Wei Luyang, Zhao Ning, Li Yalun, Zheng Xiaodan, Zhang Huaxin, Zhang Zhongtao
Department of General Surgery.
Department of Pathology, Beijing Friendship Hospital, Capital Medical University, Beijing, PR China.
Medicine (Baltimore). 2019 Aug;98(35):e16994. doi: 10.1097/MD.0000000000016994.
Adult patients with Down syndrome (DS) commonly develop Hashimoto thyroiditis (HT). However, primary diffuse large B-cell lymphoma (DLBCL) of the thyroid is uncommon, and its simultaneous occurrence with HT is very rare. To our knowledge, coexisting DLBCL and HT in a patient with DS has not been reported in the medical literature.
We present a 43-year-old woman with DS who reported progressive swelling of the neck on the right side and dyspnea over the previous 1 month, with associated neck ache, hoarseness, and dysphagia. Thyroid ultrasonography and computed tomography of the neck revealed a large mass in the right lobe compressing the surrounding tissues.
Based on the clinical and histopathologic findings, the patient was diagnosed with coexisting primary thyroid DLBCL and HT.
A palliative unilateral thyroidectomy was performed; postoperative histopathology and immunohistochemistry revealed thyroid DLBCL and HT. The patient was scheduled for chemotherapy and targeted therapy after recovering from surgery.
The patient died 3 weeks after surgery due to asphyxia caused by uncontrollable growth of recurrent tumor.
The coexistence of DS, primary thyroid DLBCL, and HT is very rare. There is no standardized approach to the clinical identification of primary thyroid lymphoma (PTL), making early diagnosis difficult. A multidisciplinary approach and close follow-up are needed. The mechanisms of the link between DS and PTL are poorly understood and remain to be elucidated.
成年唐氏综合征（DS）患者常发生桥本甲状腺炎（HT）。然而，甲状腺原发性弥漫性大B细胞淋巴瘤（DLBCL）并不常见，其与HT同时发生的情况极为罕见。据我们所知，医学文献中尚未报道过DS患者同时存在DLBCL和HT的情况。
我们报告一例43岁的DS女性患者，其在过去1个月内出现右侧颈部进行性肿胀和呼吸困难，并伴有颈部疼痛、声音嘶哑和吞咽困难。甲状腺超声检查和颈部计算机断层扫描显示右叶有一个大肿块，压迫周围组织。
根据临床和组织病理学检查结果，该患者被诊断为同时存在原发性甲状腺DLBCL和HT。
进行了姑息性单侧甲状腺切除术；术后组织病理学和免疫组织化学检查显示为甲状腺DLBCL和HT。患者术后恢复后计划接受化疗和靶向治疗。
患者术后3周因复发性肿瘤无法控制的生长导致窒息死亡。
DS、原发性甲状腺DLBCL和HT同时存在的情况非常罕见。目前尚无标准化的原发性甲状腺淋巴瘤（PTL）临床诊断方法，这使得早期诊断困难。需要多学科方法和密切随访。DS与PTL之间联系的机制尚不清楚，有待进一步阐明。
