钙骨转移:分化不良甲状腺癌的罕见表现。

IF 0.7 Q4 ENDOCRINOLOGY & METABOLISM Endocrinology, Diabetes and Metabolism Case Reports Pub Date : 2023-12-01 Print Date: 2023-10-01 DOI:10.1530/EDM-23-0103
Omayma Elshafie, Anjali Jain, Summit Bichpuria, Yamina Rassou, Syed Furqan Hashmi, Abir Bou Khalil
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引用次数: 0

摘要

摘要:一名 60 岁的女性因急性右脚踝疼痛 3 个月来我院就诊。患者曾患分化较差的甲状腺癌,6个月前接受了甲状腺全切除术、颈部左外侧Ⅱ-Ⅴ级切除术和颈部中央Ⅵ-Ⅶ级切除术,术后进行了3.7 GBq的I-131放射性碘(131I)消融治疗。131I术后WBS显示甲状腺组织残留碘嗜性,无其他碘嗜性疾病或转移。颈部和胸部的SPECT/CT显示双侧肺部无结节,纵隔内有不连续的结节性肿块,骨部无病变。FDG-PET CT 扫描显示,纵隔淋巴结(LN)为 FDG-avid,肺部有无数非 FDG-avid、近心形结节,骨骼有少量 FDG-avid、淋巴结病变。右脚踝的 X 光片和磁共振成像分别显示,小腿骨后侧有一个边缘清晰的淋巴结病变和 5 × 6 厘米的软组织肿块病变。方骨肿块的组织病理学检查证实,甲状腺源性免疫染色阳性,包括甲状腺球蛋白、TTF-1和PAX-8。支气管内纵隔和支气管LN活检证实了甲状腺癌转移。基因突变显示HRAS和GNA13具有高肿瘤突变负荷。我们描述了一例罕见的分化较差的甲状腺癌患者,患者表现为右脚踝疼痛;我们证实病因是甲状腺癌的小腿骨转移,而小腿骨是极为罕见的骨转移部位。基因突变指向免疫检查点抑制剂的治疗:学习要点:分化不良的甲状腺癌(PDTC)通常会转移到肺部和骨骼,但很少发生在小腿根部。远处转移患者的长期预后明显较差。放疗能有效减轻转移疼痛并缩小转移灶。PAX-8染色可用于区分甲状腺癌和肺腺癌。寻找基因突变对决定PDTC治疗方法的重要性
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Calcaneus metastasis: a rare presentation of poorly differentiated thyroid cancer.

Summary: A 60-year-old woman presented to our clinic with an acute onset 3 months history of right ankle pain. The patient had a history of poorly differentiated thyroid cancer, which was treated with total thyroidectomy, left lateral neck dissection levels II-V and central neck dissection levels VI-VII followed by postoperative I-131 radioactive iodine (131I) ablation therapy 3.7 GBq 6 months ago. The post-131I WBS showed residual iodine-avid thyroid tissue with no other iodine-avid disease or metastasis. SPECT/CT of the neck and chest showed nonavid bilateral pulmonary nodules, discrete nodal masses in mediastinum and nonavid bone lesions. FDG-PET CT scan showed FDG-avid mediastinal lymph nodes (LN), innumerable non-FDG-avid subcentimetric pulmonary nodules and few FDG-avid lytic lesions in the skeleton. X-ray and MRI of the right ankle showed a well-marginated lytic lesion in the posterior body of calcaneus and 5 × 6 cm soft tissue mass lesion, respectively. The histopathology of the calcaneus mass confirmed a positive immunostaining for thyroid origin which includes thyroglobulin and TTF-1 with PAX-8. Endobronchial mediastinal and bronchial LN biopsy confirmed thyroid cancer metastasis. Gene mutation showed HRAS and GNA13 with a high tumor mutational burden. We describe a rare case of poorly differentiated thyroid cancer in a patient who presented with right ankle pain; we confirmed the cause to be a calcaneus metastasis from the thyroid cancer, with calcaneus being an extremely rare site for bone metastases. Gene mutations points toward treatment with immune checkpoint inhibitors.

Learning points: Poorly differentiated thyroid carcinoma (PDTC) usually metastasizes to lung and bone but can rarely occur in the calcaneus. Patients with distant metastases have significantly worse long-term prognosis. Radiotherapy is effective in reducing the metastatic pains as well as reducing the size of the metastasis. PAX-8 staining can be used to differentiate thyroid carcinomas from lung adenocarcinomas. The importance of searching for gene mutations to decide the treatment of PDTC.

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来源期刊
CiteScore
1.50
自引率
0.00%
发文量
142
审稿时长
9 weeks
期刊介绍: Endocrinology, Diabetes & Metabolism Case Reports publishes case reports on common and rare conditions in all areas of clinical endocrinology, diabetes and metabolism. Articles should include clear learning points which readers can use to inform medical education or clinical practice. The types of cases of interest to Endocrinology, Diabetes & Metabolism Case Reports include: -Insight into disease pathogenesis or mechanism of therapy - Novel diagnostic procedure - Novel treatment - Unique/unexpected symptoms or presentations of a disease - New disease or syndrome: presentations/diagnosis/management - Unusual effects of medical treatment - Error in diagnosis/pitfalls and caveats
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