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完全缓解的转移性间变性甲状腺癌:罕见病例的形态学、分子和临床评估。

Metastatic Anaplastic Thyroid Carcinoma in Complete Remission: Morphological, Molecular, and Clinical Work-Up of a Rare Case.

机构信息

Department of Oncology-Pathology, Karolinska Institutet, BioClinicum J6:20, SE-171 76, Stockholm, Sweden.

Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.

出版信息

Endocr Pathol. 2020 Mar;31(1):77-83. doi: 10.1007/s12022-020-09606-5.

Abstract

Anaplastic thyroid carcinoma (ATC) exhibits an exceedingly poor prognosis, and the current treatment options are, for most cases, palliative by nature. Few reports of long-time survivors exist, although in these patients, tumors often were limited to the thyroid and/or regional lymph nodes. We describe a 64-year-old male who developed a rapidly growing mass in the left thyroid lobe. A fine-needle aspiration biopsy (FNAB) was consistent with ATC, and the patient underwent preoperative combined chemo- and radiotherapy followed by a hemithyroidectomy. The ensuing histopathological investigation was consistent with ATC adjoined by an oxyphilic well-differentiated lesion, likely a Hürthle cell carcinoma. Tumor margins were negative, and no extrathyroidal extension was noted. Focused next-generation sequencing analysis of the primary tumor tissue identified a TP53 gene mutation but could not identify any potential druggable targets. Additional Sanger sequencing detected a C228T TERT promoter mutation. The tumor was found to be microsatellite stable and displayed PDL1 expression in 80% of tumor cells. Following a CT scan 1 month postoperatively, metastatic deposits were suspected in the lung as well as in the left adrenal gland, of which FNAB verified the latter. Remarkably, upon radiological follow-up, the disease had gone into apparent complete remission. The patient is alive and well with no signs of residual disease after 12 months of follow-up. We here summarize the clinical, histological, and molecular data of this highly interesting patient case and review the literature for possible common denominators with other patients with disseminated ATC.

摘要

间变性甲状腺癌(ATC)预后极差,目前的治疗选择在大多数情况下都是姑息性的。虽然有少数长期存活的病例报告,但这些患者的肿瘤通常局限于甲状腺和/或局部淋巴结。我们描述了一位 64 岁的男性,他的左甲状腺叶出现了一个快速生长的肿块。细针穿刺活检(FNAB)符合 ATC,患者接受了术前联合化疗和放疗,然后进行了半甲状腺切除术。随后的组织病理学检查与 ATC 一致,同时伴有嗜酸细胞分化良好的病变,可能是 Hurthle 细胞癌。肿瘤边缘阴性,无甲状腺外延伸。对原发性肿瘤组织进行的靶向下一代测序分析发现了一个 TP53 基因突变,但未能确定任何潜在的可用药靶点。进一步的 Sanger 测序检测到 C228T TERT 启动子突变。肿瘤为微卫星稳定型,80%的肿瘤细胞表达 PDL1。术后 1 个月行 CT 扫描后,怀疑肺部和左侧肾上腺有转移灶,FNAB 证实了后者。值得注意的是,在影像学随访中,疾病明显完全缓解。患者在 12 个月的随访中无疾病残留迹象,存活且状况良好。我们总结了这个非常有趣的患者病例的临床、组织学和分子数据,并回顾了文献中可能与其他播散性 ATC 患者的共同因素。

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