The pressure rises: Update on the genetics of phaeochromocytoma

Human Molecular Genetics

Volumn 11, Issue 20, 2002, Pages 2347-2354

  Maher, Eamonn R ^a   Eng, Charis ^b,c  

^a UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^b OHIO STATE UNIVERSITY   (United States)

^c OHIO STATE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

SUCCINATE DEHYDROGENASE; SUCCINATE DEHYDROGENASE (UBIQUINONE);

ADRENAL MEDULLA; APOPTOSIS; CANCER GENETICS; CANCER SUSCEPTIBILITY; CARCINOGENESIS; CAROTID ARTERY BIFURCATION; CONTROLLED STUDY; ENZYME SUBUNIT; FAMILIAL CANCER; FREQUENCY ANALYSIS; GERM LINE; HEAD AND NECK TUMOR; HEREDITY; HUMAN; HYPOXIA; MITOCHONDRION; MULTIPLE ENDOCRINE NEOPLASIA; MUTATIONAL ANALYSIS; NEURAL CREST; NEUROFIBROMATOSIS; PARAGANGLIOMA; PHEOCHROMOCYTOMA; PRIORITY JOURNAL; REVIEW; VASCULAR TUMOR; VON HIPPEL LINDAU DISEASE;

EID: 0036798174     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/11.20.2347     Document Type: Review

References (75)

1. Latif, F., Tory, K., Gnarra, J., Yao, M., Duh, F.-M., Orcutt, M.-L., Stackhouse, T., Kuzmin, I., Modi, W, Geil, L. et al. (1993) Identification of the von Hippel-Lindau disease tumor suppressor gene. Science, 260, 1317-1320.
2. Mulligan, L.M., Eng, C., Healey, C.S., Clayton, D., Kwok, J.B.J., Gardner, E., Ponder, M.A., Frilling, A., Jackson, C.E., Lehnert, H. et al. (1994) Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC. Nat. Genet., 6, 70-74.
3. Eng, C., Clayton, D., Schuffenecker, I., Lenoir, G., Cote, G., Gagel, R.F., Ploos van Amstel, H.K., Lips, C.J.M., Nishisho, I., Takai, S.-I. et al. (1996) The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2: International RET Mutation Consortium analysis. JAMA, 276, 1575-1579.
4. Crossey, P.A., Eng, C., Ginalska-Malinoswska, M., Lennard, T.W.J., Wheeler, D., Ponder, B.A.J. and Maher, E.R. (1995) Molecular genetic diagnosis of von Hippel-Lindau disease in familial phaeochromocytoma. J. Med. Genet., 32, 885-886.
5. Woodward, E.R., Eng, C., McMahon, R., Affara, N.A., Ponder, B.A.J. and Maher, E.R. (1997) Genetic predisposition to phaeochromocytoma: analysis of candidate genes GDNF, RET and VHL. Hum. Mol. Genet., 6, 1051-1056.
6. Neumann, H.P.H., Eng, C., Mulligan, L.M., Glavac, D., Zaüner, I., Ponder, B.A.J., Crossey, P.A., Maher, E.R. and Branch, H. (1995) Consequences of direct genetic testing for germ-line mutations in the clinical management of families with multiple endocrine neoplasia type 2. JAMA, 274, 1149-1151.
7. Baysal, B.E., Ferrell, R.E., Willett-Brozick, J.E., Lawrence, E.C., Myssiorek, D., Bosch, A., van der Mey, A., Taschner, P.E., Rubinstein, W.S., Myers, E.N. et al. (2000) Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. Science, 287, 848-851.
8. Gimm, O., Armanios, M., Dziema, H., Neumann, H.P.H. and Eng, C. (2000) Somatic and occult germline mutations in SDHD, a mitochondrial complex II gene, in non-familial pheochromocytomas. Cancer Res., 60, 6822-6825.
9. Astuti, D., Douglas, F., Lennard, T.W.J., Agaliaganis, I., Woodward, E.R., Evans, D.G.R., Eng, C., Latif, F. and Maher, E.R. (2001) Germline SDHD mutation in familial phaeochromocytoma. Lancet, 357, 1181-1182.
10. Astuti, D., Latif, F., Dallol, A., Dahia, P.L.M., Douglas, F., George, E., Sköldberg, F., Husebye, E.S., Eng, C. and Maher, E.R. (2001) Mutations in the mitochondrial complex II subunit SDHB cause susceptibility to familial paraganglioma and pheochromocytoma. Am. J. Hum. Genet., 69, 49-54.
11. Niemann, S. and Muller, U. (2000) Mutations in SDHC cause autosomal dominant paraganglioma. Nat. Genet., 26, 141-150.
12. Kaelin, W.G. and Maher, E.R. (1998) The VHL tumour suppressor gene paradigm. Trends Genet., 14, 423-426.
13. Clifford, S.C. and Maher, E.R. (2001) von Hippel-Lindau disease: clinical and molecular perspectives. Adv. Cancer Res,, 82, 85-105.
14. Maher, E.R., Yates, J.R., Harries, R., Benjamin, C., Harris, R., Moore, A.T. and Ferguson-Smith, M.A. (1990) Clinical features and natural history of von Hippel-Lindau disease. Q.J. Med., 77, 1151-1163.
15. Branch, H., Kishida, T., Glavac, D., Chen, F., Pausch, F., Hofler, H., Latif, F., Lerman, M.I., Zbar, B. and Neumann, H.P.H. (1995) von Hippel Lindau (VHL) diseaes with pheochromocytoma in the Black Forest region of Germany: evidence for a founder effect. Hum. Genet., 95, 551-556.
16. Bender, B.U., Eng, C., Olschewski, M., Berger, D.P., Laubenberger, J., Altehöfer, C., Kirste, G., Orzagh, M., van Belthoven, V, Miosczka, H. et al. (2001) VHL c.505T > C mutation confers a high age-related penetrance but no increased overall mortality. J. Med. Genet., 38, 508-514.
17. Libutti, S.K., Choyke, P.L., Bartlett, D.L., Vargas, H., Walther, M., Lubensky, I., Glenn, G., Linehan, W.M. and Alexander, H.R. (1998) Pancreatic neuroendocrine tumors associated with von Hippel-Lindau disease. Surgery, 124, 1153-1159.
18. Crossey, P.A., Richards, F.M., Foster, K., Green, J.S., Prowse, A., Latif, F., Lerman, M.I., Zbar, B., Affara, N.A., Ferguson-Smith, M.A. and Maher, E.R. (1994) Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype. Hum. Mol. Genet., 3, 1303-1308.
19. Richards, F.M., Payne, S.J., Zbar, B., Affara, N.A., Ferguson-Smith, M.A. and Maher, E.R. (1995) Molecular analysis of de novo germline mutations in the von Hippel-Lindau diseae gene. Hum. Mol. Genet., 4, 2139-2143.
20. Chen, F., Kishida, T., Yao, M., Hustad, T., Glavac, D., Dean, M., Gnarra, J.R., Orcutt, M.L., Duh, F.M., Glenn, G. et al. (1995) Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype. Hum. Mutat., 5, 66-75.
21. Zbar, B., Kishida, T., Chen, F., Schmidt, L., Maher, E.R., Richards, F.M., Crossey, P.A., Webster, A.R., Affara, N.A., Ferguson-Smith, M.A. et al. (1996) Germline mutations in the von Hippel-Lindau disease (VHL) gene in families from North American, Europe and Japan. Hum. Mutat., 8, 348-357.
22. Maher, E.R., Webster, A.R., Richards, F.M., Green, J.S., Crossey, P.A., Payne, S.J. and Moore, A.T. (1996) Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL mutations. J. Med. Genet., 81, 328-332.
23. Webster, A.R., Richards, F.M., MacRonald, F.E., Moore, A.T. and Maher, E.R. (1998) An analysis of phenotypic variation in the familial cancer syndrome von Hippel-Lindau disease: evidence for modifier effects. Am. J. Hum. Genet., 63, 1025-1035.
24. Pause, A., Lee, S., Lonergan, K.M. and Klausner, R.D. (1998) The von Hippel Lindau tumor suppressor gene is required for cell cycle exit upon serum withdrawal. Proc. Natl Acad. Sci. USA, 95, 993-998.
25. Ohh, M., Yauch, R.L., Lonergan, K.M., Whaley, J.M., Stemmer-Rachamimov, A.C., Louis, D.N., Gavin, B.J., Kley, N., Kaelin, WG. and Iliopoulos, O. (1998) The von Hippel-Lindau tumor suppressor protein is required for proper assembly of an extracellular fibronectin matrix. Mol. Cell, 1, 959-968.
26. Pioli, P.A. and Rigby, W.F. (2001) The von Hippel-Lindau protein interacts with heteronuclear ribonucleoprotein a2 and regulates its expression. J. Biol. Chem., 276, 40346-40352.
27. Maxwell, P.H., Wiesener, M.S., Chang, G.W, Clifford, S.C., Vaux, E.C., Cockman, M.E., Wykoff, C.C., Pugh, C.W., Maher, E.R. and Ratcliffe, P.J. (1999) The tumour suppressor protein VHL targets hypoxia-inducible factors for oxygen-dependent proteolysis. Nature, 399, 271-275.
28. Cockman, M.E., Masson, N., Mole, D.R., Jaakkola, P., Chang, G.W., Clifford, S.C., Maher, E.R., Pugh, C.W., Ratcliffe, P.J. and Maxwell, P.H. (2000) Hypoxia-inducible factor-α binding and ubiquitylation by the von Hippel-Lindau tumor suppressor protein. J. Biol. Chem., 275, 25733-25741.
29. Clifford, S.C., Cockman, M.E., Smallwood, A.C., Mole, D.R., Woodward, E.R., Maxwell, P.H., Ratcliffe, P.J. and Maher, E.R. (2001) Contrasting effects on HIF-1α regulation by disease-causing pVHL mutations correlate with patterns of tumourigenesis in von Hippel-Lindau disease. Hum. Mol. Genet., 10, 1029-1038.
30. Maxwell, P.H. and Ratcliffe, P.J. (2002) Oxygen sensors and angiogenesis. Semin. Dev. Biol., 3, 29-37.
31. Pause, A., Lee, S., Worrell, R.A., Chen, D.Y., Burgess, W.H., Linehan, W.M. and Klausner, R.D. (1997) The von Hippel-Lindau tumor-suppressor gene product forms a stable complex with human CUL-2, a member of the Cdc53 family of proteins. Proc. Natl Acad. Sci. USA, 94, 2156-2161.
32. Lonergan, K.M., Iliopoulos, O., Ohh, M., Kamura, T., Conaway, R.C., Conaway, J.W. and Kaelin, W.G. (1998) Regulation of the hypoxia-inducible mRNAs by the von Hippel-Lindau tumor suppressor protein requires binding to complexes containing elongins B/C and Cul2. Mol. Cell. Biol., 1998, 732-741.
33. Kamura, T., Koepp, D.M., Conrad, M.N., Skowyra, D., Moreland, R.J., Iliopoulos, O., Lane, W.S., Kaelin, W.G., Elledge, S.J., Conaway, R.C. et al. (1999) Rbx1, a component of the VHL tumor suppressor complex and SCF ubiquitin ligase. Science, 284, 657-661.
34. Stebbins, C.E., Kaelin, W.G. and Pavletich, N.P. (1999) Structure of the VHL Elongin C-Elongin B complex: implications for VHL tumor suppressor gene function. Science, 284, 455-461.
35. Hoffman, M.A., Ohh, M., Yang, H., Kleo, J.M., Ivan, M. and Kaelin, W.G. (2001) von Hippel-Lindau protein mutants linked to type 2C VHL disease preserve the ability to downregulate HIF. Hum. Mol. Genet., 10, 1019-1027.
36. Kondo, K., Klco, J., Nakamura, E., Lechpammer, M. and Kaelin, W.G. (2002) Inhibition of HIF is necessary for tumor suppression by the von Hippel-Lindau protein. Cancer Cell, 1, 237-246.
37. Maranchie, J.K., Vasselli, J.R., Riss, J., Bonifacino, J.S., Linehan, W.M. and Klausner, R.D. (2002) The contribution of VHL substrate binding and HIF-1α to the phenotype of VHL loss in renal cell carcinoma. Cancer Cell, 1, 247-255.
38. Zatyka, M., Fernandes de Silva, N., Clifford, S.C., Morris, M.R., Richards, F.M., Houlston, R., Latif, F. and Maher, E.R. (2002) Identification of cyclin D1 (CCND1) and other novel targets for the VHL tumor suppressor gene by expression array analysis and investigation of CCND1 genotype as a modifier in von Hippel-Lindau disease. Cancer Res., 62, 3803-3871.
39. Eng, C., Hampel, H. and de la Chapelle, A. (2001) Genetic testing for cancer predisposition. Annu. Rev. Med., 52, 371-400.
40. Mulligan, L.M., Kwok, J.B.J., Healey, C.S., Elsdon, M.J., Eng, C., Gardner, E., Love, D.R., Mole, S.E., Moore, J.K., Papi, L. et al. (1993) Germline mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. Nature, 363, 458-460.
41. Hofstra, R.M.W., Landsvater, R.M., Ceccherini, I., Stulp, R.P., Stelwagen, T., Luo, Y., Pasini, B., Höppener, J.W.M., Ploos van Amstel, H.K., Romeo, G. et al. (1994) A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma. Nature, 367, 375-376.
42. Eng, C., Smith, D.P., Mulligan, L.M., Nagai, M.A., Healey, C.S., Ponder, M.A., Gardner, E., Scheumann, G.F.W., Jackson, C.E., Tunnacliffe, A. and Ponder, B.A.J. (1994) Point mutation within the tyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumours. Hum. Mol. Genet., 3, 237-241.
43. Eng, C., Smith, D.P., Mulligan, L.M., Healey, C.S., Zvelebil, M.J., Stonehouse, T.J., Ponder, M.A., Jackson, C.E., Waterfield, M.D. and Ponder, B.A.J. (1995) A novel point mutation in the tyrosine kinase domain of the RET proto-oncogene in sporadic medullary thyroid carcinoma and in a family with FMTC. Oncogene, 10, 509-513.
44. Gimm, O., Marsh, D.J., Andrew, S.D., Frilling, A., Dahia, P.L.M., Mulligan, L.M., Zajak, J.D., Robinson, B.G. and Eng, C. (1997) Germline dinucleotide mutation in codon 883 of the RET proto-oncogene in multiple endocrine neoplasia type 2B without codon 918 mutation. J. Clin. Endocrinol. Metab., 82, 3902-3904.
45. Smith, D.P., Houghton, C. and Ponder, B.A.J. (1997) Germline mutation of RET codon 883 in two cases of de novo MEN 2B. Oncogene, 15, 1213-1217.
46. Schuffenecker, I., Ginet, N., Goldgar, D., Eng, C., Chambe, B., Boneu, A., Houdent, C., Pallo, D., Schlumberger, M., Thivolet, C. and Lenoir, G.M. (1997) Prevalence and parental origin of de novo RET mutations in MEN 2A and FMTC. Am. J. Hum. Genet., 60, 233-237.
47. Schuffenecker, I., Billaud, M., Calender, A., Chambe, B., Ginet, N., Calmettes, C., Modigliani, E., Lenoir, G.M. and GETC (1994) RET proto-oncogene mutations in French MEN 2A and FMTC families. Hum. Mol. Genet., 3, 1939-1943.
48. Frank-Raue, K., Höppner, W., Frilling, A., Kotzerke, J., Dralle, H., Haase, R., Mann, K., Seif, F., Kirchner, R., Rendl, J. et al. (1996) Mutations of the RET proto-oncogene in German MEN families: relation between genotype and phenotype. J. Clin. Endocrinol. Metab., 81, 1780-1783.
49. Mulligan, L.M., Marsh, D.J., Robinson, B.G., Schuffenecker, I., Zedenius, J., Lips, C.J.M., Gagel, R.F., Takai, S.-I., Noll, W.W., Fink, M. et al. (1995) Genotype-phenotype correlation in MEN 2: Report of the International RET Mutation Consortium. J. Intern. Med., 238, 343-346.
50. Nilsson, O., Tissell, L.-E., Jansson, S., Ahlman, H., Gimm, O. and Eng, C. (1999) Adrenal and extra-adrenal pheochromocytomas in a family with germline RET V804L mutation. JAMA, 281, 1587-1588.
51. Arias-Sella, J. and Valcarcel, J. (1976) Chief cell hyperplasia in the human carotid body at high altitudes; physiologic and pathologic significance. Hum. Pathol., 7, 361-373.
52. Baysal, B.E. (2002) Hereditary paraganglioma targets diverse paranglia. J. Med. Genet., 39, 617-622.
53. Kroll, A.J., Alexander, B., Cochios, F. and Pechet, L. (1964) Hereditary deficiencies of clotting factors VII and X associated with carotid-body tumors. N. Engl. J. Med., 270, 6-13.
54. van der Mey, A.G., Maaswinkel-Mooy, P.D., Cornelisse, C.J., Schmidt, P.H. and van de Kamp, J.J. (1989) Genomic imprinting in hereditary glomus tumours: evidence for new genetic theory. Lancet, ii, 1291-1294.
55. Heutink, P., van der Mey, A.G.L., Sandkuijl, L.A., van Gils, A.P., Bardoel, A., Breedveld, G.J., van Vliet, M., van Ommen, G.J., Cornelisse, C.J. and Oostra, B.A. (1992) A gene subject to genomic imprinting and responsible for hereditary paragangliomas maps to 11q23-qter. Hum. Mol. Genet., 1, 7-10.
56. Heutink, P., van Schothorst, E.M. and van der Mey, A.G.L. (1994) Further localization of the gene for hereditary paragangliomas and evidence for linkage in unrelated families. Eur. J. Hum. Genet., 2, 148-158.
57. Taschner, P.E., Jansen, J.C., Baysal, B.E., Bosch, A., Rosenberg, E.H., Brocker-Viends, A.H., van der Mey, A.G., van Ommen, G.J., Cornelisse, C.J. and Devilee, P. (2001) Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene. Genes Chromosomes Cancer, 31, 274-281.
58. Bourman, T., Rustin, R, Chretien, D., Birch-Machin, M., Bourgeois, M., Viegas-Pequignot, E., Munnich, M.A. and Rotig, A. (1995) A mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency. Nat. Genet., 11, 144-149.
59. Birch-Machin, M.A., Taylor, R.W, Cochran, B., Ackrell, B.A. and Turnbull, D.M. (2000) Late-onset optic atrophy, ataxia and myopathy associated with a mutation of a complex II gene. Ann. Neurol., 48, 330-335.
60. Mariman, E.C.M., van Beersum, S.E.C., Cremers, C.W.R.J., Struycken, P.M. and Ropers, H.H. (1995) Fine mapping of a putatively imprinted gene for familial non-chromaffin paragangliomas to chromosome 11q13.1. Hum. Genet., 95.
61. Offit, K., Biesecker, B.B., Burt, R.W., Clayton, E.W, Garber, J.E. and Kahn, M.J.E. (1996) Statement of the American Society of Clinical Oncology-Genetic testing for cancer susceptibility. J. Clin. Oncol., 14, 1730-1736.
62. Baysal, B.E., Willett-Brozick, J.E., Lawrence, E.C., Drovdlic, C.M., Savul, S.A., McLeod, D.R., Yee, H.A., Brackmann, D.E., Slattery, W.H., III, Myers, E.N. et al. (2002) Prevalence of SDHB, SDHC and SDHD in clinic patients with head and neck paragangliomas. J. Med. Genet, 39, 178-183.
63. Neumann, H.P.H., Brauch, B., McWhinney, S.R., Bender, B.U., Gimm, O., Franke, G., Schipper, J., Klisch, J., Altchöher, C., Zerres, K., Januszewicz, A. and Eng, C. (2002) Germ-line mutations in nonsyndromic pheochromocytoma. N. Engl. J. Med, 346, 1459-1466.
64. Chandel, N.S., Maltepe, E., Goldwasser, E., Mathieu, C.E., Simon, M.C. and Schumacker, P.T. (1998) Mitochondrial reactive oxygen species trigger hypoxia-induced transcription. Proc. Natl Acad. Sci. USA, 95, 11715-11720.
65. Gimenez-Roqueplo, A.-P., Favier, J., Rustin, P., J.-J., M., Plouin, P.-F., Corvol,P., Rötig, A. and Jeunemaitre, X. (2001) The R22X mutation of the SDHD gene in hereditary paraganglioma abolishes enzymatic activity of the complex II mitochondrial respiratory chain and activates the hypoxia pathway. Am. J. Hum. Genet., 69, 1186-1197.
66. Green, D.R. and Reed, J.C. (1998) 1998 Mitochondria and apoptosis. Science, 281, 1309-1312.
67. Gnarra, J.R., Tory, K., Weng, Y., Schmidt, L., Wei, M.H., Li, H., Latif, F., Liu, S., Chen, F., Duh, F.-M. et al. (1994) Mutations of the VHL tumor-suppressor gene in non-familial renal carcinoma. Nat. Genet., 7, 85-90.
68. Foster, K., Crossey, P.A., Cairns, P.H., Hetherington, J.W., Richards, F.M., Bentley, E., Affara, N.A., Ferguson-Smith, M.A. and Maher, E.R. (1994) Molecular genetic investigation of sporadic renal cell carcinoma: analysis of allele loss on chromosomes 3p, 5q, 11p, 17 and 22. Br. J. Cancer, 69, 230-234.
69. Herman, J.G., Latif, F., Weng, Y, Lerman, M.I., Zbar, B., Liu, S., Samid, D., Duan, D.S., Gnarra, J., Linehan, W.M. and Baylin, S.B. (1994) Silencing of the VHL tumor-suppressor gene by DNA methylation in renal carcinoma. Proc. Natl Acad. Sci. USA, 91, 9700-9704.
70. Eng, C., Crossey, P.A., Mulligan, L.M., Healey, C.S., Houghton, C., Prowse, A., Chew, S.L., Dahia, P.L.M., O'Riordan, J.L.H., Toledo, S.P.A. et al. (1995) Mutations of the PET proto-oncogene and the von Hippel-Lindau disease tumour suppressor gene in sporadic and syndromic phaeochromocytoma. J. Med. Genet., 32, 934-937.
71. Clifford, S.C., Prowse, A.H., Affara, N.A., Buys, C.H.C.M. and Maher, E.R. (1998) Inactivation of the von Hippel-Lindau tumour suppressor gene and allelic losses of chromosome arm 3p in primary renal cell carcinoma: evidence for a VHL-independent pathway in clear cell renal tumourigenesis. Genes Chromosomes Cancer, 22, 200-209.
72. Prowse, A.H., Webster, A.R., Richard, F.M., Richard, S., Olschwang, S., Resche, F., Affara, N.A. and Maher, E.R. (1997) Somatic inactivation of the VHL gene in von Hippel-Lindau disease tumors. Am. J. Hum. Genet., 60, 765-771.
73. Hofstra, R.M.W, Stelwagen, T., Stulp, R.P., de Jong, D., Hulsbeek, M., Kamsteeg, E.J., van den Berg, A., Landsvater, R.M., Vermey, A., Molenaar, W.M. et al. (1996) Extensive mutation scanning of RET in sporadic medullary thyroid carcinoma and of RET and VHL in sporadic pheochromocytoma reveals involvement of these genes in only a minority of cases. J. Clin. Endocrinol. Metab., 81, 2881-2884.
74. Aguiar, R.C.T., Cox, G., Pomeroy, S.L. and Dahia, P.L.M. (2001) Analysis of the SDHD gene, the susceptibility gene for familial paraganglioma syndrome (PGL1), in pheochromocytoma. J. Clin. EndocrinoL Metab., 86, 2890-2894.
75. Kytölä, S., Nord, B., Edström Elder, E., Carling, T., Kjellman, M., Cedermark, B., Juhlin, C., Höög, A., Isola, J. and Larsson, C. (2002) Alterations of the SDHD gene locus in midgut carcinoids, Merkel cell carcinomas, pheochromocytomas and abdominal paragangliomas. Genes Chromosomes Cancer, 34, 325-332.