内分泌外科中的基因检测：精准手术的机遇。
Genetic testing in endocrine surgery: Opportunities for precision surgery.
机构信息
Department of Surgery and Stanford Cancer Institute, Stanford University School of Medicine, CA.
Department of Medicine, Division of Endocrinology, Stanford University School of Medicine, CA.
出版信息
Surgery. 2020 Aug;168(2):328-334. doi: 10.1016/j.surg.2020.03.009. Epub 2020 May 4.
Abstract
Recent innovations in molecular and genetic diagnostic techniques have led to rapid advances in genomic medicine and their application to the clinic. The identification and classification of various genetic associations, syndromes, and susceptibility genes in endocrine surgical disorders are increasingly relevant to patient care. Hereditary endocrine disorders represent a significant proportion of disease encountered by endocrine surgeons. Hence, genetic testing has emerged as an important adjunct for the diagnosis and management of patients with endocrine surgical disorders. This article summarizes commonly encountered inherited endocrine disorders and their tumor susceptibility genes, with a focus on the clinical utility of genetic testing and its impact on the surgical management of endocrine disorders.
摘要
近年来，分子和遗传诊断技术的创新使得基因组医学取得了快速进展，并将其应用于临床实践。在内分泌外科疾病中，各种遗传关联、综合征和易感基因的鉴定和分类与患者的治疗越来越相关。遗传性内分泌疾病在内分泌外科医生所遇到的疾病中占很大比例。因此，基因检测已成为内分泌外科疾病患者诊断和治疗的重要辅助手段。本文总结了常见的遗传性内分泌疾病及其肿瘤易感性基因，重点介绍了基因检测的临床应用及其对内分泌疾病手术管理的影响。
相似文献
1
Genetic testing in endocrine surgery: Opportunities for precision surgery.内分泌外科中的基因检测：精准手术的机遇。
Surgery. 2020 Aug;168(2):328-334. doi: 10.1016/j.surg.2020.03.009. Epub 2020 May 4.
2
Surgical approaches in hereditary endocrine tumors.遗传性内分泌肿瘤的手术治疗方法
Updates Surg. 2017 Jun;69(2):181-191. doi: 10.1007/s13304-017-0451-y. Epub 2017 Apr 28.
3
Genetic testing by cancer site: endocrine system.按癌症部位进行的基因检测：内分泌系统。
Cancer J. 2012 Jul-Aug;18(4):364-71. doi: 10.1097/PPO.0b013e3182609458.
4
Endocrine tumors as part of inherited tumor syndromes.内分泌肿瘤作为遗传性肿瘤综合征的一部分。
Adv Anat Pathol. 2011 May;18(3):206-18. doi: 10.1097/PAP.0b013e3182169916.
5
Endocrine cancer predisposition syndromes: hereditary paraganglioma, multiple endocrine neoplasia type 1, multiple endocrine neoplasia type 2, and hereditary thyroid cancer.内分泌癌易患综合征：遗传性副神经节瘤、多发性内分泌腺肿瘤 1 型、多发性内分泌腺肿瘤 2 型和遗传性甲状腺癌。
Hematol Oncol Clin North Am. 2010 Oct;24(5):907-37. doi: 10.1016/j.hoc.2010.06.008.
6
Surgical management of MEN-1 and -2: state of the art.MEN-1和MEN-2的外科治疗：最新进展
Surg Clin North Am. 2009 Oct;89(5):1047-68. doi: 10.1016/j.suc.2009.06.016.
7
Update on the molecular diagnosis of endocrine tumors: toward -omics-based personalized healthcare?内分泌肿瘤分子诊断的最新进展：迈向基于组学的个性化医疗？
J Clin Endocrinol Metab. 2008 Apr;93(4):1097-104. doi: 10.1210/jc.2008-0212.
8
Endocrine surgery.内分泌外科
J Am Coll Surg. 1998 Feb;186(2):141-8. doi: 10.1016/s1072-7515(98)00066-0.
9
[Clinical characteristics of multiple endocrine neoplasia].[多发性内分泌腺瘤病的临床特征]
Bull Acad Natl Med. 2010 Jan;194(1):69-78; discussion 78-9.
10
The Great Masquerador: A Young Female with Multiple Endocrine Neoplasia Type 2A and Bilateral Pheochromocytomas.隐匿的大伪装者：一名患有2A型多发性内分泌腺瘤病及双侧嗜铬细胞瘤的年轻女性。
Am J Med. 2019 Nov;132(11):e767-e770. doi: 10.1016/j.amjmed.2019.04.034. Epub 2019 May 17.
引用本文的文献
1
coupled use of central-vein isolation and tubeless treatment in laparoscopic adrenalectomy.腹腔镜肾上腺切除术中中心静脉隔离与无管化治疗的联合应用。
Surg Pract Sci. 2023 Apr 8;13:100164. doi: 10.1016/j.sipas.2023.100164. eCollection 2023 Jun.
2
c.1155-3A>G is a pathogenic variant that causes aberrant splicing, disrupted parafibromin expression, and hyperparathyroidism-jaw tumor syndrome.c.1155-3A>G是一种致病变异，可导致异常剪接、副纤维蛋白表达中断以及甲状旁腺功能亢进-颌骨肿瘤综合征。
JBMR Plus. 2024 Nov 19;9(1):ziae149. doi: 10.1093/jbmrpl/ziae149. eCollection 2025 Jan.
3
Clinical outcomes of combined cervical and transthoracic surgical approaches in patients with advanced thyroid cancer.晚期甲状腺癌患者联合颈部和经胸手术入路的临床结局
Head Neck. 2023 Mar;45(3):547-554. doi: 10.1002/hed.27260. Epub 2022 Dec 16.
4
Molecular genetic testing strategies used in diagnostic flow for hereditary endocrine tumour syndromes.遗传性内分泌肿瘤综合征诊断流程中使用的分子遗传学检测策略。
Endocrine. 2021 Mar;71(3):641-652. doi: 10.1007/s12020-021-02636-x. Epub 2021 Feb 11.
本文引用的文献
1
Clinical, Diagnostic, and Treatment Characteristics of -Related Metastatic Pheochromocytoma and Paraganglioma.与[具体内容缺失]相关的转移性嗜铬细胞瘤和副神经节瘤的临床、诊断及治疗特征
Front Oncol. 2019 Feb 22;9:53. doi: 10.3389/fonc.2019.00053. eCollection 2019.
2
Do patients with familial nonmedullary thyroid cancer present with more aggressive disease? Implications for initial surgical treatment.家族性非髓样甲状腺癌患者的疾病是否更具侵袭性？对初始手术治疗的影响。
Surgery. 2019 Jan;165(1):50-57. doi: 10.1016/j.surg.2018.05.075. Epub 2018 Oct 14.
3
Medullary Thyroid Carcinoma: Survival Analysis and Evaluation of Mutation-Specific Immunohistochemistry in Detection of Sporadic Disease.髓样甲状腺癌：散发性疾病检测中生存分析及突变特异性免疫组化评估
World J Surg. 2018 May;42(5):1432-1439. doi: 10.1007/s00268-018-4551-8.
4
Probability of Positive Genetic Testing Results in Patients with Family History of Primary Hyperparathyroidism.具有原发性甲状旁腺功能亢进家族史患者的阳性基因检测结果的概率。
J Am Coll Surg. 2018 May;226(5):933-938. doi: 10.1016/j.jamcollsurg.2018.01.007. Epub 2018 Mar 2.
5
In silico VHL Gene Mutation Analysis and Prognosis of Pancreatic Neuroendocrine Tumors in von Hippel-Lindau Disease.基于计算机的 von Hippel-Lindau 病胰腺神经内分泌肿瘤 VHL 基因突变分析与预后预测。
J Clin Endocrinol Metab. 2018 Apr 1;103(4):1631-1638. doi: 10.1210/jc.2017-02434.
6
Preoperative genetic testing in pheochromocytomas and paragangliomas influences the surgical approach and the extent of adrenal surgery.嗜铬细胞瘤和副神经节瘤的术前基因检测会影响手术方式及肾上腺手术范围。
Surgery. 2018 Jan;163(1):191-196. doi: 10.1016/j.surg.2017.05.025. Epub 2017 Nov 7.
7
Genotype-phenotype pancreatic neuroendocrine tumor relationship in multiple endocrine neoplasia type 1 patients: A 23-year experience at a single institution.1型多发性内分泌腺瘤患者中胰腺神经内分泌肿瘤的基因型-表型关系：一家机构的23年经验
Surgery. 2018 Jan;163(1):212-217. doi: 10.1016/j.surg.2017.04.044. Epub 2017 Nov 6.
8
Familial isolated primary hyperparathyroidism associated with germline GCM2 mutations is more aggressive and has a lesser rate of biochemical cure.与种系GCM2突变相关的家族性孤立性原发性甲状旁腺功能亢进更具侵袭性，生化治愈的几率更低。
Surgery. 2018 Jan;163(1):31-34. doi: 10.1016/j.surg.2017.04.027. Epub 2017 Nov 3.
9
Association of VHL Genotype With Pancreatic Neuroendocrine Tumor Phenotype in Patients With von Hippel-Lindau Disease.von Hippel-Lindau 病患者的 VHL 基因型与胰腺神经内分泌肿瘤表型的关联。
JAMA Oncol. 2018 Jan 1;4(1):124-126. doi: 10.1001/jamaoncol.2017.3428.
10
Long-Term Natural Course of Small Nonfunctional Pancreatic Neuroendocrine Tumors in MEN1-Results From the Dutch MEN1 Study Group.MEN1 荷兰研究组：MEN1 患者中小的无功能性胰腺神经内分泌肿瘤的长期自然病程。
J Clin Endocrinol Metab. 2017 Oct 1;102(10):3795-3805. doi: 10.1210/jc.2017-00372.
Zotero 插件