Subcentimetric papillary thyroid carcinoma with extensive lymph node and brain metastasis: case report and review of literature.

IF 0.7 Q4 ENDOCRINOLOGY & METABOLISM Endocrinology, Diabetes and Metabolism Case Reports Pub Date : 2023-12-18 Print Date: 2023-10-01 DOI:10.1530/EDM-23-0025
Andreia Amado, Elisabete Teixeira, Sule Canberk, Sofia Macedo, Bárbara Castro, Hugo Pereira, João Varanda, Susana Graça, Amélia Tavares, Carlos Soares, Maria João Oliveira, Manuel Oliveira, Paula Soares, Manuel Sobrinho Simões, Antónia Afonso Póvoa
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Abstract

Summary: We report a 61-year-old male patient without personal history of thyroid carcinoma or radiation exposure. In 2011, he presented with a cervical mass whose biopsy diagnosed a papillary thyroid carcinoma (PTC) in a lymph node metastasis (LNM). Total thyroidectomy with lymphadenectomy of central and ipsilateral compartment was performed. Histopathology identified a 2 mm follicular variant of PTC and LNM in 25/25 lymph nodes. The patient was treated with 150 mCi of radioactive iodine (RAI), followed by levothyroxine suppressive therapy. In 2016, a retrotracheal mass was diagnosed, suggesting local recurrence; patient was submitted to surgical excision and RAI therapy (120 mCi). Due to seizures, in 2019, a brain CT was performed that diagnosed brain metastases. The patient underwent debulking of the main lesion. Histopathology analysis confirmed a metastatic lesion with variated morphology: classical PTC and follicular pattern and hobnail and tall cell features. Molecular analysis revealed BRAFV600E in LNM at presentation and BRAFV600E and TERT promoter (TERTp) mutations in the recurrent LNM and brain metastasis. Based upon this experience we review the reported cases of subcentimetric PTC with brain metastases and discuss the molecular progression of the present case.

Learning points: Papillary microcarcinoma (PMCs) usually have very good prognosis with low impact on patient survival. PMCs presenting in elderly patients with LNM at diagnosis may carry a guarded outcome. Brain metastasis although rare indicate aggressive phenotypic features. Patient risk stratification of PMCs based on histopathological analysis and genetic testing may have a significant impact on prognosis providing therapeutic markers, that may predict disease progression and overall outcome.

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甲状腺乳头状癌伴广泛淋巴结和脑转移:病例报告和文献综述。
摘要:我们报告了一名61岁的男性患者,他个人没有甲状腺癌病史或辐射暴露史。2011 年,他出现颈部肿块,活检诊断为淋巴结转移性甲状腺乳头状癌(PTC)。医生对他进行了甲状腺全切除术,并切除了中央和同侧的淋巴结。组织病理学检查发现,患者患有 2 毫米的滤泡型 PTC,25/25 个淋巴结中有 LNM。患者接受了 150 mCi 的放射性碘(RAI)治疗,随后接受了左甲状腺素抑制治疗。2016 年,诊断出气管后肿块,提示局部复发;患者接受了手术切除和 RAI 治疗(120 mCi)。由于癫痫发作,患者于2019年接受了脑CT检查,确诊为脑转移。患者接受了主要病灶的切除术。组织病理学分析证实,转移灶具有不同的形态:经典的PTC和滤泡型,以及梭形细胞和高细胞特征。分子分析显示,发病时 LNM 中存在 BRAFV600E,复发的 LNM 和脑转移灶存在 BRAFV600E 和 TERT 启动子(TERTp)突变。基于这一经验,我们回顾了已报道的亚高发 PTC 脑转移病例,并讨论了本病例的分子进展:乳头状微癌(PMC)通常预后良好,对患者生存影响较小。诊断时为LNM的老年乳头状微腺癌患者的预后可能较差。脑转移虽然罕见,但显示出侵袭性表型特征。根据组织病理学分析和基因检测对 PMC 患者进行风险分层可能会对预后产生重大影响,提供治疗标记物,预测疾病进展和总体预后。
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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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