[1]赵冰,马瑜瑾,卫利民,等.1例MEN2B病例报道及患者预后情况文献复习[J].国际内分泌代谢杂志,2022,42(05):391-395.[doi:10.3760/cma.j.cn121383-20210328-03074]
 Zhao Bing,Ma Yujin,Wei Limin,et al.A case report of MEN2B and literature review[J].International Journal of Endocrinology and Metabolism,2022,42(05):391-395.[doi:10.3760/cma.j.cn121383-20210328-03074]
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1例MEN2B病例报道及患者预后情况文献复习()
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《国际内分泌代谢杂志》[ISSN:1673-4157/CN:12-1383/R]

卷:
42
期数:
2022年05期
页码:
391-395
栏目:
病例报告
出版日期:
2022-09-20

文章信息/Info

Title:
A case report of MEN2B and literature review
作者:
赵冰1马瑜瑾1卫利民2黄诚3邓琼琼1
1河南科技大学临床医学院,河南科技大学第一附属医院内分泌代谢科,洛阳市内分泌代谢病临床医学研究中心,河南省遗传罕见病医学重点实验室 471003; 2河南科技大学第一附属医院甲乳外科,洛阳 471003; 3河南科技大学第一附属医院核医学科,洛阳 471003
Author(s):
Zhao Bing1 Ma Yujin1 Wei Limin2 Huang Cheng2 Deng Qiongqiong1
1Medical Key Laboratory of Hereditary Rare Diseases of Henan, Luoyang City Clinical Research for Endocrinology and Metabolism, Department of Endocrinology and Metabolism, The First Affiliated Hospital, and College of Clinical Medicine of Henan University of Science and Technology, Luoyang 471003, China; 2Department of Nail Breast Surgery, the First Affiliated Hospital of Henan University of Science and Technology, Luoyang 471003, China; 3Department of Nuclear Medicine, The First Affiliated Hospital of Henan University of Science and Technology, Luoyang 471003, China
DOI:
10.3760/cma.j.cn121383-20210328-03074

参考文献/References:

[1] Al-Salameh A,Baudry C,Cohen R.Update on multiple endocrine neoplasia type 1 and 2[J].Presse Med,2018,47(9):722-731.DOI:10.1016/j.lpm.2018.03.005.
[2] 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.DOI:10.19538/j.cjps.issn1005-2208.2020.09.03.
[3] Brauckhoff M,Machens A,Hess S,et al.Premonitory symptoms preceding metastatic medullary thyroid cancer in MEN2B:An exploratory analysis[J].Surgery,2008,144(6):1044-1050; discussion 1050-1053.DOI:10.1016/j.surg.2008.08.028.
[4] Raue F,Dralle H,Machens A,et al.Long-Term survivorship in multiple endocrine neoplasia type 2B diagnosed before and in the new millennium[J].J Clin Endocrinol Metab,2018,103(1):235-243.DOI:10.1210/jc.2017-01884.
[5] Raue F,Kotzerke J,Reinwein D,et al.Prognostic factors in medullary thyroid carcinoma:evaluation of 741 patients from the German Medullary Thyroid Carcinoma Register[J].Clin Investig,1993,71(1):7-12.DOI:10.1007/BF00210956.
[6] Cupisti K,Wolf A,Raffel A,et al.Long-term clinical and biochemical follow-up in medullary thyroid carcinoma:a single institution's experience over 20 years[J].Ann Surg,2007,246(5):815-821.DOI:10.1097/SLA.0b013e31813e66b9.
[7] Castinetti F,Waguespack SG,Machens A,et al.Natural history,treatment,and long-term follow up of patients with multiple endocrine neoplasia type 2B:an international,multicentre,retrospective study[J].Lancet Diabetes Endocrinol,2019,7(3):213-220.DOI:10.1016/S2213-8587(18)30336-X.
[8] Li D,Chi Y,Chen X,et al.Anlotinib in locally advanced or metastatic medullary thyroid carcinoma:a randomized,double-blind phase ⅡB trial[J].Clin Cancer Res,2021,27(13):3567-3575.DOI:10.1158/1078-0432.CCR-20-2950.
[9] 杨华,吴红花,布楠,等.寂静性嗜铬细胞瘤临床特点分析[J].中华医学杂志,2018,98(34):2727-2731.DOI:10.3760/cma.j.issn.0376-2491.2018.34.010.
[10] 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.
[11] 刘瑶,付洁,符月,等.多发性内分泌腺瘤病2B型一例[J].中华口腔医学杂志,2015,50(10):590-592.DOI:10.3760/cma.j.issn.1002-0098.2015.10.004.
[12] 赵坚强,戚晓平,李嘉根,等.多发性内分泌腺瘤2B型一例并文献复习[J].中华全科医师杂志,2015,14(3):194-199.DOI:10.3760/cma.j.issn.1671-7368.2015.03.010.
[13] 董德鑫,李汉忠.多发性内分泌腺瘤病2B型合并类马方综合征一例报告并文献复习[J].中华泌尿外科杂志,2014,35(3):161-164.DOI:10.3760/cma.j.issn.1000-6702.2014.03.001.
[14] 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.DOI:10.3760/j.issn:0578-1426.2003.01.006.
[15] 谢燚,李汉忠.多发性内分泌腺瘤病2B型四例报告并文献复习[J].中华泌尿外科杂志,2014,35(7):481-485.DOI:10.3760/cma.j.issn.1000-6702.2014.07.001.
[16] 茅江峰,王志新,李梅,等.RET基因突变导致的多发性内分泌腺瘤病2B型患者的临床特点及诊治经验[J].中华医学杂志,2013,93(6):445-448.DOI:10.3760/cma.j.issn.0376-2491.2013.06.013.
[17] 黄培颖,陈宁,宋海曲,等.RET原癌基因突变致多发性内分泌腺瘤病2b型临床诊治[J].中国全科医学,2016,19(2):229-232.DOI:10.3969/j.issn.1007-9572.2016.02.022.
[18] Zhang L,Guo Y,Ye L,et al.Severe constipation as the first clinical manifestation in multiple endocrine neoplasia type 2B:a case report and literature review[J].BMC Pediatr,2020,20(1):318.DOI:10.1186/s12887-020-02224-4.
[19] 周瑜琳,赵咏桔,成昌友,等.五个多发性内分泌肿瘤2B家系的临床分析和RET原癌基因突变研究[J].中华内分泌代谢杂志,2006,22(6):549-553.DOI:10.3760/j.issn:1000-6699.2006.06.012.
[20] 张永侠,张彬,刘文胜,等.行RET原癌基因检测的多发性内分泌肿瘤2B型一例[J].中华耳鼻咽喉头颈外科杂志,2014,(5):422-424.DOI:10.3760/cma.j.issn.1673-0860.2014.05.019.
[21] Xu L,Shek KW,Wong KC,et al.Megacolon as the presenting feature of multiple endocrine neoplasia type 2B:a case report[J].Hong Kong Med J,2019,25(6):483-486.DOI:10.12809/hkmj197827.
[22] Qi XP,Lin GB,Chen B,et al.Multiple endocrine neoplasia type 2B associated mixed medullary and follicular thyroid carcinoma in a Chinese patient with RET M918T germline mutation[J].Endocr Metab Immune Disord Drug Targets,2021,21(3):554-560.DOI:10.2174/1871530320666200713092633.
[23] 金萍,胡文沐,杨幼波,等.RET基因p.M918T突变导致多发性内分泌肿瘤-Ⅱb型1例[J].中南大学学报(医学版),2020,45(10):1261-1265.DOI:10.11817/j.issn.1672-7347.2020.190140.
[24] 燕东亮,李甦,曹庆伟,等.2B型多发性内分泌肿瘤家族RET基因突变检测分析[J].中华泌尿外科杂志,2003,24(1):60.DOI:10.3760/j:issn:1000-6702.2003.01.037.
[25] Zhou Y,Zhao Y,Cui B,et al.RET proto-oncogene mutations are restricted to codons 634 and 918in mainland Chinese families with MEN2A and MEN2B[J].Clin Endocrinol(Oxf),2007,67(4):570-576.DOI:10.1111/j.1365-2265.2007.02927.x.
[26] 马晓森,王芬,崔云英,等.RET突变的嗜铬细胞瘤患者的临床及基因特征[J].基础医学与临床,2020,40(12):1651-1655.DOI:10.3969/j.issn.1001-6325.2020.12.009.
[27] 顾丽群,赵咏桔,赵红燕,等.一个RET原癌基因Met918Thr突变的多发性内分泌腺瘤病Ⅱb家系报道[J].上海医学,2004,27(8):592-593.DOI:10.3969/j.issn.0253-9934.2004.08.017.
[28] Wang J,Zhang B,Liu W,et al.Screening of RET gene mutations in Chinese patients with medullary thyroid carcinoma and their relatives[J].Fam Cancer,2016,15(1):99-104.DOI:10.1007/s10689-015-9828-6.
[29] 张枝桥,刘小伟,董方田.多发性内分泌腺瘤病2b型患者眼部特征分析[J].中华医学杂志,2012,92(2):119-121.DOI:10.3760/cma.j.issn.0376-2491.2012.02.012.
[30] 范治璐,鞠红卫,于洋,等.2型多发性内分泌肿瘤诊治(附2例)[J].中华内分泌外科杂志,2010,04(4):276-277.DOI:10.3760/cma.j.issn.1674-6090.2010.04.022.
[31] 燕东亮,许纯孝,张东青,等.多发性内分泌肿瘤2b型(附一例报告并文献复习)[J].中华泌尿外科杂志,2001,22(11):688-690.DOI:10.3760/j:issn:1000-6702.2001.11.015.
[32] 赵铁耘,李秀钧,沈宏.多发性内分泌腺瘤2B型1例报告[J].华西医科大学学报,2000,31(1):128.DOI:10.3969/j.issn.1672-173X.2000.01.045.
[33] 王立明,赵永福,汤洪波,等.多发性内分泌肿瘤Ⅱb型--附1例报告并文献复习[J].中国现代普通外科进展,2004,7(1):55-58.DOI:10.3969/j.issn.1009-9905.2004.01.017.
[34] 吴岚,肖璇,周永梅,等.多发性内分泌腺瘤病2B型特征性口腔黏膜表现家系[J].临床口腔医学杂志,2016,32(7):410-412.DOI:10.3969/j.issn.1003-1634.2016.07.008.
[35] 陈迪,李莹.多发性内分泌腺瘤病2B型特征性眼部表现一例[J].眼科,2014,23(1):46,56.DOI:10.13281/j.cnki.issn.1004-4469.2014.01.017.

备注/Memo

备注/Memo:
通信作者:马瑜瑾,Email:mayujin126@126.com
基金项目:河南省科技发展计划项目(212102310780); 河南省医学科技攻关计划联合共建项目(LHGJ20210598)
更新日期/Last Update: 2022-09-10