-
-
表 1 RET基因突变位点与HMTC侵袭性和PHEO、HPTH、CLA、HD发生率的相关性
RET突变位点 外显子 MTC侵袭风险等级 PHEO发生率 HPTH发生率 CLA HD G533C 8 MOD + - N N C609F/G/R/S/Y 10 MOD +/++ + N Y C611F/G/S/Y/W 10 MOD +/++ + N Y C618F/R/S 10 MOD +/++ + N Y C620F/R/S 10 MOD +/++ + N Y C630R/Y 11 MOD +/++ + N N D631Y 11 MOD +++ - N N C634F/G/R/S/W/Y 11 H +++ ++ Y N K666E 11 MOD + - N N E768D 13 MOD - - N N L790F 13 MOD + - N N V804L 14 MOD + + N N V804M 14 MOD + + Y N A883F 15 H +++ - N N S891A 15 MOD + + N N R912P 16 MOD - - N N M918T 16 HST +++ - N N MTC：甲状腺髓样癌；PHEO：肾上腺嗜铬细胞瘤；HPTH：甲状旁腺功能亢进；CLA：皮肤苔藓淀粉样变；HD：先天性巨结肠；MOD：中等风险；H：高风险；HST：最高风险；Y：阳性；N：阴性；+：≤10%；++：11%~30%；+++：31%~50% 
下载: 导出CSV
-
[1] Peiling Yang S, Ngeow J. Familial non-medullary thyroid cancer: unraveling the genetic maze[J]. Endocr Relat Cancer, 2016, 23(12):R577-R595. [2] Stulp RP, Herkert JC, Karrenbeld A, et al. Thyroid cancer in a patient with a germline MSH2 mutation. Case report and review of the Lynch syndrome expanding tumour spectrum[J]. Hered Cancer Clin Pract, 2008, 6(1):15. doi: 10.1186/1897-4287-6-1-15 [3] Capezzone M, Marchisotta S, Cantara S, et al. Familial non-medullary thyroid carcinoma displays the features of clinical anticipation suggestive of a distinct biological entity[J]. Endocr Relat Cancer, 2008, 15(4):1075-1081. doi: 10.1677/ERC-08-0080 [4] Raue F, Frank-Raue K. Genotype-phenotype correlation in multiple endocrine neoplasia type 2[J]. Clinics (Sao Paulo), 2012, 67(Suppl 1):69-75. [5] Smith DP, Houghton C, Ponder BA. Germline mutation of RET Codon 883 in two cases of de novo MEN 2B[J]. Oncogene, 1997, 15(10):1213-1217. doi: 10.1038/sj.onc.1201481 [6] 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. doi: 10.1089/thy.2014.0335 [7] Yu Y, Dong L, Li DP, et al. Targeted DNA sequencing detects mutations related to susceptibility among familial non-medullary thyroid cancer[J]. Sci Rep, 2015, 5:16129. doi: 10.1038/srep16129 [8] Cetta F, Montalto G, Gori M, et al. Germline mutations of the APC gene in patients with familial adenomatous polyposis-associated thyroid carcinoma: results from a European cooperative study[J]. J Clin Endocrinol Metab, 2000, 85(1):286-292. [9] Hińcza K, Kowalik A, Kowalska A. Current knowledge of germline genetic risk factors for the development of non-medullary thyroid cancer[J]. Genes (Basel), 2019, 10(7):E482. doi: 10.3390/genes10070482 [10] Srivastava A, Miao BP, Skopelitou D, et al. A germline mutation in the POT1 gene is a candidate for familial non-medullary thyroid cancer[J]. Cancers (Basel), 2020, 12(6):E1441. doi: 10.3390/cancers12061441 [11] McKay JD, Thompson D, Lesueur F, et al. Evidence for interaction between the TCO and NMTC1 loci in familial non-medullary thyroid cancer[J]. J Med Genet, 2004, 41(6):407-412. doi: 10.1136/jmg.2003.017350 [12] Navas-Carrillo D, Ríos A, Rodríguez JM, et al. Familial nonmedullary thyroid cancer: screening, clinical, molecular and genetic findings[J]. Biochim Biophys Acta, 2014, 1846(2):468-476. [13] Capezzone M, Robenshtok E, Cantara S, et al. Familial non-medullary thyroid cancer: a critical review[J]. J Endocrinol Invest, 2021, 44(5):943-950. doi: 10.1007/s40618-020-01435-x [14] Plon SE, Eccles DM, Easton D, et al. Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results[J]. Hum Mutat, 2008, 29(11):1282-1291. doi: 10.1002/humu.20880 [15] 罗定远,廖健伟.甲状腺癌基因检测与临床应用广东专家共识(2020版)[J].中华普通外科学文献(电子版),2020,14(3):161-168. [16] Li JM, Li HR, Yang Y, et al. The KWAK TI-RADS and 2015 ATA guidelines for medullary thyroid carcinoma: combined with cell block-assisted ultrasound-guided thyroid fine-needle aspiration[J]. Clin Endocrinol (Oxf), 2020, 92(5):450-460. [17] Zhao J, Yang F, Wei X, et al. Ultrasound features value in the diagnosis and prognosis of medullary thyroid carcinoma[J]. Endocrine, 2021, 72(3):727-734. doi: 10.1007/s12020-020-02510-2 [18] Trimboli P, Treglia G, Guidobaldi L, et al. Detection rate of FNA cytology in medullary thyroid carcinoma: a meta-analysis[J]. Clin Endocrinol (Oxf), 2015, 82(2):280-285. doi: 10.1111/cen.12563 [19] Niederle B. Screening for medullary carcinoma of the thyroid[J]. Br J Surg, 2014, 101(13):1625-1626. [20] Verbeek HH, de Groot JWB, Sluiter WJ, et al. Calcitonin testing for detection of medullary thyroid cancer in people with thyroid nodules[J]. Cochrane Database Syst Rev, 2020, 3(3):CD010159. [21] Giannetta E, Guarnotta V, Altieri B, et al. ENDOCRINE TUMOURS: Calcitonin in thyroid and extra-thyroid neuroendocrine neoplasms: the two-faced Janus[J]. Eur J Endocrinol, 2020, 183(6):R197-R215. doi: 10.1530/EJE-20-0506 [22] Giovanella L, Treglia G, Iakovou I, et al. EANM practice guideline for PET/CT imaging in medullary thyroid carcinoma[J]. Eur J Nucl Med Mol Imaging, 2020, 47(1):61-77. doi: 10.1007/s00259-019-04458-6 [23] 王宇,田文,嵇庆海,等.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. [24] Weber T, Schilling T, Frank-Raue K, et al. Impact of modified radical neck dissection on biochemical cure in medullary thyroid carcinomas[J]. Surgery, 2001, 130(6):1044-1049. doi: 10.1067/msy.2001.118380a [25] Tappenden P, Carroll C, Hamilton J, et al. Cabozantinib and vandetanib for unresectable locally advanced or metastatic medullary thyroid cancer: a systematic review and economic model[J]. Health Technol Assess, 2019, 23(8):1-144. [26] Ruan XH, Shi XL, Dong QM, et al. Antitumor effects of anlotinib in thyroid cancer[J]. Endocr Relat Cancer, 2019, 26(1):153-164. doi: 10.1530/ERC-17-0558 [27] Chen J, Ji Q, Bai C, et al. Surufatinib in chinese patients with locally advanced or metastatic differentiated thyroid cancer and medullary thyroid cancer: a multicenter, open-label, phase Ⅱ trial[J]. Thyroid. 2020, 30(9): 1245-1253. [28] Drusbosky LM, Rodriguez E, Dawar R, et al. Therapeutic strategies in RET gene rearranged non-small cell lung cancer[J]. J Hematol Oncol, 2021, 14(1):50. doi: 10.1186/s13045-021-01063-9 [29] Subbiah V, Hu MI, Wirth LJ, et al. Pralsetinib for patients with advanced or metastatic RET-altered thyroid cancer (ARROW): a multi-cohort, open-label, registrational, phase 1/2 study[J]. Lancet Diabetes Endocrinol, 2021, 9(8):491-501. doi: 10.1016/S2213-8587(21)00120-0 [30] Rowland KJ, Chernock RD, Moley JF. Pheochromocytoma in an 8-year-old patient with multiple endocrine neoplasia type 2A: implications for screening[J]. J Surg Oncol, 2013, 108(4):203-206. doi: 10.1002/jso.23378 [31] Ammar SA, Alobuia WM, Kebebew E. An update on familial nonmedullary thyroid cancer[J]. Endocrine, 2020, 68(3):502-507. doi: 10.1007/s12020-020-02250-3 [32] Ito Y, Hirokawa M, Higashiyama T, et al. Biological behavior of papillary carcinoma of the thyroid including squamous cell carcinoma components and prognosis of patients who underwent locally curative surgery[J]. J Thyroid Res, 2012, 2012:230283. [33] El Lakis M, Giannakou A, Nockel PJ, et al. Do patients with familial nonmedullary thyroid cancer present with more aggressive disease? Implications for initial surgical treatment[J]. Surgery, 2019, 165(1):50-57. doi: 10.1016/j.surg.2018.05.075 [34] Mazeh H, Benavidez J, Poehls JL, et al. In patients with thyroid cancer of follicular cell origin, a family history of nonmedullary thyroid cancer in one first-degree relative is associated with more aggressive disease[J]. Thyroid, 2012, 22(1):3-8. doi: 10.1089/thy.2011.0192 [35] Capezzone M, Fralassi N, Secchi C, et al. Long-term clinical outcome in familial and sporadic papillary thyroid carcinoma[J]. Eur Thyroid J, 2020, 9(4):213-220. doi: 10.1159/000506955 [36] Park YJ, Ahn HY, Choi HS, et al. The long-term outcomes of the second generation of familial nonmedullary thyroid carcinoma are more aggressive than sporadic cases[J]. Thyroid, 2012, 22(4):356-362. doi: 10.1089/thy.2011.0163 -
点击查看大图
表(1)
计量
- 文章访问数: 324
- HTML全文浏览量: 29
- PDF下载量: 221
- 被引次数: 0
