookup?view=long&pmid=32606114 DB - PRIME DP - Unbound Medicine ER -
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