Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Am J Case Rep. 2023 Dec 2;24:e941838. doi: 10.12659/AJCR.941838.
BACKGROUND Anaplastic thyroid carcinomas are aggressive malignancies associated with poor clinical outcomes and challenges in diagnosis. While local/regional disease in the neck is the most usual site of biopsy, in some cases, distant metastases may be the site of initial investigation. CASE REPORT A 66-year-old woman with a clinical concern for diffuse metastatic malignancy of unknown primary presented to the Emergency Department (ED) with jaundice and shortness of breath. Recent laboratory test results revealed an elevated CA 19-9. Urinalysis revealed hematuria, proteinuria, and hyperbilirubinemia. She had a computed tomography (CT) scan of the chest, abdomen, and pelvis revealing diffuse involvement of the liver, lungs, adrenals, kidneys, thyroid, pancreas, gallbladder, and brain, but had not yet had a biopsy for definitive diagnosis. An ultrasound-guided liver biopsy was evaluated for cytological features, histological features, and pattern of immunostaining. The cytomorphological histological features were concerning for a high-grade malignancy. Immunohistochemical evaluation revealed that the lesion was positive for CK-AE1/AE3, BRAF, CK7, GATA3, SATB2, PAX8, and TTF-1, but the lesion was not reactive to the following stains: napsin, CK20, CDX2, PCEA, calcitonin, ER and thyroglobulin. The patient was diagnosed with a sarcomatoid anaplastic thyroid carcinoma and died within a few days after diagnosis. CONCLUSIONS This case illustrates that unanticipated specific diagnoses of widely metastatic anaplastic thyroid carcinoma are feasible when integration of patient history, clinical setting, imaging findings, clinical laboratory results, cytomorphology, histomorphology, and results of ancillary immunohistochemical testing are thoughtfully pursued and synthesized.
间变性甲状腺癌是一种侵袭性恶性肿瘤,与不良的临床结局和诊断挑战相关。虽然颈部的局部/区域疾病是最常见的活检部位,但在某些情况下,远处转移可能是最初检查的部位。
一名 66 岁女性,因弥漫性转移性恶性肿瘤且原发灶不明就诊于急诊部,伴有黄疸和呼吸急促。最近的实验室检测结果显示 CA 19-9 升高。尿液分析显示血尿、蛋白尿和高胆红素血症。她进行了胸部、腹部和骨盆的计算机断层扫描(CT),显示肝脏、肺部、肾上腺、肾脏、甲状腺、胰腺、胆囊和大脑广泛受累,但尚未进行活检以明确诊断。超声引导下的肝活检评估了细胞学特征、组织学特征和免疫染色模式。细胞形态学组织学特征提示高度恶性肿瘤。免疫组织化学评估显示病变对 CK-AE1/AE3、BRAF、CK7、GATA3、SATB2、PAX8 和 TTF-1 呈阳性反应,但病变对以下染色剂无反应: napsin、CK20、CDX2、PCEA、降钙素、ER 和甲状腺球蛋白。患者被诊断为肉瘤样间变性甲状腺癌,诊断后几天内死亡。
当综合考虑患者病史、临床背景、影像学发现、临床实验室结果、细胞形态学、组织形态学和辅助免疫组织化学检测结果时,可能会意外发现广泛转移的间变性甲状腺癌的特定诊断,这种情况并不少见。