Khthir Rodhan, Binegar Nash B
Endocrinology, Diabetes and Metabolism, University of North Dakota School of Medicine and Health Sciences, Bismarck, USA.
Endocrinology, Diabetes and Metabolism, Sanford Health, Bismarck, USA.
Cureus. 2024 Mar 1;16(3):e55329. doi: 10.7759/cureus.55329. eCollection 2024 Mar.
Thyroid cancer in ectopic thyroid tissue is a very rare entity. We report a patient with papillary thyroid cancer arising from upper mediastinal ectopic thyroid tissue. The patient presented with thoracic spine metastasis with cord compression. The patient was a 67-year-old woman, who presented with upper back pain. Magnetic resonance imaging (MRI) showed suspected metastatic disease in the second and third thoracic vertebrae (T2 and T3). She underwent laminectomy and decompression surgery at the T1-T3 level. The final pathology report showed metastatic thyroid carcinoma with papillary features. She underwent external beam radiation to the affected spine. Computerized tomography (CT) scan of the chest, abdomen, and pelvis showed a 3.0 × 2.8 × 2.3 cm soft-tissue mass in the left superior mediastinum extending into the supraclavicular region. Fluorodeoxyglucose-positron emission tomography (FDG-PET) scan showed hypermetabolic foci in the upper mediastinum. Fine needle aspiration (FNA) of the upper mediastinal mass was consistent with papillary thyroid cancer. Molecular testing from the FNA sample using showed chromosomal rearrangement. A total thyroidectomy was performed. Pathology of the resected thyroid was benign. Pathology of the mediastinal mass showed a papillary thyroid carcinoma with focal tall cell features, forming a 4 × 2.5 × 2.5 cm mass. Surgery was followed by ablation with 100 millicuries (mci) of radioactive iodine (I-131) and external beam radiation. This case highlights the presentation of primary intrathoracic papillary thyroid cancer with SQSTM1-NTRK3 chromosomal rearrangement and the challenges in the diagnosis and management of this unique case. This patient had a very aggressive disease presentation that required multimodal treatment, including thoracic spine decompression, total thyroidectomy, primary intrathoracic goiter resection, high-dose radioactive iodine treatment, and external beam radiation to the affected spine area. SQSTM1-NTRK3 chromosomal rearrangement can be targeted by medications such as larotrectinib and endtrectinib.
异位甲状腺组织中的甲状腺癌是一种非常罕见的疾病。我们报告一例起源于上纵隔异位甲状腺组织的乳头状甲状腺癌患者。该患者出现胸椎转移并伴有脊髓受压。患者为67岁女性，表现为上背部疼痛。磁共振成像（MRI）显示第二和第三胸椎（T2和T3）疑似转移性疾病。她接受了T1 - T3水平的椎板切除术和减压手术。最终病理报告显示为具有乳头状特征的转移性甲状腺癌。她接受了对受影响脊柱的外照射放疗。胸部、腹部和骨盆的计算机断层扫描（CT）显示左上纵隔有一个3.0×2.8×2.3 cm的软组织肿块，延伸至锁骨上区域。氟脱氧葡萄糖 - 正电子发射断层扫描（FDG - PET）显示上纵隔有高代谢灶。上纵隔肿块的细针穿刺抽吸（FNA）结果与乳头状甲状腺癌一致。使用……对FNA样本进行的分子检测显示……染色体重排。进行了全甲状腺切除术。切除的甲状腺病理结果为良性。纵隔肿块的病理显示为具有局灶性高细胞特征的乳头状甲状腺癌，形成一个4×2.5×2.5 cm的肿块。手术后进行了100毫居里（mci）放射性碘（I - 131）消融和外照射放疗。本病例突出了原发性胸内乳头状甲状腺癌伴SQSTM1 - NTRK3染色体重排的表现以及该独特病例在诊断和管理方面的挑战。该患者疾病表现非常侵袭性，需要多模式治疗，包括胸椎减压、全甲状腺切除术、原发性胸内甲状腺肿切除术、高剂量放射性碘治疗以及对受影响脊柱区域的外照射放疗。SQSTM1 - NTRK3染色体重排可被拉罗替尼和恩曲替尼等药物靶向治疗。
