Mylopotamitaki Kleanthi, Klonaris Dionisios, Kazamias Georgios, Simandirakis Christos, Vourliotaki Irene, Karakostas Efthimios
Department of Otorhinolaryngology-Head and Neck Surgery, General Hospital of Heraklion "Venizeleio-Pananeio", Heraklion, Crete, Greece.
University of Crete, School of Medicine, Greece.
Case Rep Otolaryngol. 2023 Sep 5;2023:6640087. doi: 10.1155/2023/6640087. eCollection 2023.
Thyroglossal duct cysts (TDC) represent approximately 70% of all congenital neck masses, and up to 1% of them contain thyroid tissue malignancies. Clinical presentation of TDC carcinomas is usually indistinguishable from benign tumors preoperatively, and differential diagnosis can be challenging. We present a rare case of TDC carcinoma concurrent with thyroid cancer in an adolescent. . A 16-year-old Caucasian female, otherwise healthy, was referred with a painless, gradually expanding lump on the neck. Physical examination revealed a well-circumscribed, moderately hard, tender mass of the anterior neck midline anteroinferior to the hyoid bone. Imaging findings suggested TDC as the most likely diagnosis. The patient had a Sistrunk procedure under general anesthesia. Histopathological findings diagnosed a BRAF-positive papillary thyroid carcinoma (PTC) in a TDC. A thyroid gland and neck ultrasound revealed a highly suspicious finding for malignancy right level VI lymph node, which was not confirmed by fine needle aspiration cytology (FNAC). Under general anesthesia, total thyroidectomy and central compartment lymph node neck dissection were performed. Histopathological findings revealed a thyroid parenchymal locus of PTC, as well as three lymph nodes infiltrated by PTC. The patient received adjuvant radioactive iodine ablation (RAI) therapy and is closely followed.
TDC carcinomas in conjunction with thyroid carcinomas in young patients are rare. Preoperative diagnosis can be challenging, as the vast majority of neck masses in young patients are benign in nature, and most malignant tumors lack specific clinical features. The diagnostic accuracy of FNAC is considered unsatisfactory due to its frequently cystic nature. Definitive diagnosis is based on histopathological findings. Clinicians should maintain a high level of suspicion for coexisting thyroid malignancies. Although surgical extirpation of the malignancy is considered standard of care, the treatment of TDC cancer should always be individualized by a multidisciplinary team.
甲状舌管囊肿（TDC）约占所有先天性颈部肿块的70%，其中高达1%含有甲状腺组织恶性肿瘤。TDC癌的临床表现术前通常与良性肿瘤难以区分，鉴别诊断具有挑战性。我们报告一例青少年TDC癌合并甲状腺癌的罕见病例。一名16岁、无其他健康问题的白种女性因颈部出现无痛、逐渐增大的肿块前来就诊。体格检查发现舌骨前下方颈部中线处有一个边界清晰、质地中等坚硬、有压痛的肿块。影像学检查结果提示最可能的诊断为TDC。患者在全身麻醉下接受了Sistrunk手术。组织病理学检查结果诊断为TDC内的BRAF阳性乳头状甲状腺癌（PTC）。甲状腺及颈部超声显示右侧VI区淋巴结有高度可疑的恶性病变，但细针穿刺细胞学检查（FNAC）未证实。在全身麻醉下，进行了全甲状腺切除术和中央区淋巴结清扫术。组织病理学检查结果显示有PTC的甲状腺实质部位，以及三个被PTC浸润的淋巴结。患者接受了辅助放射性碘消融（RAI）治疗，并密切随访。
年轻患者中TDC癌合并甲状腺癌很罕见。术前诊断具有挑战性，因为年轻患者颈部肿块绝大多数为良性，且大多数恶性肿瘤缺乏特异性临床特征。由于TDC通常为囊性，FNAC的诊断准确性被认为不令人满意。明确诊断基于组织病理学检查结果。临床医生应高度怀疑并存的甲状腺恶性肿瘤。虽然手术切除恶性肿瘤被认为是标准治疗方法，但TDC癌的治疗应始终由多学科团队进行个体化处理。
