Daqi Zhang, N. Liang, Hui Sun, Francesco Frattini, C. Sui, Mingyu Yang, Hongbo Wang, G. Dionigi
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In the early stage, cure is possible with adequate surgery; in the late stage, treatment with tyrosine kinase inhibitors is an option. RET A mutation analysis should be performed on all patients with MTC. During follow-up, a biochemical distinction is made between: healed (Ctn not measurably low), biochemically incomplete (Ctn increased without tumour detection) and structural tumour detection (metastases on imaging). After MTC surgery, the following results should be available for classification in follow-up care: (i) histology, Ctn immunohistology if necessary, (ii) classification according to the pTNM scheme, (iii) the result of the RET analysis for categorisation into the hereditary or sporadic variant and (iiii) the postoperative Ctn value. Tumour progression is determined by assessing the Ctn doubling time and the RECIST criteria on imaging. In most cases, “active surveillance” is possible. In the case of progression and symptoms, the following applies: local (palliative surgery, radiotherapy) before systemic (tyrosine kinase inhibitors).","PeriodicalId":505784,"journal":{"name":"Frontiers in Endocrinology","volume":"23 10","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2024-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Critically evaluated key points on hereditary medullary thyroid carcinoma\",\"authors\":\"Daqi Zhang, N. Liang, Hui Sun, Francesco Frattini, C. Sui, Mingyu Yang, Hongbo Wang, G. Dionigi\",\"doi\":\"10.3389/fendo.2024.1412942\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Medullary thyroid carcinoma (MTC) accounts for only 3% of all thyroid carcinomas: 75% as sporadic MTC (sMTC) and 25% as hereditary MTC (hMTC) in the context of multiple endocrine neoplasia type 2 (MEN2). 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After MTC surgery, the following results should be available for classification in follow-up care: (i) histology, Ctn immunohistology if necessary, (ii) classification according to the pTNM scheme, (iii) the result of the RET analysis for categorisation into the hereditary or sporadic variant and (iiii) the postoperative Ctn value. Tumour progression is determined by assessing the Ctn doubling time and the RECIST criteria on imaging. In most cases, “active surveillance” is possible. 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引用次数: 0
摘要
甲状腺髓样癌(MTC)仅占甲状腺癌总数的3%:75%为散发性MTC(sMTC),25%为多发性内分泌瘤病2型(MEN2)中的遗传性MTC(hMTC)。在明确结节性甲状腺肿时,通过检测肿瘤标志物降钙素(Ctn),以及在 MEN2 家族中检测原癌基因 RET 的突变,可以进行早期诊断。如果降钙素水平只是轻微升高,女性不超过 30 pg/ml,男性不超过 60 pg/ml,则建议进行随访检查。如果Ctn水平较高,则应考虑手术治疗;如果Ctn水平大于100 pg/ml,则最好进行手术治疗。首选的治疗方法是全甲状腺切除术,并可能进行中央淋巴结切除术。在早期阶段,通过适当的手术可以治愈;在晚期阶段,可以选择使用酪氨酸激酶抑制剂进行治疗。所有 MTC 患者都应进行 RET A 基因突变分析。在随访过程中,要对以下几种情况进行生化区分:痊愈(Ctn 不明显偏低)、生化不完全(Ctn 增高但未发现肿瘤)和发现结构性肿瘤(影像学上有转移)。MTC 手术后,应提供以下结果,以便在后续治疗中进行分类:(i) 组织学,必要时进行 Ctn 免疫组织学检查;(ii) 根据 pTNM 方案进行分类;(iii) RET 分析结果,以便将其分为遗传变异型或散发性变异型;(iii) 术后 Ctn 值。肿瘤进展通过评估 Ctn 倍增时间和影像学 RECIST 标准来确定。在大多数情况下,可以进行 "积极监测"。在出现进展和症状的情况下,应采取以下措施:先进行局部治疗(姑息性手术、放疗),再进行全身治疗(酪氨酸激酶抑制剂)。
Critically evaluated key points on hereditary medullary thyroid carcinoma
Medullary thyroid carcinoma (MTC) accounts for only 3% of all thyroid carcinomas: 75% as sporadic MTC (sMTC) and 25% as hereditary MTC (hMTC) in the context of multiple endocrine neoplasia type 2 (MEN2). Early diagnosis is possible by determining the tumour marker calcitonin (Ctn) when clarifying nodular goitre and by detecting the mutation in the proto-oncogene RET in the MEN2 families. If the Ctn level is only slightly elevated, up to 30 pg/ml in women and up to 60 pg/ml in men, follow-up checks are advisable. At higher levels, surgery should be considered; at a level of > 100 pg/ml, surgery is always advisable. The treatment of choice is total thyroidectomy, possibly with central lymphadenectomy. In the early stage, cure is possible with adequate surgery; in the late stage, treatment with tyrosine kinase inhibitors is an option. RET A mutation analysis should be performed on all patients with MTC. During follow-up, a biochemical distinction is made between: healed (Ctn not measurably low), biochemically incomplete (Ctn increased without tumour detection) and structural tumour detection (metastases on imaging). After MTC surgery, the following results should be available for classification in follow-up care: (i) histology, Ctn immunohistology if necessary, (ii) classification according to the pTNM scheme, (iii) the result of the RET analysis for categorisation into the hereditary or sporadic variant and (iiii) the postoperative Ctn value. Tumour progression is determined by assessing the Ctn doubling time and the RECIST criteria on imaging. In most cases, “active surveillance” is possible. In the case of progression and symptoms, the following applies: local (palliative surgery, radiotherapy) before systemic (tyrosine kinase inhibitors).