Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer

Journal of Medical Genetics

Volumn 43, Issue 1, 2006, Pages 18-27

  Wei, M H ^a   Toure, O ^a   Glenn, G M ^a   Pithukpakorn, M ^a   Neckers, L ^a   Stolle, C ^b   Choyke, P ^a   Grubb, R ^a   Middelton, L ^a   Turner, M L ^a   Walther, M M ^a   Merino, M J ^a   Zbar, B ^c   Linehan, W M ^a   Toro, Jorge R ^a  

^a NATIONAL CANCER INSTITUTE   (United States)

^b CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^c NATIONAL CANCER INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

FUMARATE HYDRATASE;

AFRICAN AMERICAN; ARTICLE; CLINICAL FEATURE; FEMALE; FRAMESHIFT MUTATION; GENE INSERTION; GENE MUTATION; GENETIC PREDISPOSITION; GENOTYPE; HETEROZYGOTE; HUMAN; HUMAN TISSUE; KIDNEY CANCER; LEIOMYOMATOSIS; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MUSCLE TUMOR; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; SKIN TUMOR; UTERUS TUMOR;

EID: 30744457565     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (31)

1. Launonen V, Vierimaa O, Kiuru M, Isola J, Roth S, Pukkala E, Sistonen P, Herva R, Aaltonen LA. Inherited susceptibility to uterine leiomyomas and renal cell cancer. Proc Natl Acad Sci U S A 2001;98:3387-92.
2. Tomlinson IP, Alam NA, Rowan AJ, Barclay E, Jaeger EE, Kelsell D, Leigh I, Gorman P, Lamlum H, Rahman S, Roylance RR, Olpin S, Bevan S, Barker K, Hearle N, Houlston RS, Kiuru M, Lehtonen R, Karhu A, Vilkki S, Laiho P, Eklund C, Vierimaa O, Aittomaki K, Hietala M, Sistonen P, Paetau A, Salovaara R, Herva R, Launonen V, Aaltonen LA; Multiple Leiomyoma Consortium. Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. Nat Genet 2002;30:406-10.
3. Toro JR, Nickerson ML, Wei MH, Warren MB, Glenn GM, Turner ML, Stewart L, Duray P, Tourre O, Sharma N, Choyke P, Stratton P, Merino M, Walther MM, Linehan WM, Schmidt LS, Zbar B. Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America. Am J Hum Genet 2003;73:95-106.
4. Gellera C, Uziel G, Rimoldi M, Zeviani M, Laverda A, Carrara F, DiDonato S. Fumarase deficiency is an autosomal recessive encephalopathy affecting both the mitochondrial and the cytosolic enzymes. Neurology 1990;40:495-9.
5. Bourgeron T, Chretien D, Poggi-Bach J, Doonan S, Rabier D, Letouze P, Munnich A, Rotig A, Landrieu P, Rustin P. Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency. J Clin Invest 1994;93:2514-18.
6. Coughlin EM, Christensen E, Kunz PL, Krishnamoorthy KS, Walker V, Dennis NR, Chalmers RA, Elpeleg ON, Whelan D, Pollitt RJ, Ramesh V, Mandell R, Shih VE. Molecular analysis and prenatal diagnosis of human fumarase deficiency. Mol Genet Metab 1998;63:254-62.
7. Hatch MD. A simple spectrophotometric assay for fumarate hydratase in crude tissue extracts. Anal Biochem 1978;85:271-5.
8. Alam NA, Rowan AJ, Wortham NC, Pollard PJ, Mitchell M, Tyrer JP, Barclay E, et al. Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency. Hum Mol Genet 2003;12:1241-52.
9. Kiuru M, Launonen V, Hietala M, Aittomaki K, Vierimaa O, Salovaara R, Arola J, Pukkala E, Sistonen P, Herva R, Aaltonen LA. Familial cutaneous leiomyomatosis is a two-hit condition associated with renal cell cancer of characteristic histopathology. Am J Pathol 2001;159:825-9.
10. Alam NA, Bevan S, Churchman M, Barclay E, Barker K, Jaeger EE, Nelson HM, Healy E, Pembroke AC, Friedmann PS, Dalziel K, Calonje E, Anderson J, August PJ, Davies MG, Felix R, Munro CS, Murdoch M, Rendall J, Kennedy S, Leigh IM, Kelsell DP, Tomlinson IP, Houlston RS. Localization of a gene (MCUL1) for multiple cutaneous leiomyomata and uterine fibroids to chromosome 1q42.3-q43. Am J Hum Genet 2001;68:1264-9.
11. Choyke PL, Walther MM, Glenn GM, Wagner JR, Venzon DJ, Lubensky IA, Zbar B, Linehan WM. Imaging features of hereditary papillary renal cancers. J Comput Assist Tomogr 1997;21:737-41.
12. Steiner G, Cairns P, Polascik TJ, Marshall FF, Epstein JI, Sidransky D, Schoenberg M. High-density mapping of chromosomal arm 1q in renal collecting duct carcinoma: region of minimal deletion at 1q32.1-32.2. Cancer Res 1996;56:5044-6.
13. Fuzesi L, Cober M, Mittermayer C. Collecting duct carcinoma: cytogenetic characterization. Histopathology 1992;2:155-60.
14. Kennedy SM, Merino MJ, Linehan WM, Roberts JR, Robertson CN, Neumann RD. Collecting duct carcinoma of the kidney. Hum Pathol 1990;4:449-56.
15. Stewart EA. Uterine fibroids. Lancet 2001;357:293-8.
16. Marshall LM, Spiegelman D, Barbieri RL, Goldman MB, Manson JE, Colditz GA, Willett WC, Hunter DJ. Variation in the incidence of uterine leiomyomata among premenopausal women by age and race. Obstet Gynecol 1997;90:967-73.
17. Keshavarz H, Hillis SD, Kieke BA, Marchbanks PA. Hysterectomy surveillance, United States, 1994-1999. MMWR Morb Mortal Wkly Rep 2002;51:1-8.
18. Baysal BE. Hereditary paraganglioma targets diverse paraganglia. J Med Genet 2002;39:617-22.
19. Vanharanta S, Buchta M, McWhinney SR, Virta SK, Peczkowska M, Morrison CD, Lehtonen R, Januszewicz A, Jarvinen H, Juhola M, Mecklin JP, Pukkala E, Herva R, Kiuru M, Nupponen NN, Aaltonen LA, Neumann HP, Eng C. Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma. Am J Hum Genet 2004;74:153-9.
20. Duan DR, Pause A, Burgess WH, Aso T, Chen DYT, Garret KP, Conaway RC, Conaway JW, Linehan WM, Klausner RD. Inhibition of transcription elongation by the VHL tumor suppressor protein. Science 1995;269:1402-6.
21. Kibel A, Iliopoulos O, DeCaprio JA, Kaelin WG. Binding of the von Hippel-Lindau tumor suppressor protein to Elongin B and C. Science 1995;269:1444-6.
22. Pause A, Lee S, Worrell RA, Chen DYT, Burgess WH, Linehan WM, Klausner RD. The von Hippel-Lindau tumor-suppressor gene product forms a stable complex with human CUL-2, a member or the Cdc53 family of proteins. Proc Natl Acad Sci U S A 1997;94:2156-61.
23. 2 sensing. Science 2001;292:464-8.
24. Kodo K, Kaelin WG Jr. The von Hippel-Lindau tumor suppressor gene. Exp Cell Res 2001;:264(1):117-25.
25. Issacs JS, Jun YJ, Mole DR, Lee S, Torres-Cabla C, Merino M, Trepel J, Zbar M, Toro J, Ratcliffe PJ, Linehan M, Neckers L. HIF overexpression correlates with biallelic loss of fumarate hydratase in renal cancer: novel role of fumarate in regulation of HIF stability. Cancer Cell 2005;8(2):143-53.
26. Selak MA, Armour SM, MacKenzie ED, Boulahbel B, Watson DG, Mansfield KD, Pan Y, Simon MC, Thompson CB, Gottlieb E. Succinate links TCA cycle dysfunction to oncogenesis by inhibiting HIF-prolyl hydroxylase. Cancer Cell 2004;7:77-85.
27. Di Lieto A, De Rosa G, De Falco M, Iannotti F, Staibano S, Pollio F, Scaramellino M, Salvatore G. Relationship between platelet-derived growth factor expression in leiomyomas and uterine volume changes after gonadotropin- releasing hormone agonist treatment. Hum Pathol 2002;33:220-4.
28. Poncelet C, Madelenat P, Feldmann G, Walker F, Darai E. Expression of von Willebrand's factor, CD34, CD31, and vascular endothelial growth factor in uterine leiomyomas. Fertil Steril 2002;78:581-6.
29. McClintock DS, Santore MT, Lee VY, Brunelle J, Budinger GR, Zong WX, Thompson CB, Hay N, Chandel NS. Bcl-2 family members and functional electron transport chain regulate oxygen deprivation-induced cell death. Mol Cell Biol 2002;22:94-104.
30. Chang WK, Yang KD, Chuang H, Jan JT, Shaio MF. Glutamine protects activated human T cells from apoptosis by up-regulating glutathione and Bcl-2 levels. Clin Immunol 2002;104(2):151-60.
31. Savolainen KM, Loikkanen J, Naarala J. Amplification of glutamate-induced oxidative stress. Toxicol Lett 1995;82-83:399-405.