| [1] |
Drilon A, Hu ZI, Lai G, et al. Targeting RET-driven cancers: lessons from evolving preclinical and clinical landscapes[J]. Nat Rev Clin Oncol, 2018, 15(3): 151-167.
|
| [2] |
Goodman KM, Kjær S, Beuron F, et al. RET recognition of GDNF-GFRalpha1 ligand by a composite binding site promotes membrane-proximal self-association[J]. Cell Rep, 2014, 8(6): 1894-1904.
|
| [3] |
Takahashi M, Kawai K, Asai N. Roles of the RET proto-oncogene in cancer and development[J]. JMA J, 2020, 3(3): 175-181.
|
| [4] |
Gabreski NA, Vaghasia JK, Novakova SS, et al. Exon skipping in the RET gene encodes novel isoforms that differentially regulate RET protein signal transduction[J]. J Biol Chem, 2016, 291(31): 16249-16262.
|
| [5] |
Lian EY, Maritan SM, Cockburn JG, et al. Differential roles of RET isoforms in medullary and papillary thyroid carcinomas[J]. Endocr Relat Cancer, 2017, 24(1): 53-69.
|
| [6] |
Mizukami T, Shiraishi K, Shimada Y, et al. Molecular mechanisms underlying oncogenic RET fusion in lung adenocarcinoma[J]. J Thorac Oncol, 2014, 9(5): 622-630.
|
| [7] |
Lehman CE, Dillon LW, Nikiforov YE, et al. DNA fragile site breakage as a measure of chemical exposure and predictor of individual susceptibility to form oncogenic rearrangements[J]. Carcinogenesis, 2017, 38(3): 293-301.
|
| [8] |
Santoro M, Carlomagno F. Central role of RET in thyroid cancer[J]. Cold Spring Harb Perspect Biol, 2013, 5(12): a009233.
|
| [9] |
Romei C, Elisei R. A narrative review of genetic alterations in primary thyroid epithelial cancer[J]. Int J Mol Sci, 2021, 22(4): 1726.
|
| [10] |
广东省医学教育协会甲状腺专业委员会，广东省基层医药学会细胞病理与分子诊断专业委员会. 甲状腺癌基因检测与临床应用广东专家共识(2020版)[J/CD]. 中华普通外科学文献(电子版), 2020, 14(3): 161-168.
|
| [11] |
Pekova B, Sykorova V, Dvorakova S, et al. RET, NTRK, ALK, BRAF, and MET fusions in a large cohort of pediatric papillary thyroid carcinomas[J]. Thyroid, 2020, 30(12): 1771-1780.
|
| [12] |
Raue F, Frank-Raue K. Update on multiple endocrine neoplasia type 2: focus on medullary thyroid carcinoma[J]. J Endocr Soc, 2018, 2(8): 933-943.
|
| [13] |
Yasir M, Mulji NJ, Kasi A. Multiple endocrine neoplasias type 2[M]. In: StatPearls. edn. Treasure Island (FL): StatPearls Publishing, 2021.
|
| [14] |
Amodru V, Taieb D, Guerin C, et al. MEN2-related pheochromocytoma: current state of knowledge, specific characteristics in MEN2B, and perspectives[J]. Endocrine, 2020, 69(3): 496-503.
|
| [15] |
Santoro M, Carlomagno F, Romano A, et al. Activation of RET as a dominant transforming gene by germline mutations of MEN2A and MEN2B[J]. Science, 1995, 267(5196): 381-383.
|
| [16] |
Romei C, Ciampi R, Elisei R. A comprehensive overview of the role of the RET proto-oncogene in thyroid carcinoma[J]. Nat Rev Endocrinol, 2016, 12(4): 192-202.
|
| [17] |
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.
|
| [18] |
Revised American Thyroid Association Guidelines for the Management of Medullary Thyroid Carcinoma[J]. Pediatrics, 2018, 142(6): e20183062.
|
| [19] |
Romei C, Cosci B, Renzini G, et al. RET genetic screening of sporadic medullary thyroid cancer (MTC) allows the preclinical diagnosis of unsuspected gene carriers and the identification of a relevant percentage of hidden familial MTC (FMTC)[J]. Clin Endocrinol (Oxf), 2011, 74(2): 241-247.
|
| [20] |
Agrawal N, Jiao Y, Sausen M, et al. Exomic sequencing of medullary thyroid cancer reveals dominant and mutually exclusive oncogenic mutations in RET and RAS[J]. J Clin Endocrinol Metab, 2013, 98(2): E364-E369.
|
| [21] |
den Dunnen JT, Dalgleish R, Maglott DR, et al. HGVS recommendations for the description of sequence variants: 2016 update[J]. Hum Mutat, 2016, 37(6): 564-569.
|
| [22] |
Belli C, Penault-Llorca F, Ladanyi M, et al. ESMO recommendations on the standard methods to detect RET fusions and mutations in daily practice and clinical research[J]. Ann Oncol, 2021, 32(3): 337-350.
|
| [23] |
Phay JE, Shah MH. Targeting RET receptor tyrosine kinase activation in cancer[J]. Clin Cancer Res, 2010, 16(24): 5936-5941.
|
| [24] |
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.
|
| [25] |
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.
|
| [26] |
Wells SA Jr. Advances in the management of MEN2: from improved surgical and medical treatment to novel kinase inhibitors[J]. Endocr Relat Cancer, 2018, 25(2): T1-T13.
|
| [27] |
中华人民共和国国家卫生健康委员会. 甲状腺癌诊疗规范(2018年版)[J/CD]. 中华普通外科学文献(电子版), 2019, 13(1):1-15.
|
| [28] |
Wells SA Jr, Robinson BG, Gagel RF, et al. Vandetanib in patients with locally advanced or metastatic medullary thyroid cancer: A randomized, double-blind phase Ⅲ trial[J]. J Clin Oncol, 2012, 30(2): 134-141.
|
| [29] |
Milling RV, Grimm D, Krüger M, et al. Pazopanib, cabozantinib, and vandetanib in the treatment of progressive medullary thyroid cancer with a special focus on the adverse effects on hypertension[J]. Int J Mol Sci, 2018, 19(10): 3258.
|
| [30] |
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.
|
| [31] |
Plenker D, Riedel M, Brägelmann J, et al. Drugging the catalytically inactive state of RET kinase in RET-rearranged tumors[J]. Sci Transl Med, 2017, 9(394): eaah6144.
|
| [32] |
Subbiah V, Yang D, Velcheti V, et al. State-of-the-art strategies for targeting RET-dependent cancers[J]. J Clin Oncol, 2020, 38(11): 1209-1221.
|
| [33] |
Okafor C, Hogan J, Raygada M, et al. Update on targeted therapy in medullary thyroid cancer[J]. Front Endocrinol (Lausanne), 2021, 12: 708949.
|
| [34] |
Salvatore D, Santoro M, Schlumberger M. The importance of the RET gene in thyroid cancer and therapeutic implications[J]. Nat Rev Endocrinol, 2021, 17(5): 296-306.
|
| [35] |
Konstantinidis A, Stang M, Roman SA, et al. Surgical management of medullary thyroid carcinoma[J]. Updates Surg, 2017, 69(2): 151-160.
|
| [36] |
Kim M, Kim BH. Current guidelines for management of medullary thyroid carcinoma[J]. Endocrinol Metab (Seoul), 2021, 36(3): 514-524.
|
| [37] |
Sosa JA, Tuggle CT, Wang TS, et al. Clinical and economic outcomes of thyroid and parathyroid surgery in children[J]. J Clin Endocrinol Metab, 2008, 93(8): 3058-3065.
|
| [38] |
Staubitz JI, Bode J, Poplawski A, et al. Thyroid surgery in children and young adults: potential overtreatment and complications[J]. Langenbecks Arch Surg, 2020, 405(4): 451-460.
|
| [39] |
Ceolin L, Duval M, Benini AF, et al. Medullary thyroid carcinoma beyond surgery: advances, challenges, and perspectives[J]. Endocr Relat Cancer, 2019, 26(9): R499-R518.
|
| [40] |
Skinner MA, Moley JA, Dilley WG, et al. Prophylactic thyroidectomy in multiple endocrine neoplasia type 2A[J]. N Engl J Med, 2005, 353(11): 1105-1113.
|
| [41] |
Machens A, Lorenz K, Weber F, et al. Genotype-specific progression of hereditary medullary thyroid cancer[J]. Hum Mutat, 2018, 39(6): 860-869.
|
| [42] |
Prete FP, Abdel-Aziz T, Morkane C, et al. Prophylactic thyroidectomy in children with multiple endocrine neoplasia type 2[J]. Br J Surg, 2018, 105(10): 1319-1327.
|
| [43] |
Waguespack SG, Rich TA. Multiple endocrine neoplasia [corrected] syndrome type 2B in early childhood: long-term benefit of prophylactic thyroidectomy[J]. Cancer, 2010, 116(9): 2284.
|
| [44] |
Fan HC, Gu W, Wang J, et al. Non-invasive prenatal measurement of the fetal genome[J]. Nature, 2012, 487(7407): 320-324.
|
| [45] |
Lietman SA. Preimplantation genetic diagnosis for hereditary endocrine disease[J]. Endocr Pract, 2011, 17 (Suppl 3): 28-32.
|
| [46] |
Altarescu G, Barenholz O, Renbaum P, et al. Preimplantation genetic diagnosis (PGD)--prevention of the birth of children affected with endocrine diseases[J]. J Pediatr Endocrinol Metab, 2011, 24(7-8): 543-548.
|
| [47] |
Martín J, Cervero A, Mir P, et al. The impact of next-generation sequencing technology on preimplantation genetic diagnosis and screening[J]. Fertil Steril, 2013, 99(4): 1054-1061. e3.
|