Internal Medicine, Harvard Medical School, Boston, Massachusetts, USA
Department of Endocrinology, Diabetes, and Metabolism, Femwell Health Group, Miami Beach, Florida, USA.
BMJ Case Rep. 2020 Jun 30;13(6):e234208. doi: 10.1136/bcr-2019-234208.
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.
BCL6 核心抑制因子样蛋白 1(BCORL1)突变在甲状腺癌中很少被描述,也很少与任何恶性肿瘤中的 BRAF 突变相关。然而,我们报告了一例 49 岁女性患有侵袭性滤泡状变异型甲状腺乳头状癌(FV-PTC),同时存在 BRAF K601E 和 BCORL1 突变。患者于 2007 年因 3.6cm 右侧甲状腺结节和左侧较小病变接受了全甲状腺切除术;两者均为 FV-PTC,无血管淋巴管侵犯或转移。2015 年,正电子发射断层扫描-CT 扫描显示左侧后外侧第五肋骨有一小处缺损,伴有轻度增高的代谢活性,标准摄取值为 3.9,右侧髋关节股骨颈和转子交界处也有另一处病变。肿瘤活检和基因分析显示存在罕见的 BRAF K601E 和罕见的 BCORL1 突变。虽然罕见,但我们报告了一例同时存在 BRAF K601E 和 BCORL1 突变的侵袭性 FV-PTC 病例。