Analysis of fumarate hydratase mutations in a population-based series of early onset uterine leiomyosarcoma patients

International Journal of Cancer

Volumn 119, Issue 2, 2006, Pages 283-287

  Ylisaukko Oja, Sanna K ^a   Kiuru, Maija ^a   Lehtonen, Heli J ^a   Lehtonen, Rainer ^a   Pukkala, Eero ^b   Arola, Johanna ^c   Launonen, Virpi ^a   Aaltonen, Lauri A ^a  

^a UNIVERSITY OF HELSINKI   (Finland)

^b FINNISH CANCER REGISTRY   (Finland)

^c UNIVERSITY OF HELSINKI   (Finland)

Author keywords

FH enzyme activity; Fumarate hydratase; HLRCC; Uterine leiomyosarcoma

Indexed keywords

FUMARATE HYDRATASE;

ADOLESCENT; ADULT; AGED; ALLELE; ARTICLE; CANCER REGISTRY; CHILD; CLINICAL FEATURE; ENZYME ACTIVITY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC PREDISPOSITION; HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER SYNDROME; HUMAN; HUMAN TISSUE; INFANT; KIDNEY CANCER; LEIOMYOMATOSIS; LEIOMYOSARCOMA; MAJOR CLINICAL STUDY; MISSENSE MUTATION; PATHOGENESIS; POPULATION RESEARCH; PRIORITY JOURNAL; SKIN TUMOR; UTERUS LEIOMYOSARCOMA; UTERUS TUMOR;

ADOLESCENT; ADULT; AGE OF ONSET; AGED; ALLELIC IMBALANCE; AMINO ACID SEQUENCE; ARGININE; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; DNA, NEOPLASM; FEMALE; FUMARATE HYDRATASE; GERM-LINE MUTATION; HUMANS; INFANT; LEIOMYOSARCOMA; LYSINE; MALE; MIDDLE AGED; MUTATION, MISSENSE; UTERINE NEOPLASMS;

EID: 33745190319     PISSN: 00207136     EISSN: 10970215     Source Type: Journal    
DOI: 10.1002/ijc.21798     Document Type: Article

References (28)

1. Barbieri RL, Andersen J. Uterine leiomyomas, the somatic mutation theory. Semin Reprod Endocrinol 1992;10:301-9.
2. Walker CL, Stewart EA. Uterine fibroids: the elephant in the room. Science 2005;308:1589-92.
3. Packenham JP, du Manoir S, Schrock E, Risinger JI, Dixon D, Denz DN, Evans JA, Berchuck A, Barren JC, Devereux TR, Ried T. Analysis of genetic alterations in uterine leiomyomas and leiomyosarcomas by comparative genomic hybridization. Mol Carcinog 1997;19:273-9.
4. Levy B, Mukherjee T, Hirschhorn K. Molecular cytogenetic analysis of uterine leiomyoma and leiomyosarcoma by comparative genomic hybridization. Cancer Genet Cytogenet 2000;121:1-8.
5. Hu J, Khanna V, Jones M, Surti U. Genomic alterations in uterine leiomyosarcomas: potential markers for clinical diagnosis and prognosis. Genes Chromosomes Cancer 2001;31:117-24.
6. de Vos S, Wilczynski SP, Fleischhacker M, Koeffler P. p53 alterations in uterine leiomyosarcomas versus leiomyomas. Gynecol Oncol 1994; 54:205-8.
7. Amant F, de la Rey M, Dorfling CM, van der Walt L, Dreyer G, Dreyer L, Vergote I, Lindeque BG, van Rensburg EJ. PTEN mutations in uterine sarcomas. Gynecol Oncol 2002;85:165-9.
8. Skubitz KM, Skubitz AP. Differential gene expression in leiomyosarcoma. Cancer 2003;98:1029-38.
9. 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 USA 2001;98: 3387-92.
10. Tomlinson IP, Alam NA, Rowan AJ, Barclay E, Jaeger EE, Kelsell D, Leigh I, Gorman P, Lamlum H, Rahman S, Roylance RR, Olpin S, et al. Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. Nat Genet 2002;30:406-10.
11. Alam NA, Barclay E, Rowan AJ, Tyrer JP, Calonje E, Manek S, Kelsell D, Leigh I, Olpin S, Tomlinson IP. Clinical features of multiple cutaneous and uterine leiomyomatosis: an underdiagnosed tumor syndrome. Arch Dermatol 2005;141:199-206.
12. 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.
13. Alam NA, Rowan AJ, Wortham NC, Pollard PJ, Mitchell M, Tyrer JP, Barclay E, Calonje E, Manek S, Adams SJ, Bowers PW, Burrows NP, 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.
14. Toro JR, Nickerson ML, Wei MH, Warren MB, Glenn GM, Turner ML, Stewart L, Duray P, Tourre O, Sharma N, Choyke P, Stratton P, et al. 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.
15. Kiuru M, Launonen V. Hereditary leiomyomatosis and renal cell cancer (HLRCC). Curr Mol Med 2004;4:869-75.
16. Chan I, Wong T, Martinez-Mir A, Christiane AM, McGrath JA. Familial multiple cutaneous and uterine leiomyomas associated with papillary renal cell cancer. Clin Exp Dermatol 2005;30:75-8.
17. Wei MH, Toure O, Glenn G, Pithukpakorn M, Neckers L, Stolle C, Choyke P, Grubb R, Middleton L, Turner ML, Walther M, Merino M, 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 2006;43:18-27.
18. Lehtonen HJ, Kiuru M, Ylisaukko-oja SK, Salovaara R, Herva R, Koivisto PA, Vierimaa O, Aittomäki K, Pukkala E, Launonen V, Aaltonen LA. Increased risk of cancer in patients with fumarate hydratase germline mutation. J Med Genet 2005 doi: 10.1138/jmg 2005. 036400. [Epub ahead of print].
19. Reed WB, Walker R, Horowitz R. Cutaneous leiomyomata with uterine leiomyomata. Acta Derm Venereol 1973;53:409-16.
20. Kiuru M, Lehtonen R, Arola J, Salovaara R, Jarvinen H, Aittomaki K, Sjoberg J, Visakorpi T, Knuutila S, Isola J, Delahunt B, Herva R, et al. Few FH mutations in sporadic counterparts of tumor types observed in hereditary leiomyomatosis and renal cell cancer families. Cancer Res 2002;62:4554-7.
21. Lehtonen R, Kiuru M, Rokman A, Ikonen T, Cunningham JM, Schaid DJ, Matikainen M, Nupponen NN, Karhu A, Kallioniemi OP, Thibodeau SN, Schleutker J, Aaltonen LA. No fumarate hydratase (FH) mutations in hereditary prostate cancer. J Med Genet 2003;40:e19.
22. Hatch MD. A simple spectrophotometric assay for fumarate hydratase in crude tissue extracts. Anal Biochem 1978;85:271-5.
23. Barker KT, Bevan S, Wang R, Lu YJ, Flanagan AM, Bridge JA, Fisher C, Finlayson CJ, Shipley J, Houlston RS. Low frequency of somatic mutations in the FH/multiple cutaneous leiomyomatosis gene in sporadic leiomyosarcomas and uterine leiomyomas. Br J Cancer 2002;87:446-8.
24. Lehtonen R, Kiuru M, Vanharanta S, Sjoberg J, Aaltonen LM, Aittomaki K, Arola J, Butzow R, Eng C, Husgafvel-Pursiainen K, Isola J, Jarvinen H, et al. Biallelic inactivation of fumarate hydratase (FH) occurs in nonsyndromic uterine leiomyomas but is rare in other tumors. Am J Pathol 2004;164:17-22.
25. Morris MR, Maina E, Morgan NV, Gentle D, Astuti D, Moch H, Kishida T, Yao M, Schraml P, Richards FM, Latif F, Maher ER. Molecular genetic analysis of FIH-1, FH, and SDHB candidate tumour suppressor genes in renal cell carcinoma. J Clin Pathol 2004;57:706-11.
26. Barker KT, Spendlove HE, Banu NS, Bridge JA, Fisher C, Shipley J, Garrett M, Manyonda I, Houlston RS. No evidence for epigenetic inactivation of fumarate hydratase in leiomyomas and leiomyosarcomas. Cancer Lett 2005;7 doi: 10.1016/j.canlet 2005.04.017. [Epub ahead of print]
27. Martinez-Mir A, Glaser B, Chuang GS, Horev L, Waldman A, Engler DE, Gordon D, Spelman LJ, Hatzibougias I, Green J, Christiano AM, Zlotogorski A. Germline fumarate hydratase mutations in families with multiple cutaneous and uterine leiomyomata. J Invest Dermatol 2003;121:741-4.
28. Chuang GS, Martinez-Mir A, Geyer A, Engler DE, Glaser B, Cserhalmi-Friedman PB, Gordon D, Horev L, Lukash B, Herman E, Cid MP, Brenner S, et al. Germline fumarate hydratase mutations and evidence for a founder mutation underlying multiple cutaneous and uterine leiomyomata. J Am Acad Dermatol 2005;52:410-6.