|
[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 |
作者投稿
专家审稿
编辑办公
邮件订阅
RSS
点击查看大图
下载:
