遗传性甲状腺髓样癌病例的遗传分析，该病例术前血清降钙素水平正常。
Genetic analysis of a hereditary medullary thyroid carcinoma case with normal preoperative serum calcitonin levels.
机构信息
Department of Breast and Thyroid Surgery, Daping Hospital, Army Military Medical University, Chongqing, 400042, China.
Department of Pathology, Daping Hospital, Army Military Medical University, Chongqing, 400042, China.
出版信息
Pathol Res Pract. 2019 Oct;215(10):152529. doi: 10.1016/j.prp.2019.152529. Epub 2019 Jul 29.
CONTEXT
Serum calcitonin is often elevated in medulla thyroid carcinoma (MTC) and thus serves as an indicator of primary and recurrent disease. However, there are MTC patients with normal Serum calcitonin and the underlying mechanisms are largely unknown.
CASE DESCRIPTION
A 48-year-old female patient presenting with a right anterior cervical mass was diagnosed with medullary carcinoma. She had elevated carcinoembryonic antigen (CEA) but normal Serum calcitonin levels. Next generation sequencing (NGS) of paired tumor and peripheral blood revealed a germline pathogenic RET mutation, indicating the hereditary nature of MTC in this patient. Two somatic loss-of-function mutations in DICER1 gene were also found, which we postulated to account for the normal calcitonin levels found in this patient. To our knowledge, this is the first report of a hereditary MTC case displaying a normal Serum calcitonin.
CONCLUSIONS
The case suggests NGS can be used in the diagnosis of hereditary MTC and exploring the reasons of normal Serum calcitonin in these patients.
背景
降钙素通常在甲状腺髓样癌（MTC）中升高，因此可作为原发性和复发性疾病的指标。然而，有些 MTC 患者的降钙素血清水平正常，其潜在机制在很大程度上尚不清楚。
病例描述
一名 48 岁女性患者因右侧颈前肿块就诊，被诊断为甲状腺髓样癌。她的癌胚抗原（CEA）升高，但降钙素血清水平正常。配对肿瘤和外周血的下一代测序（NGS）显示存在种系致病性 RET 突变，表明该患者的 MTC 具有遗传性。还发现 DICER1 基因中有两个体细胞失活突变，我们推测这解释了该患者降钙素水平正常的原因。据我们所知，这是首例报告显示降钙素血清正常的遗传性 MTC 病例。
结论
该病例提示 NGS 可用于遗传性 MTC 的诊断，并探索这些患者降钙素血清正常的原因。
Zotero 插件