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散发性甲状腺髓样癌在 Graves 病中的发生与 RET 原癌基因突变有关。

Occurrence of sporadic medullary thyroid carcinoma in Graves' disease in association with a RET proto-oncogene mutation.

机构信息

Department of Endocrinology, Université Catholique de Louvain, Yvoir, Belgium.

Department of Pathology, Université Catholique de Louvain, Yvoir, Belgium.

出版信息

Acta Clin Belg. 2022 Jun;77(3):596-599. doi: 10.1080/17843286.2021.1920124. Epub 2021 Apr 29.

DOI:10.1080/17843286.2021.1920124
PMID:33913798
Abstract

BACKGROUND

Graves' disease may be associated with thyroid cancer, particularly differentiated thyroid cancer. Medullary thyroid cancer (MTC) is less common. The occurrence of sporadic MTC in Graves' disease in the presence of a RET proto-oncogene has never been reported.

CLINICAL PRESENTATION

A 63-year-old woman was referred for Graves' disease. A thyroid ultrasound disclosed five nodules, one of which was classified as Eu-Tirads 5 with a size of 6.7 × 6.5× 11 mm. Fine needle aspiration was reported as Bethesda class IV follicular neoplasm of a Hürthle cell subtype. Calcitonin level was found to be elevated. A total thyroidectomy confirmed the diagnosis of MTC and a bilateral cervical lymphadenectomy was performed, with four lymph nodes being infiltrated by MTC. Genetic testing revealed a M918T mutation in the RET proto-oncogene.

CONCLUSION

MTC may occur in Graves' disease, especially if a nodule is present. In this case, genetic testing should always be performed even if MTC is sporadic. Increased incidence of thyroid cancer in autoimmune thyroid diseases, as well as the link existing between autoimmunity, inflammation and carcinogenesis, leads us to hypothesize that the association here reported is not coincidental.

摘要

背景

格雷夫斯病可能与甲状腺癌有关,尤其是分化型甲状腺癌。甲状腺髓样癌(MTC)则较为少见。在存在 RET 原癌基因的情况下,格雷夫斯病中偶发的 MTC 从未有过报道。

临床表现

一名 63 岁女性因格雷夫斯病就诊。甲状腺超声显示有五个结节,其中一个结节被归类为 Eu-Tirads 5 级,大小为 6.7×6.5×11mm。细针穿刺报告为 Bethesda Ⅳ级滤泡性肿瘤,Hürthle 细胞亚型。降钙素水平升高。甲状腺全切除术证实了 MTC 的诊断,并进行了双侧颈淋巴结清扫术,有四个淋巴结被 MTC 浸润。基因检测显示 RET 原癌基因存在 M918T 突变。

结论

MTC 可能发生在格雷夫斯病中,尤其是存在结节时。在这种情况下,即使 MTC 是偶发的,也应始终进行基因检测。自身免疫性甲状腺疾病中甲状腺癌的发病率增加,以及自身免疫、炎症和癌变之间存在联系,使我们假设这里报道的关联并非偶然。

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Acta Endocrinol (Buchar). 2022 Jul-Sep;18(3):368-374. doi: 10.4183/aeb.2022.368.