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肾细胞癌相关遗传性综合征

陈健 纪志刚

陈健, 纪志刚. 肾细胞癌相关遗传性综合征[J]. 协和医学杂志, 2016, 7(2): 136-140. doi: 10.3969/j.issn.1674-9081.2016.02.012
引用本文: 陈健, 纪志刚. 肾细胞癌相关遗传性综合征[J]. 协和医学杂志, 2016, 7(2): 136-140. doi: 10.3969/j.issn.1674-9081.2016.02.012

肾细胞癌相关遗传性综合征

doi: 10.3969/j.issn.1674-9081.2016.02.012
详细信息
    通讯作者:

    纪志刚 电话:010-69152520, E-mail:jzg1129@medmail.com.cn

  • 中图分类号: R737.11

  • [1] Zbar B, Glenn G, Merino M, et al. Familial renal carcinoma: clinical evaluation, clinical subtypes and risk of renal carcinoma development [J]. J Urol, 2007, 177:461-465. http://www.sciencedirect.com/science/article/pii/s0022534706025043
    [2] Hwang JJ, Uchio EM, Linehan WM, et al. Hereditary kidney cancer [J]. Urol Clin North Am, 2003, 30:831-842. doi:  10.1016/S0094-0143(03)00054-5
    [3] Courtney KD, Choueiri TK. Optimizing recent advances in metastatic renal cell carcinoma[J]. Curr Oncol Rep, 2009, 11:218-226. doi:  10.1007/s11912-009-0031-5
    [4] Dharmawardana PG, Giubellino A, Bottaro DP. Hereditary papillary renal carcinoma type Ⅰ [J]. Curr Mol Med, 2004, 4:855-868. doi:  10.2174/1566524043359674
    [5] Schmidt LS, Nickerson ML, Angeloni D, et al. Early onset hereditary papillary renal carcinoma: germline missense mutations in the tyrosine kinase domain of the met proto-oncogene [J]. J Urol, 2004, 172:1256-1261. doi:  10.1097/01.ju.0000139583.63354.e0
    [6] Herts BR, Coll DM, Novick AC, et al. Enhancement characteristics of papillary renal neoplasms revealed on triphasic helical CT of the kidneys [J]. AJR Am J Roentgenol, 2002, 178:367-372. doi:  10.2214/ajr.178.2.1780367
    [7] Herring JC, Enquist EG, Chernoff A, et al. Parenchymal sparing surgery in patients with hereditary renal cell carcinoma: 10-year experience [J]. J Urol, 2001, 165:777-781. doi:  10.1016/S0022-5347(05)66524-X
    [8] Srinivasan R, Choueiri T, Vaishampayan U, et al. A phase Ⅱ study of the dual MET/VEGFR2 inhibitor XL880 in patients (pts) with papillary renal carcinoma (PRC) (abstract) [J]. J Clin Oncol, 2008, 26s:5103-5109. http://europepmc.org/abstract/MED/27947980
    [9] Alam NA, Bevan S, Churchman M, et al. Localization of a gene (MCUL1) for multiple cutaneous leiomyomata and uterine fibroids to chromosome 1q42.3-q43 [J]. Am J Hum Genet, 2001, 68:1264-1269. doi:  10.1086/320124
    [10] Pollard P, Wortham N, Barclay E, et al. Evidence of increased microvessel density and activation of the hypoxia pathway in tumours from the hereditary leiomyomatosis and renal cell cancer syndrome [J]. J Pathol, 2005, 205:41-49. doi:  10.1002/path.1686
    [11] Ooi A, Wong JC, Petillo D, et al. An antioxidant response phenotype shared between hereditary and sporadic type 2 papillary renal cell carcinoma [J]. Cancer Cell, 2011, 20:511-523. doi:  10.1016/j.ccr.2011.08.024
    [12] Sudarshan S, Sourbier C, Kong HS, et al. Fumaratehydratase deficiency in renal cancer induces glycolytic addiction and hypoxia-inducible transcription factor 1alpha stabilization by glucose-dependent generation of reactive oxygen species [J]. Mol Cell Biol, 2009, 29:4080-4090. doi:  10.1128/MCB.00483-09
    [13] Grubb RL 3rd, Franks ME, Toro J, et al. Hereditary leiomyomatosis and renal cell cancer: a syndrome associated with an aggressive form of inherited renal cancer [J]. J Urol, 2007, 177:2079-2080. doi:  10.1016/j.juro.2007.01.241
    [14] Sudarshan S, Pinto PA, Neckers L, et al. Mechanisms of disease: hereditary leiomyomatosis and renal cell cancer—a distinct form of hereditary kidney cancer [J]. Nat Clin Pract Urol, 2007, 4:104-110. doi:  10.1038/ncpuro0711
    [15] Menko FH, van Steensel MA, Giraud S, et al. Birt-Hogg-Dubé syndrome: diagnosis and management [J]. Lancet Oncol, 2009, 10:1199-1206. doi:  10.1016/S1470-2045(09)70188-3
    [16] Schmidt LS, Nickerson ML, Warren MB, et al. Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome [J]. Am J Hum Genet, 2005, 76:1023-1033. doi:  10.1086/430842
    [17] Vocke CD, Yang Y, Pavlovich CP, et al. High frequency of somatic frameshift BHD gene mutations in Birt-Hogg-Dubé-associated renal tumors [J]. J Natl Cancer Inst, 2005, 97:931-935. doi:  10.1093/jnci/dji154
    [18] Baba M, Hong SB, Sharma N, et al. Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling [J]. Proc Natl Acad Sci USA, 2006, 103:15552-15557. doi:  10.1073/pnas.0603781103
    [19] Pavlovich CP, Walther MM, Eyler RA, et al. Renal tumors in the Birt-Hogg-Dubé syndrome [J]. Am J Surg Pathol, 2002, 26:1542-1552. doi:  10.1097/00000478-200212000-00002
    [20] Houweling AC, Gijezen LM, Jonker MA, et al. Renal cancer and pneumothorax risk in Birt-Hogg-Dubé syndrome; an analy-sis of 115 FLCN mutation carriers from 35 BHD families [J]. Br J Cancer, 2011, 105:1912-1919. doi:  10.1038/bjc.2011.463
    [21] Pavlovich CP, Grubb RL 3rd, Hurley K, et al. Evaluation and management of renal tumors in the Birt-Hogg-Dubé syndrome [J]. J Urol, 2005, 173:1482-1486. doi:  10.1097/01.ju.0000154629.45832.30
    [22] Barrisford GW, Singer EA, Rosner IL, et al. Familial renal cancer: molecular genetics and surgical management [J]. Int J Surg Oncol, 2011, 2011:658767. http://www.tandfonline.com/servlet/linkout?suffix=CIT0003&dbid=8&doi=10.1080%2F1354750X.2016.1269132&key=22312516
    [23] Baba M, Furihata M, Hong SB, et al. Kidney-targeted Birt-Hogg-Dube gene inactivation in a mouse model: Erk1/2 and Akt-mTOR activation, cell hyperproliferation, and polycystic kidneys [J]. J Natl Cancer Inst, 2008, 100:140-154. doi:  10.1093/jnci/djm288
    [24] Neumann HP, Bausch B, McWhinney SR, et al. Germ-line mutations in nonsyndromic pheochromocytoma [J]. N Engl J Med, 2002, 346:1459-1466. doi:  10.1056/NEJMoa020152
    [25] Benn DE, Gimenez-Roqueplo AP, Reilly JR, et al. Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes [J]. J Clin Endocrinol Metab, 2006, 91:827-836. doi:  10.1210/jc.2005-1862
    [26] Young WF Jr, Abboud AL. Editorial: paraganglioma—all in the family [J]. J Clin Endocrinol Metab, 2006, 91:790-792. doi:  10.1210/jc.2005-2758
    [27] Ricketts CJ, Shuch B, Vocke CD, et al. Succinate dehydrogenase kidney cancer: an aggressive example of the Warburg effect in cancer [J]. J Urol, 2012, 188:2063-2071. doi:  10.1016/j.juro.2012.08.030
    [28] Ricketts C, Woodward ER, Killick P, et al. Germline SDHB mutations and familial renal cell carcinoma [J]. J Natl Can-cer Inst, 2008, 100:1260-1262. doi:  10.1093/jnci/djn254
    [29] Dabora SL, Jozwiak S, Franz DN, et al. Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs [J]. Am J Hum Genet, 2001, 68:64-80. doi:  10.1086/316951
    [30] El-Hashemite N, Zhang H, Henske EP, et al. Mutation in TSC2 and activation of mammalian target of rapamycinsignalling pathway in renal angiomyolipoma [J]. Lancet, 2003, 361:1348-1349. doi:  10.1016/S0140-6736(03)13044-9
    [31] Rakowski SK, Winterkorn EB, Paul E, et al. Renal manifestations of tuberous sclerosis complex: Incidence, prognosis, and predictive factors [J]. Kidney Int, 2006, 70:1777-1782. doi:  10.1038/sj.ki.5001853
    [32] Selle B, Furtwängler R, Graf N, et al. Population-based study of renal cell carcinoma in children in Germany, 1980-2005: more frequently localized tumors and underlying disorders compared with adult counterparts [J]. Cancer, 2006, 107:2906-2614. doi:  10.1002/cncr.22346
    [33] Kubo M, Iwashita K, Oyachi N, et al. Two different types of infantile renal cell carcinomas associated with tuberous sclerosis [J]. J Pediatr Surg, 2011, 46:E37-E41.
    [34] Paul E, Thiele EA, Shailam R, et al. Case records of the Massachusetts General Hospital. Case 26-2011. A 7-year-old boy with a complex cyst in the kidney [J]. N Engl J Med, 2011, 365:743-751. doi:  10.1056/NEJMcpc1103557
    [35] Lonser RR, Glenn GM, Walther M, et al. von Hippel-Lindau disease [J]. Lancet, 2003, 361:2059-2067. doi:  10.1016/S0140-6736(03)13643-4
    [36] Barry RE, Krek W. The von Hippel-Lindautumour suppressor: a multi-faceted inhibitor of tumourigenesis [J]. Trends Mol Med, 2004, 10:466-472. doi:  10.1016/j.molmed.2004.07.008
    [37] Lonser RR, Glenn GM, Walther M, et al. von Hippel-Lindau disease [J]. Lancet, 2003, 361:2059-2067. doi:  10.1016/S0140-6736(03)13643-4
    [38] Jonasch E, McCutcheon IE, Waguespack SG, et al. Pilot trial of sunitinib therapy in patients with von Hippel-Lindau disease [J]. Ann Oncol, 2011, 22:2661-2666. doi:  10.1093/annonc/mdr011
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出版历程
  • 收稿日期:  2014-04-30
  • 刊出日期:  2016-03-30

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