Molecular genetics of hereditary renal cancer: New genes and diagnostic and therapeutic opportunities

Expert Review of Anticancer Therapy

Volumn 8, Issue 6, 2008, Pages 895-905

  Hansel, Donna E ^a   Rini, Brian I ^b  

^a LERNER RESEARCH INSTITUTE   (United States)

^b TAUSSIG CANCER INSTITUTE   (United States)

Author keywords

Genetics; Inherited; Intracellular signaling; Kidney cancer; Molecular diagnostics; Neoplasm; Screening; Syndrome; Transcription

Indexed keywords

BEVACIZUMAB; CHEMOKINE RECEPTOR CXCR4; CXCL1 CHEMOKINE; ELONGIN B; ELONGIN C; ERYTHROPOIETIN; FUMARATE HYDRATASE; GROWTH FACTOR RECEPTOR BOUND PROTEIN 2; HAMARTIN; HYPOXIA INDUCIBLE FACTOR 1ALPHA; HYPOXIA INDUCIBLE FACTOR 2ALPHA; INTERFERON; MAMMALIAN TARGET OF RAPAMYCIN; MITOGEN ACTIVATED PROTEIN KINASE 1; MITOGEN ACTIVATED PROTEIN KINASE 3; PLACEBO; PLATELET DERIVED GROWTH FACTOR; PROTEIN KINASE B; RAPAMYCIN; RAS PROTEIN; SCATTER FACTOR RECEPTOR; SORAFENIB; SOS PROTEIN; SUNITINIB; TEMSIROLIMUS; TRANSFORMING GROWTH FACTOR ALPHA; TUBERIN; UNINDEXED DRUG; VASCULOTROPIN; VON HIPPEL LINDAU PROTEIN; ANTINEOPLASTIC AGENT; FLCN PROTEIN, HUMAN; ONCOPROTEIN; TUMOR SUPPRESSOR PROTEIN;

ANTINEOPLASTIC ACTIVITY; AUTOSOMAL DOMINANT INHERITANCE; BIRT HOGG DUBE SYNDROME; CANCER RISK; CARCINOGENESIS; CHROMOSOME TRANSLOCATION 3; CLEAR CELL CARCINOMA; CLINICAL FEATURE; CLINICAL TRIAL; COMBINATION CHEMOTHERAPY; DRUG TARGETING; FAMILIAL CANCER; GENE DELETION; GENE EXPRESSION; GENE MUTATION; HUMAN; HYPERPARATHYROIDISM; JAW TUMOR; KIDNEY CANCER; KIDNEY CARCINOMA; MOLECULAR GENETICS; MONOTHERAPY; NONHUMAN; ONSET AGE; PARTIAL NEPHRECTOMY; PENETRANCE; REVIEW; SIGNAL TRANSDUCTION; TUBEROUS SCLEROSIS; TUMOR VASCULARIZATION; VON HIPPEL LINDAU DISEASE; AGE; DRUG DELIVERY SYSTEM; GENETIC PREDISPOSITION; GENETICS; KIDNEY TUMOR; PATHOPHYSIOLOGY; SYNDROME;

AGE FACTORS; ANTINEOPLASTIC AGENTS; CARCINOMA, RENAL CELL; DRUG DELIVERY SYSTEMS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; KIDNEY NEOPLASMS; PROTO-ONCOGENE PROTEINS; SIGNAL TRANSDUCTION; SYNDROME; TUMOR SUPPRESSOR PROTEINS; VON HIPPEL-LINDAU DISEASE;

EID: 47249134313     PISSN: 14737140     EISSN: 17448328     Source Type: Journal    
DOI: 10.1586/14737140.8.6.895     Document Type: Review

References (96)

1. Knudson AG Jr. Mutation and cancer: statistical study of retinoblastoma. Proc. Natl Acad. Sci. USA 68, 820-823 (1971).
2. Rathmell WK, Chen S. VHL inactivation in renal cell carcinoma: implications for diagnosis, prognosis and treatment. Expert Rev. Anticancer Ther. 8, 63-73 (ZO08).
3. Latif F, Tory K, Gnarra. J et al. Identification of the Von Hippel-Lindau disease tumor suppressor gene. Sciene 260, 1317-1320 (1993).
4. Sezinger BR, Rouleau GA, Ozelius LJ et al. Von Hippel-Lindau disease maps to the region of chromosome 3 associated with renal cell carcinoma. Nature 332, 268-269 (1988).
5. Gnarra JR, Lerman MI, Zbar B et al. Genetics of renal-cell carcinoma and evidence for a critical role for von Hippel-Lindau in renal tumorigenesis. Semin. Oncol. 22, 3-8 (1995).
6. Maxwell PH, Wiesener MS, Chang GW et al. The tumour suppressor protein VHL targets hypoxia-inducible factors for oxygen-dependent proteolysis. Nature 399, 271-275 (1999).
7. 2 sensing. Science 292, 464-468 (2001).
8. 2-regulated prolyl hydroxylation. Science 292, 468-472 (2001).
9. Aravind L, Koonin EV. The DNA-repair protein AlkB, EGL-9, and leprecan define new families of 2-oxoglutarate- and iron-dependent dioxygenases. Genome Biol. 2 (3), Research0007 (2001).
10. Bruick RK, McKnight SL. A conserved family of prolyl-4-hydroxylases that modify HIF. Science 294, 1337-1340 (2001).
11. Ohh M, Park CW, Ivan M et al. Ubiquitination of hypoxia-inducible factor requires direct binding to the β-domain of the von Hippel Lindau protein. Nat. Cell Biol. 2, 423-427 (2000).
12. Kaelin WG Jr. Proline hydroxylation and gene expression. Annu. Rev. Biochem. 74, 115-128 (2005).
13. Firth JD, Ebert BL, Ratcliffe PJ. Hypoxic regulation of lactate dehydrogenase A. Interaction between hypoxia-inducible factor I and cAMP response elements. J. Biol. Chem. 270, 21021-21027 (1995).
14. Igarashi H, Esumi M, Ishida H et al. Vascular endothelial growth factor overexpression is correlated with von Hippel-Lindau tumor suppressor gene inactivation in patients with sporadic renal cell carcinoma. Cancer 95, 47-53 (2002).
15. Hu CJ, Wa LY. Chodosh LA et al. Differential roles of hypoxia-inducible factor 1α (HIF-1α) and HIF-2α in hypoxic gerre regulation. Mol. Cell. Biol. 23, 9361-9374 (2003).
16. Kowanetz M, Ferrara N. Vascular endothelial growth factor signaling pathways: therapeutic perspective. Clin. Cancer Res. 12, 5018-5022 (2006).
17. Jubb AM, Oates AJ, Holden S et al. Predicting benefit from anti-angiogenic agents in malignancy. Nat. Rev. Cancer 6, 626-635 (2006).
18. Bratslavsky G, Sudarshan S, Neckers L et al. Pseudohypoxic pathways in renal cell carcinoma. Clin. Cancer Res. 13, 4667-4671 (2007).
19. Staller P, Sulitkova J, Lisznwan J et al. Chemokine receptor CXCR4 downregulated by von Hippel-Lindau tumour suppressor pVHL. Nature 425, 307-311 (2003).
20. Wykoff CC, Pugh CW, Harris AL et al. The HIF pathway: implications for patterns of gene expression in cancer. Novartis Found. Symp. 240, 212-225 (2001).
21. Motzer RJ, Hutson TE, Tomczak P et al. Sunitinib versus interferon α in metastatic renal-cell carcinoma. N. Engl. J. Med. 356, 115-124 (2007).
22. Escudier B, Eisen T, Stadler WM et al. Sorafenib in advanced clear-cell renal-cell carcinoma. N. Engl. J. Med. 356, 125-134 (2007).
23. Escudier B, Pluzanska A, Koralewski P et al. Bevacizumab plus interferon α-2a for treatment of metastatic renal cell carcinoma: a randomised, double-blind Phase III trial. Lancet 370, 2103-2111 (2007).
24. Rini BI HS, Rosenberg JE, Stadler WM et al. CALGB 90206: a Phase III trial of bevacizumab plus interferon-α versus interferon-α monotherapy in metastatic renal cell carcinoma. Presented at: Genitourinary Cancers Symposium - A Multidisciplinary Approach. San Francisco, CA, USA February 14-16 2008 (Abstract 350).
25. Launonen V, Vierimaa O, Kiuru M et al. Inherited susceptibility to uterine leiomyomas and renal cell cancer. Proc. Natl. Acad. Sci. USA 98, 3387-3392 (2001).
26. Kiuru M, Launonen V, Hietala M et al. Familial cutaneous leiomyomatosis is a two-hit condition associated with renal cell cancer of characteristic histopathology. Am. J. Pathol. 159, 825-829 (2001).
27. Toro JR, Nickerson ML, Wei MH et al. Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America. Am. J. Hum. Genet. 73, 95-106 (2003).
28. Merino MJ, Torres-Cabala C, Pinto P et al. The morphologic spectrum of kidney tumors in hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome. Am. J. Surg. Pathol. 31, 1578-1585 (2007).
29. Grubb RL III, Franks ME, Toro J et al. Hereditary leiomyomatosis and renal cell cancer: a syndrome associated with an aggressive form of inherited renal cancer. J. Urol. 177, 2074-2080 (2007).
30. Sudarshan S, Pinto PA, Neckers L et al. Mechanisms of disease: hereditary leiomyomatosis and renal cell cancer - a distinct form of hereditary kidney cancer. Nat. Clin. Pract. Urol. 4, 104-110 (2007).
31. Tomlinson IF, Alam NA, Rowan AJ et al. Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. Nat. Genet. 30, 406-410 (2002).
32. Isaacs JS, Jung YJ, Mole DR et al. HIF overexpression correlates with biallelic loss of fumarate hydratase in renal cancer: novel role of fumarate in regulation of HIF stability. Cancer Cell 8, 143-153 (2005).
33. 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. Pathol. 205, 41-49 (2005).
34. Gimenez-Roqueplo AP, Favier J, Rustin P et al. The R22X mutation of the SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II in the mitochondrial respiratory chain and activates the hypoxia pathway. Am. J. Hum. Genet. 69, 1186-1197 (2001).
35. Vanharanta S, Buchta M, McWhinney SR et al. Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma. Am. J. Hum. Genet. 74, 153-159 (2004).
36. Wei MH, Toure O, Glenn GM et al. Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer. J. Med. Genet. 43, 18-27 (2006).
37. Nickerson ML, Warren MB, Toro JR et al. Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dube syndrome. Cancer Cell 2, 157-164 (2002).
38. da Silva NF, Gentle D, Hesson LB et al. Analysis of the Birt-Hogg-Dube (BHD) tumour suppressor gene in sporadic renal cell carcinoma and colorectal cancer. J. Med. Genet. 40, 820-824 (2003).
39. Khoo SK, Kahnoski K, Sugimura J et al. Inactivation of BHD in sporadic renal tumors. Cancer Res. 63, 4583-4587 (2003).
40. Hornstein OP, Knickenberg M. Perifollicular fibromatosis cutis with polyps of the colon - a cutaneo-intestinal syndrome sui generis. Arch. Dermatol. Res. 253, 161-175 (1975).
41. Birt AR, Hogg GR, Dube WJ. Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons. Arch. Dermatol. 113, 1674-1677 (1977).
42. Adley BP, Smith ND, Nayar R et al. Birt-Hogg-Dube syndrome: clinicopathologic findings and genetic alterations. Arch. Pathol. Lab. Med. 130, 1865-1870 (2006).
43. Zbar B, Alvord WG, Glenn G et al. Risk of renal and colonic neoplasms and spontaneous pneumothorax in the Birt-Hogg-Dube syndrome. Cancer Epidemiol. Biomarkers Prev. 11, 393-400 (2002).
44. Khoo SK, Giraud S, Kahnoski K et al. Clinical and genetic studies of Birt-Hogg-Dube syndrome. J. Med Genet. 39, 906-912 (2002).
45. Schmidt LS, Nickerson ML, Warren MB et al. Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hoge-Dube syndrome. Am. J. Hum. Genet. 76, 023-1033 (2005).
46. Warren MB, Torres-Cabala CA, Turner M L et al. Expression of Birt-Hogg-Dube gene mRNA in normal and neoplastic human tissues. Mod, Pathol. 17, 998-1011 (2004).
47. Wang D, Yao YL, Messing EM et al. Birt-Hogg-Dube tumor suppressor expression in sporadic renal cell carcinomas. J. Urol. 173, A625 (2005) (Abstract).
48. Baba M, Hong S-B, 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. PNAS 103, 15552-15557 (2006).
49. Baba M, Furihata M, Hong S-B et al. Kidney-targeted Birt-I-logg-Dube gene inactivation in a mouse model: Erk1/2 and Akt-mTOR activation, cell hyperproliferation, and polycystic kidneys. JNCI 100, 140 154 (2008).
50. Mai KT, Dhamanaskar R Belanger E et al. Hybrid chromophobe renal cell neoplasm. Pathol. Res. Pract. 201, 385-389 (2005).
51. Pavlovich CP, Walther MM, Eyler RA et al. Renal tumors in the Birt-Hogg-Dube syndrome. Am. J. Surg. Pathol. 26, 1542-1552 (2002).
52. Tickoo SY, Reuter VE, Amin MB et al. Renal oncocytosis: a morphologic study of fourteen cases. Am. J. Surg. Pathol. 23, 1094-1101 (1999).
53. Pavlovich CP, Grubb RL III, Hurley K et al. Evaluation and management of renal tumors in the Birt-Hogg-Dube syndrome. J. Urol. 173, 1482-1486 (2005).
54. Jeffers M, Schmidt L, Nakaigawa. N et al. Activating mutations for the met tyrosine kinase receptor in human cancer. Proc. Natl Acad. Sci. USA 94, 11445-11450 (1997).
55. Schmidt L, Duh FM, Chen F et al. Germline and somatic mutations in the tyrosine kinase domain of the MET proto-oncogene in papillary renal carcinomas. Nat. Genet. 16, 68-73 (1997).
56. Schmidt L, Junket K, Weirich G et al. Two North American families with hereditary papillary renal carcinoma and identical novel mutations in die MET proto-oncogene. Cancer Res. 58, 1719-1722 (1998).
57. Schmidt L, Junker K, Nakaigawa N et al. Novel mutations of the MET proto-oncogene in papillary renal carcinomas. Oncogene 18, 2343-2350 (1999).
58. Fischer J, Palmedo G, von Knobloch R et al. Duplication and overexpression of the mutant allele of the MET proto-oncogene in multiple hereditary papillary renal cell tumours. Oncogene 17, 733-739 (1998).
59. Zhuang Z, Park WS, Pack S et al. Trisomy 7-harbouring non-random duplication of the mutant MEt allele in hereditary papillary renal carcinomas. Nat. Genet. 20, 66-69, (1998).
60. Prat E, Bernues M, Del Rey J et al. Common pattern og unusual chromosome abnormalities in hereditary Papillary renal carcinoma. Cancer Genet. Cytogenet. 164, 142-147 (2006).
61. Zbar B, Glenn G, Merino M et al. Familial renal carcinoma: clinical evaluation, clinical subtypes and risk of renal carcinoma development. J. Urol. 177, 461-465 (2007).
62. Delahunt B, Eble JN. Papillary renal cell carcinoma: a clinicopathologic and immunohistochemical study of 105 tumors. Mod. Pathol. 10, 537-544 (1997).
63. Berthou S, Aebersold DM, Schmidt LS et al. The Met kinase inhibitor SU11274 exhibits a selective inhibition pattern toward different receptor mutated variants. Oncogene 23, 5387-5393 (2004).
64. Bellon SF, Kaplan-Lefko F, Yang Y et al. c-Met inhibitors with novel binding mode show activity against several hereditary papillary renal cell carcinoma-related mutations. J. Biol. Chem. 283, 2675-2683 (2008).
65. Kozlowski P, Roberts P, Dabora S et al. Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations. Hum. Genet. 121, 389-400 (2007).
66. Hay N. The Akt-mTOR tango and its relevance to cancer. Cancer Cell 8, 179-183 (2005).
67. Hay N, Sonenberg N. Upstream and downstream of mTOR. Genes Dev. 18, 1926-1945 (2004).
68. Manning BD, Cantley LC. Rheb fills a GAP between TSC and TOR. Trends Biochem. Sci. 28, 573-576 (2003).
69. Brugarolas JB, Vazquez F, ReddyA et al. TSC2 regulates VEGF through mTOR-dependent and independent pathways. Cancer Cell 4, 147-158 (2003).
70. Brugarolas J, Kaelin WG Jr. Dysregulation of HIF and VEGF is a unifying feature of the Familial hamartoma syndromes. Cancer Cell 6, 7-10 (2004).
71. Liu MY, Poellinger L, Walker CL. Up-regulation of hypoxia-inducible factor 2α in renal cell carcinoma associated with loss of Tsc-2 tumor suppressor gene. Cancer Res 63, 2675-2680 (2003).
72. Crino PB, Nathanson KL, Henske EP. The tuberous sclerosis complex. N. Engl. J. Med. 355, 1345-1356 (2006).
73. Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell 75, 1305-1315 (1993).
74. van Slegtenhorst M, de Hoogt R, Hermans C et al. Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science 277, 805-808 (1997).
75. Wiesener MS, Munchenhagen PM, Berger I et al. Constitutive activation of hypoxia-inducible genes related to overexpression of hypoxia-inducible factor-1 alpha in clear cell renal carcinomas. Cancer Res 61, 5215-5222 (2001).
76. Walker C. Molecular genetics of renal carcinogenesis. Toxicol. Pathol. 26,113-120 (1998).
77. O'Callaghan FJ, Noakes MJ, Martyn CN et al. An epidemiological study of renal pathology in tuberous sclerosis complex. BJU Int. 94, 853-857 (2004).
78. Washecka R, Hanna M. Malignant renal tumors in tuberous sclerosis. Urology 37, 340-343 (1991).
79. Ewalt DH, Diamond N, Rees C et al. Long-term outcome of transcatheter embolization of renal angiomyolipomas due to tuberous sclerosis complex. J. Urol. 174, 1764-1766 (2005).
80. Kothary N, Soulen MC, Clark TW et al. Renal angiomyolipoma: long-term results after arterial embolization. J. Vast. Interv. Radiol. 16, 45-50 (2005).
81. Paul E,Thiele E. Efficacy of sirolimus in treating tuberous sclerosis and lymphangioleiomyomatosis. N. Engl. J. Med. 358, 190-192 (2008).
82. Bissler JJ, McCormack FX, Young LR et al. Sirolimus for angiomyolipoma in tuberous sclerosis complex or lymphangioleiomyomatosis. N. Engl. J. Med. 358, 140-151 (2008).
83. Atkins M, Hidalgo M, Stadler WM et al. Randomized Phase II study of multiple dose levels of CCI-779, a novel mammalian target of rapamycin kinase inhibitor in patients with advanced refractory renal cell carcinoma. J. Clin. Oncol. 22, 909-918 (2004).
84. Hudes G, Carducci M, Tomczak P et al. Temsirolimus, interferon alpha, or both for advanced renal-cell carcinoma. N. Engl. J. Med. 356, 2271-2281 (2007).
85. Jackson CE, Norum RA, Boyd SB et al. Hereditary hyperparathyroidism and multiple ossifying jaw fibromas: a clinically and genetically distinct syndrome. Surgery 108, 1006-1013 (1990).
86. Teh BT, Farnebo F, Kristoffersso n U et al. Autosomal dominant primary hyperparathyroidism and jaw tumor syndrome associated with renal hamartomas and cystic kidney disease: linkage to 1q21-q32 and loss of the wild type allele in renal hamartomas. J. Clin. Enadocrinol. Metab. 81, 4204-4211 (1996).
87. Simonds WF, James-Newton LA. Agarwal SK et al. Familial isolated hyperparathyroidism: clinical and genetic characteristics of 36 kindreds. Medicine (Baltimore) 81, 1-26 (2002).
88. Kakinuma A, Morimoto I, Nakano Y et al. Familial primary hyperparathyroidism complicated with Wilms' tumor. Intern. Med. 33, 123-126 (1994).
89. Chen JD, Morrison C, Zhang C et al. Hyperparathyroidism-jaw tumour syndrome. J. Intern. Med. 253, 634-642 (2003).
90. Szabo J, Heath B, Hill VM et al. Hereditary hyperparathyroidism-jaw tumor syndrome: the endocrine tumor gene HRPT2 maps to chromosome 1q21-q31. Am. J. Hum. Genet. 56, 944-950 (1995).
91. Yart A, Gstaiger M, Wirbelauer C et al. The HRPT2 tumor suppressor gene product parafibromin associates with human PAF1 and RNA polymerase II. Mol. Cell Biol. 25, 5052-5060 (2005).
92. Lin L, Czapiga M, Nini L et al. Nuclear localization of the parafibromin tomor suppressor protein implicated in the hyperparathyroidism-jaw tumor syndrome enhances its proapoptotic function. Mol. Cancer Res 5, 183-193 (2007).
93. Howell VM, Cardinal JW, Richardson AL et al. Rapid mutation screening for HRPT2 and MEN1 mutations associated with Familial and sporadic primary hyperparathyroidism. J. Mot Diagn. 8, 559-566 (2006).
94. Cohen AJ, Li FP, Berg S et al. Hereditary renal-cell carcinoma associated with a chromosomal translocation. N. Engl. J. Med. 301, 592-595 (1979).
95. Bonne AC, Bodmer D, Schoenmakers EF et al. Chromosome 3 translocations; and familial renal cell cancer. Curr. Mol. Med. 4, 849-854 (2004).
96. Bodmer D, Janssen I, Jonkers Y et al. Molecular cytogenetic analysis of clustered sporadic and Familial renal cell carcinoma-associated 3q13 approximately q22 breakpoints. Cancer Genet. Cytogenet. 136, 95-100 (2002).