同一患者发生多种类型肿瘤的病因分析  

Etiological analysis of a patient with multiple primary malignant neoplasms

作　　者：史沛杰 李延兵[1] 肖海鹏[1] Shi Peijie;Li Yanbing;Xiao Haipeng(Department of Endocrinology,the First Affiliated Hospital of Sun Yat-sen University,Guangzhou 510080,China)

机构地区：[1]中山大学附属第一医院内分泌内科,广州510080

出　　处：《中华医学杂志》2023年第47期3848-3851,共4页National Medical Journal of China

基　　金：国家自然科学基金面上项目(82271776);国家自然科学基金青年项目(82103083);中国博士后科学基金(2020M683125)

摘　　要：探讨1例患者发生多种类型肿瘤的病因。回顾性分析1例52岁女性患者,因“发现甲状腺占位1周”2021年10月7日就诊于中山大学附属第一医院内分泌内科。患者完善全身正电子发射计算机断层扫描检查提示甲状腺左叶结节代谢特点符合甲状腺髓样癌、甲状腺右叶结节代谢特点符合甲状腺乳头状癌,T 6~7水平占位代谢特点符合脊膜瘤,并在右侧卵巢区发现畸胎瘤。2021年10月20日行椎管内硬膜下肿物切除术,2021年11月2日行双侧甲状腺全切、甲状腺峡部切除、双侧中央区淋巴结清扫及左侧颈侧淋巴结清扫术,术后病理诊断为脊膜瘤(WHO 1级)、甲状腺髓样癌(左侧)、甲状腺乳头状癌(右侧)。胚系全外显子基因测序发现患者存在与发育不良相关的ACAN和FLNB基因突变以及与促增殖信号活跃和肿瘤易感相关的DDX41和JAK2基因突变。本研究发现了一种可能会导致同一患者发生多种类型肿瘤的基因突变模式。To investigate the etiology of multiple primary malignant neoplasms occurred in one patient.Retrospective analysis was performed on a 52-year-old female patient who was admitted to the Department of Endocrinology,the First Affiliated Hospital of Sun Yat-Sen University on October 7,2021,due to"thyroid occupying lesion for one week".A complete systemic positron emission tomography examination of the patient indicated that the metabolic characteristics of the left thyroid nodules were consistent with medullary thyroid carcinoma,those of the right thyroid nodules were consistent with papillary thyroid carcinoma,and the metabolic characteristics of the T 6-7 level were consistent with meningioma,and teratoma was found in the right ovarian region.Intradural subdural mass resection was performed on October 20,2021,and bilateral total thyroidectomy,isthmus thyroidectomy,bilateral central lymph node dissection and left cervical lymph node dissection were performed on November 2,2021.The postoperative pathologic diagnosises were meningioma(WHO Grade 1),medullary thyroid carcinoma(left side),and papillary thyroid carcinoma(right side).Whole exon gene sequencing revealed the presence of mutations in the ACAN and FLNB genes,which are associated with dysplasia,as well as mutations in the DDX41 and JAK2 genes,which are linked to active pro-proliferation signaling and tumor susceptibility.In this study,a gene mutation pattern which could lead to multiple primary malignant neoplasms was found.

关 键 词：甲状腺肿瘤 甲状腺髓样癌 甲状腺乳头状癌 脊膜瘤 畸胎瘤 多原发恶性肿瘤 全外显子测序 基因突变 

分 类 号：R736.1[医药卫生—肿瘤]