Journal of Internal Medicine Concepts & Practice >
Establishment and application of molecular diagnostic platform for endocrine tumors
YE Lei, WANG Weiqing . Establishment and application of molecular diagnostic platform for endocrine tumors[J]. Journal of Internal Medicine Concepts & Practice, 2023 , 18(04) : 227 -229 . DOI: 10.16138/j.1673-6087.2023.04.002
[1] | Takahashi M, Ritz J, Cooper GM. Activation of a novel human transforming gene, ret, by DNA rearrangement[J]. Cell, 1985, 42(2): 581-588. |
[2] | Mulligan LM, Kwok JB, Healey CS, et al. Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A[J]. Nature, 1993, 363(6428): 458-460. |
[3] | 陈家伦, 宁光, 主编. 临床内分泌学[M]. 2版. 上海: 上海科学技术出版社, 2022: 1691-1694. |
[4] | Wells SA Jr, Asa SL, Dralle H, et al. Revised American Thyroid Association guidelines for the management of medullary thyroid carcinoma[J]. Thyroid, 2015, 25(6): 567-610. |
[5] | Wirth LJ, Sherman E, Robinson B, et al. Efficacy of selpercatinib in RET-altered thyroid cancers[J]. N Engl J Med, 2020, 383(9): 825-835. |
[6] | Lenders JW, Duh QY, Eisenhofer G, et al. Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline[J]. J Clin Endocrinol Metab, 2014, 99(6): 1915-1942. |
[7] | 中国抗癌协会神经内分泌肿瘤专业委员会. 中国抗癌协会神经内分泌肿瘤诊治指南(2022年版)[J]. 中国癌症杂志, 2022, 32(6): 545-580. |
[8] | 中国医师协会外科医师分会甲状腺外科医师委员会, 中国抗癌协会甲状腺癌专业委员会, 中国研究型医院学会甲状腺疾病专业委员会. 甲状腺髓样癌诊断与治疗中国专家共识(2020版)[J]. 中国实用外科杂志, 2020, 40(9): 1012-1020. |
[9] | Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology[J]. Genet Med, 2015, 17(5): 405-424. |
[10] | Li MM, Datto M, Duncavage EJ, et al. Standards and guidelines for the interpretation and reporting of sequence variants in cancer: a joint consensus recommendation of the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists[J]. J Mol Diagn, 2017, 19(1): 4-23. |
[11] | 李浩榕, 叶蕾. 甲状腺结节良恶性的分子分型研究[J]. 内科理论与实践, 2023, 18(4): 266-269. |
[12] | 张翼飞, 洪洁, 赵咏桔, 等. RET原癌基因点突变所致多发性内分泌腺瘤病2B型一例家系研究[J]. 中华内科杂志, 2003, 42(1): 20-23. |
[13] | Cao Y, He M, Gao Z, et al. Activating hotspot L205R mutation in PRKACA and adrenal Cushing’s syndrome[J]. Science, 2014, 344(6186): 913-917. |
[14] | Cao Y, Gao Z, Li L, et al. Whole exome sequencing of insulinoma reveals recurrent T372R mutations in YY1[J]. Nat Commun, 2013, 4: 2810. |
[15] | Ye L, Zhou X, Huang F, et al. The genetic landscape of benign thyroid nodules revealed by whole exome and transcriptome sequencing[J]. Nat Commun, 2017, 8: 15533. |
[16] | Zhong X, Ye L, Su T, et al. Establishment and evaluation of a novel biomarker-based nomogram for malignant phaeochromocytomas and paragangliomas[J]. Clin Endocrinol (Oxf), 2017, 87(2): 127-135. |
[17] | Zhang C, Wu L, Jiang L, et al. KCNJ5 mutation contributes to complete clinical success in aldosterone-producing adenoma[J]. Endocr Pract, 2021, 27(7): 736-742. |
/
〈 |
|
〉 |