Introduction: Primary squamous cell carcinoma (PSCC) of the thyroid is an exceptionally rare malignancy accounting for #x3c;1% of all primary thyroid cancers. Therapy is multimodal including surgery, radiotherapy, and chemotherapy but with no consensus for management and therapy. Here, we describe a case of a male patient who presented with a BRAF V600E-mutated PSCC of the thyroid gland showing response to combined dabrafenib and trametinib therapy over a period of #x3e;12 months. Case Presentation: A 78-year-old male patient presented with a 3-week history of dysphonia and dyspnoea. Laryngoscopy revealed a mechanical obstruction by a right-sided, subglottical mass, which on cervical ultrasound was highly suggestive of anaplastic thyroid carcinoma. Additional workup including esophagogastroduodenoscopy showed compression of the oesophagus but no oesophageal infiltration by the tumour. Immunohistochemistry displayed CK19-positive cells indicating epithelial origin of the tumour. CK5/6 and P40 immunohistochemistry confirmed the morphological impression of squamous cell differentiation while staining with thyroid markers TTF-1 and TPO was negative and PAX8 showed a nuclear positive signal. Based on immunohistopathology, presence of TP53 and BRAF V600E mutations, and exclusion of metastatic squamous cell carcinoma of other origin, the diagnosis of a PSCC of the thyroid was established. As an individualized treatment concept, we decided to advocate combined BRAF V600E targeting by the multikinase inhibitors dabrafenib and trametinib. This led to drastic improvement in patient’s quality of life without severe side effects over a period of #x3e;12 months. Conclusion: In this case, molecular diagnosis allowed a highly individualized treatment concept with combined dabrafenib and trametinib therapy.
Eur Thyroid J

中文翻译：

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达拉非尼和曲美替尼联合治疗 BRAF V600E 突变的原发性甲状腺鳞状细胞癌的疗效：病例报告

简介：甲状腺原发性鳞状细胞癌 (PSCC) 是一种非常罕见的恶性肿瘤，占所有原发性甲状腺癌的 #x3c;1%。治疗是多模式的，包括手术、放疗和化疗，但没有就管理和治疗达成共识。在这里，我们描述了一名男性患者的病例，该患者患有 BRAF V600E 突变的甲状腺 PSCC，在 #x3e;12 个月的时间内显示对达拉非尼和曲美替尼联合治疗的反应。案例介绍：一名 78 岁男性患者出现 3 周的发音困难和呼吸困难病史。喉镜检查发现右侧声门下肿块存在机械性阻塞，宫颈超声高度提示甲状腺未分化癌。包括食管胃十二指肠镜在内的其他检查显示食管受压，但肿瘤没有食管浸润。免疫组织化学显示 CK19 阳性细胞表明肿瘤的上皮起源。CK5/6 和 P40 免疫组织化学证实了鳞状细胞分化的形态学印象，而甲状腺标志物 TTF-1 和 TPO 染色呈阴性，PAX8 显示核阳性信号。基于免疫组织病理学、TP53 和 BRAF V600E 突变的存在以及其他来源的转移性鳞状细胞癌的排除，诊断为甲状腺 PSCC。作为个体化治疗理念，我们决定提倡多激酶抑制剂达拉非尼和曲美替尼联合靶向 BRAF V600E。这导致在#x3e;12 个月的时间内，患者的生活质量得到了显着改善，而没有严重的副作用。结论：在这种情况下，分子诊断允许采用达拉非尼和曲美替尼联合治疗的高度个体化治疗理念。
欧洲甲状腺杂志