Department of Pathology, Memorial Sloan-Kettering Cancer Center, New York, New York, USA.
Sydney NSW Australia and Cancer Diagnosis and Pathology Research Group, Kolling Institute of Medical Research, Royal North Shore Hospital, University of Sydney, Sydney, Australia.
Thyroid. 2020 Oct;30(10):1505-1517. doi: 10.1089/thy.2020.0086. Epub 2020 May 8.
Anaplastic thyroid carcinoma (ATC) is nearly always fatal. Large studies on ATC are exceedingly rare. We aimed to study the clinical, genotypic, and histologic characteristics of ATC in the largest retrospective cohort of ATC to date. Three hundred sixty patients with ATC from two tertiary centers were studied. Molecular testing was performed in 126 cases including 107 using next-generation sequencing. The median patients' age was 68 years. Differentiated thyroid carcinoma (DTC) was present in 208 cases (58%), the most common being papillary carcinoma ( = 150). The 1-, 2-, 3-, and 5-year overall survival (OS) was 36%, 17%, 13%, and 11%, respectively. On univariate analysis, age, resectability, chemotherapy, radiotherapy, margin status, encapsulation, gross residual disease, gross extrathyroidal extension, percentage, and size of ATC in the primary tumor predicted OS ( < 0.05). Age, resectability, chemotherapy, and gross residual disease were independent prognostic factors in the entire cohort, while gross residual disease was the only independent predictor of OS in patients who had resection of their tumor. , , promoter, , , , and mutations were detected in 45%, 24%, 75%, 63%, 18%, 14%, and 14% of ATC, respectively. Concomitant and mutations were associated with worse outcome than mutation in only one of the genes. mutated and -mutated ATCs had similar frequency of nodal and distant metastasis. Twelve cases were pure squamous cell carcinoma, 60% of which carried mutation and showed a similar OS to other ATCs. (i) Gross residual disease remains the most crucial indicator of outcome in ATC. (ii) Encapsulation, margin status, percentage, and size of ATC in the primary were prognostically relevant. (iii) Pure thyroid squamous cell carcinoma may be considered as ATC given a genotype and similar outcome. (iv) In contrast to DTC, -mutated and -mutated ATCs have similar metastatic spread. (v) Concomitant mutations of or with confer a worse prognosis.
间变性甲状腺癌（ATC）几乎总是致命的。关于 ATC 的大型研究极为罕见。我们旨在研究迄今为止最大的 ATC 回顾性队列中 ATC 的临床、基因和组织学特征。对来自两个三级中心的 360 名 ATC 患者进行了研究。对 126 例进行了分子检测，其中 107 例采用了下一代测序。中位患者年龄为 68 岁。208 例（58%）存在分化型甲状腺癌（DTC），最常见的是乳头状癌（=150）。1、2、3 和 5 年总生存率（OS）分别为 36%、17%、13%和 11%。单因素分析显示，年龄、可切除性、化疗、放疗、切缘状态、包膜、大体残留疾病、大体甲状腺外侵犯、肿瘤原发灶中 ATC 的百分比和大小预测 OS（<0.05）。年龄、可切除性、化疗和大体残留疾病是整个队列中的独立预后因素，而在接受肿瘤切除术的患者中，大体残留疾病是 OS 的唯一独立预测因素。在 45%、24%、75%、63%、18%、14%和 14%的 ATC 中分别检测到 、 、 启动子、 、 、 和 突变。同时存在 和 突变的 ATC 比仅存在一个基因突变的预后更差。突变和 -突变的 ATC 具有相似的淋巴结和远处转移频率。12 例为纯鳞状细胞癌，其中 60%携带 突变，与其他 ATC 的 OS 相似。（i）大体残留疾病仍然是 ATC 结局的最关键指标。（ii）包膜、切缘状态、肿瘤原发灶中 ATC 的百分比和大小具有预后相关性。（iii）纯甲状腺鳞状细胞癌可被视为 ATC，因为具有 基因型和相似的结局。（iv）与 DTC 不同，-突变和 -突变的 ATC 具有相似的转移扩散。（v）同时存在 或 与 突变会导致更差的预后。
