A family with hereditary extra-adrenal paragangliomas without evidence for mutations in the von Hippel-Lindau disease or ret genes

Clinical Endocrinology

Volumn 48, Issue 1, 1998, Pages 11-16

  Skoldberg F ^a   Grimelius, L ^a   Woodward, E R ^b   Rorsman, F ^a   Van Schothorst, E W ^c   Winqvist, O ^a   Karlsson, F A ^a   Akerstrom G ^a   Kampe O ^a   Husebye, E S ^a,d  

^a UPPSALA UNIVERSITY HOSPITAL   (Sweden)

^b UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^c LEIDEN UNIVERSITY   (Netherlands)

^d HAUKELAND UNIVERSITY HOSPITAL   (Norway)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; EXON; GENE AMPLIFICATION; GENE MUTATION; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MULTIGENE FAMILY; NEURAL CREST; NEUROENDOCRINE TUMOR; PARAGANGLIOMA; PRIORITY JOURNAL; PROTO ONCOGENE; RETROPERITONEUM; SINGLE STRAND CONFORMATION POLYMORPHISM; TUMOR LOCALIZATION; TUMOR SUPPRESSOR GENE; VON HIPPEL LINDAU DISEASE;

ADOLESCENT; ADULT; DROSOPHILA PROTEINS; FEMALE; GENES, TUMOR SUPPRESSOR; GENOTYPE; GERM-LINE MUTATION; HEAD AND NECK NEOPLASMS; HIPPEL-LINDAU DISEASE; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; NEOPLASMS, MULTIPLE PRIMARY; PARAGANGLIOMA, EXTRA-ADRENAL; PEDIGREE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTO-ONCOGENE PROTEINS; PROTO-ONCOGENE PROTEINS C-RET; RECEPTOR PROTEIN-TYROSINE KINASES; RETROPERITONEAL NEOPLASMS;

EID: 0031938588     PISSN: 03000664     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2265.1998.00320.x     Document Type: Article

References (25)

1. Bassam, B.J., Caetano-Anollés, G. & Gresshoff, P.M. (1991) Fast and sensitive silver staining of DNA in polyacrylamide gels. Analytical Biochemistry, 196, 80-83.
2. Bogdasarian, R.S. & Lotz, P.R. (1979) Multiple simultaneous paragangliomas of the head and neck in association with multiple retroperitoneal pheochromocytomas. Otolaryngology - Head and Neck Surgery, 87, 648-652.
3. Brauch, H., Kishida, T., Glavac, D., Chen, F., Pausch, F., Hofler, H., Latif, F., Lerman, M.I., Zbar, B. & Neumann, H.P. (1995) Von Hippel-Lindau (VHL) disease with pheochromocytoma in the black forest region of Germany: evidence for a founder effect. Human Genetics, 95, 551-556.
4. Chen, F., Kishida, K., Yao, M., Hustad, T., Glavac, D., Dean, M., Gnarra, J.R., Orcutt, M.L., Duh, F.M., Glenn, G., Green, J., Hsia, Y.E., Lamiell, J., Li, H., Wei, M.H., Schmidt, L., Tory, K., Kuzmin, I., Stackhouse, T., Latif, F., Linehan, W.M., Lerman, M. & Zbar, B. (1995) Germline mutations in the von Hippel-Lindau disease tumour suppressor gene: correlations with phenotype. Human Mutations, 5, 66-75.
5. Crossey, P.A., Eng, C., Ginalska-Malinowska, M., Lennard, T.W.J., Wheeler, D.C., Ponder, B.A.J. & Maher, E.R. (1995) Molecular genetic diagnosis of von Hippel-Lindau disease in familial pheochromocytoma. Journal of Medical Genetics, 32, 885-886.
6. 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. & Maher, E.R. (1994) Identification of intragenic mutations in the Von-Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype. Human Molecular Genetics, 3, 1303-1308.
7. Donis-Keller, H., Dou, S., Chi, D., Carlson, K.M., Toshima, K., Lairmore, T.C., Howe, J.R., Moley, J.F., Goodfellow, P. & Wells, S.A. Jr (1993) Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC. Human Molecular Genetics, 2, 851-856.
8. Gross, J.G., Avishai, N., Meiner, V., Filon, D., Zbar, B. & Abeliovich, D. (1996) Familial pheochromocytoma associated with a novel mutation in the von Hippel-Lindau gene. Journal of Clinical Endocrinology and Metabolism, 81, 147-149.
9. Heutink, P., van der Mey, A.G.L., Sandkuijl, L.A., van Gils, A.G.P., Bardoel, A., Breedfeld, G.J., van Vliet, M., Ommen, G.J., Cornelisse, C.J., Ostra, B.A., Weber, J.L. & Devilee, P. (1992) A gene subject to genomic imprinting and responsible for hereditary paraganglioma maps to chromosome 11q23-qter. Human Molecular Genetics, 1, 7-10.
10. Heutink, P., Van Schothorst, E., Van Der Mey, A., Bardoel, A., Pertijs, J., Sandkuijl, L., Van Ommen, G., Cornelisse, C., Oostra, B. & Devilee, P. (1994) Further localization of the gene for hereditary paragangliomas and evidence for linkage in unrelated families. European Journal of Human Genetics, 2, 148-158.
11. Hofstra, R.M., Landsvater, R.M., Ceccherini, I., Stulp, R.P., Stelwagen, T., Luo, Y., Pasini, B., Hoppener, J.W., van Amstel, H.K., Romeo, G., Lips, C.J.M. & Buys, H.C.M. (1994) A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma. Nature, 367, 375-376.
12. Isola, J., De Vries, S., Chu, L., Ghazvini, S. & Waldman, F. (1994) Analysis of changes in DNA sequence copy number by comparative genomic hybridization in archival paraffin-embedded tumor samples. American Journal of Pathology, 145, 1301-1308.
13. Jensen, C.J., Choyke, P.L., Rosenfeld, M., Pass, H.I., Keiser, H., White, B., Travis, W. & Linehan, M. (1991) A report of familial carotid body tumours and multiple extra-adrenal pheochromocytomas. Journal of Urology, 145, 1040-1042.
14. Latif, F., Tory, K., Gnarra, J., Yao, M., Duh, F.M., Orcutt, M.L., Stackhouse, T., Kuzmin, I., Modi, W., Geil, L., Schmidt, L., Zhou, F., Li, H., Wei, M.H., Chen, F., Glen, G., Choyke, P., Walther, M.M., Weng, Y., Duan, D.R., Dean, M., Glavac, D., Richards, F.M., Crossey, P.A., Ferguson-Smith, M.A., Le Paslier, D., Churnakov, I., Cohen, D., Chinault, C.A., Maher, E.R., Linehan, W.M., Zbar, B. & Lerman, M.I. (1993) Identification of the von Hippel-Lindau disease tumor suppressor gene. Science, 260, 1317-1320.
15. Mariman, E.C., van-Beersum, S.E., Cremers, C.W., Struycken, P.M. & Ropers, H.H. (1995) Fine mapping of a putatively imprinted gene for familial non-chromaffin paragangliomas to chromosome 11q13. 1: evidence for genetic heterogeneity. Human Genetics, 95, 56-62.
16. Mariman, E.C.M., van Beersum, S.E.C., Cremers, C.W.R.J., Baars, F.M. & Ropers, H.H. (1993) Analysis of a second gene family with hereditary non-chromaffin paragangliomas locates the underlying gene at the proximal region of chromosome 11q. Human Genetics, 91, 357-361.
17. Mulligan, L.M. & Ponder, B.A. (1995) Genetic basis of endocrine disease: multiple endocrine neoplasia type 2. Journal of Clinical Endocrinology and Metabolism, 80, 1989-1995.
18. Mulligan, L.M., Kwok, J.B., Healey, C.S., Elsdon, M.J., Eng, C., Gardner, E., Love, D.R., Mole, S.E., Moore, J.K., Papi, L., Ponder, M.A., Telenius, H., Tunnacliffe, A. & Ponder, B.A.J. (1993) Germline mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. Nature, 363, 458-460.
19. Neumann, H.P., Berger, D.P., Sigmund, G., Blum, U., Schmidt, D., Parmer, R.J., Volk, B. & Kirste, G. (1993) Pheochromocytomas, multiple endocrine neoplasia type 2, and von Hippel-Lindau disease. New England Journal of Medicine, 329, 1531-1538.
20. Neumann, H.P., Eng, C., Mulligan, L.M., Glavac, D., Zauner, I., Ponder, B.A., Crossey, P.A., Maher, E.R. & Brauch, H. (1995) Consequences of direct genetic testing for germline mutations in the clinical management of families with multiple endocrine neoplasia, type II. JAMA, 274, 1149-1151.
21. Parkin, J.L. (1981) Familial multiple glomus tumors and pheochromocytomas. Annals of Otology, Rhinology and Laryngology, 90, 60-63.
22. Pritchett, J.W. (1982) Familial concurrence of carotid body tumor and pheochromocytoma. Cancer, 49, 2578-2579.
23. Sheps, S.G., Jiang, N.S., Klee, G.G. & van Heerden, J.A. (1990) Recent developments in the diagnosis and treatment of pheochromocytoma. Mayo Clinic Proceedings, 65, 88-95.
24. Spinardi, L., Mazars, R. & Tueillet, C. (1991) Protocols for an improved detection of point mutations by SSCP. Nucleic Acids Research, 19, 4009.
25. Van Schothorst, E.M., Jansen, J.C., Bardoel, A., Van Der Mey, A.G.L., James, M.J., Sobol, H., Weissenbach, J., Van Ommen, G.-J.B., Cornelisse, C.J. & Devilee, P. (1996) Confinement of PGL, an imprinted gene causing hereditary paragangliomas, to a 2 cM interval on 11q22-q23 and exclusion of DRD2 and NCAM as candidate genes. European Journal of Human Genetics, 4, 267-273.