Genetic and clinical investigation of pheochromocytoma: A 22-year experience, from Freiburg, Germany to international effort

Annals of the New York Academy of Sciences

Volumn 1073, Issue , 2006, Pages 122-137

  Bausch, Birke ^a   Boedeker, Carsten C ^a   Berlis, Ansgar ^a   Brink, Ingo ^a   Cybulla, Markus ^a   Walz, Martin K ^b   Januszewicz, Andrzej ^c   Letizia, Claudio ^d   Opocher, Giuseppe ^e   Charis, E N G ^f   Neumann, Hartmut P H ^a,g  

^a UNIVERSITY OF FREIBURG   (Germany)

^b KLINIKEN ESSEN MITTE   (Germany)

^c INSTITUTE OF CARDIOLOGY   (Poland)

^d SAPIENZA UNIVERSITY OF ROME   (Italy)

^e UNIVERSITY OF PADOVA   (Italy)

^f CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^g UNIVERSITY OF FREIBURG   (Germany)

Author keywords

Guidelines for clinical management; MEN; Paraganglioma; PGL; Pheochromocytoma; Registry based research; RET; SDHB; SDHC; SDHD; VHL

Indexed keywords

18 FLUORODOPA; 18 FLUORODOPAMINE; RADIOPHARMACEUTICAL AGENT; VON HIPPEL LINDAU PROTEIN;

CLINICAL ASSESSMENT; COMPUTER ASSISTED TOMOGRAPHY; CONFERENCE PAPER; ECHOGRAPHY; ENDOSCOPIC SURGERY; GENE MUTATION; GENETICS; HUMAN; MOLECULAR GENETICS; NEUROFIBROMATOSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; OUTCOME ASSESSMENT; PARAGANGLIOMA; PHEOCHROMOCYTOMA; POSITRON EMISSION TOMOGRAPHY; PREVALENCE; PROSPECTIVE STUDY; REGISTER; SIPPLE SYNDROME; VON HIPPEL LINDAU DISEASE;

EID: 33845481440     PISSN: 00778923     EISSN: 17496632     Source Type: Book Series    
DOI: 10.1196/annals.1353.013     Document Type: Conference Paper

References (33)

1. MAHER, E.R., L. ISELIUS, J.R. YATES, et al. 1991. Von Hippel-Lindau disease: a genetic study [see comment]. J. Med. Genet. 28: 443-447.
2. NEUMANN, H.P. 1987. Basic criteria for clinical diagnosis and genetic counselling in von Hippel-Lindau syndrome. Vasa 16: 220-226.
3. NEUMANN, H.P. & O.D. WIESTLER. 1991. Clustering of features of von Hippel-Lindau syndrome: evidence for a complex genetic locus [see comment]. Lancet 337: 1052-1054.
4. GLAVAC, D., H.P. NEUMANN, C. WITTKE, et al. 1996. Mutations in the VHL tumor suppressor gene and associated lesions in families with von Hippel-Lindau disease from central Europe. Hum. Genet. 98: 271-280.
5. NEUMANN, H.P., O.A. MULLER, B.A. PONDER, et al. 1989. Early diagnosis of multiple endocrine neoplasia type lia. Klinische Wochenschrift 67: 951-956.
6. NEUMANN, H.P., D.P. BERGER, G. SIGMUND, et al. 1993. Pheochromocytomas, multiple endocrine neoplasia type 2, and von Hippel-Lindau disease [see comment] [erratum appears in N Engl J Med 1994 Dec 1;331(22):1535]. N. Engl. J. Med. 329: 1531-1538.
7. EISENHOFER, G., J.W. LENDERS, W.M. LINEHAN, et al. 1999. Plasma normetanephrine and metanephrine for detecting pheochromocytoma in von Hippel-Lindau disease and multiple endocrine neoplasia type 2. N. Engl. J. Med. 340: 1872-1879.
8. NEUMANN, H.P., B.U. BENDER, M. REINCKE, et al. 1999. Adrenal-sparing surgery for phaeochromocytoma [see comment]. Br. J. Surg. 86: 94-97.
9. GAGNER, M., A. LACROIX & E. BOLTE. 1992. Laparoscopic adrenalectomy in Cushing's syndrome and pheochromocytoma. N. Engl. J. Med. 327: 1033.
10. JANETSCHEK, G., G. FINKENSTEDT, R. GASSER, et al. 1998. Laparoscopic surgery for pheochromocytoma: adrenalectomy, partial resection, excision of paragangliomas. J. Urol. 160: 330-334.
11. WALZ, M.K., K. PEITGEN, H.P. NEUMANN, et al. 2002. Endoscopic treatment of solitary, bilateral, multiple, and recurrent pheochromocytomas and paragangliomas. World J. Surg. 26: 1005-1012.
12. WALZ, M.K., P.F. ALESINA, F.A. WENGER, et al. 2006. Laparoscopic and retroperitoneoscopic treatment of pheochromocytomas and retroperitoneal paragangliomas - Results of 160 tumors in 126 patients. World J. Surg. 30: 899-908.
13. HOEGERLE, S., E. NITZSCHE, C. ALTEHOEFER, et al. 2002. Pheochromocytomas: detection with 18F DOPA whole body PET-initial results. Radiology 222: 507-512.
14. PACAK, K., G. EISENHOFER & D.S. GOLDSTEIN. 2004. Functional imaging of endocrine tumors: role of positron emission tomography. Endocr. Rev. 25: 568-580.
15. HOEGERLE, S., N. GHANEM, C. ALTEHOEFER, et al. 2003. 18F-DOPA positron emission tomography for the detection of glomus tumours. Eur. J. of Nucl. Med. Mol. Imaging 30: 689-694.
16. SEIZINGER, B.R., D.I. SMITH, M.R. FILLING-KATZ, et al. 1991. Genetic flanking markers refine diagnostic criteria and provide insights into the genetics of Von Hippel Lindau disease. Proc. Natl. Acad. Sci. USA 88: 2864-2868.
17. LATIF, F., K. TORY, J. GNARRA, et al. 1993. Identification of the von Hippel-Lindau disease tumor suppressor gene [see comment]. Science 260: 1317-1320.
18. BENDER, B.U., C. ALTEHOFER, A. JANUSZEWICZ, et al. 1997. Functioning thoracic paraganglioma: association with Von Hippel-Lindau syndrome. J. Clin. Endocrinol. Metab. 82: 3356-3360.
19. MULLIGAN, L.M., J.B. KWOK, C.S. HEALEY, et al. 1993. Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. Nature 363: 458-460.
20. MULLIGAN, L.M., C. ENG, C.S. HEALEY, 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.
21. ENG, C., D. CLAYTON, I. SCHUFFENECKER, 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.
22. ENG, C. 1996. Seminars in medicine of the Beth Israel Hospital, Boston. The RET proto-oncogene in multiple endocrine neoplasia type 2 and Hirschsprung's disease. N. Engl. J. Med. 335: 943-951.
23. ENG, C., H. HAMPEL & A. DE LA CHAPELLE. 2001. Genetic testing for cancer predisposition [erratum appears in Annu Rev Med 2002;53:xi]. Ann. Rev. Med. 52: 371-400.
24. BAYSAL, B.E., R.E. FERRELL, J.E. WILLETT-BROZICK, et al. 2000. Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. Science 287: 848-851.
25. ASTUTI, D., F. LATIF, A. DALLOL, et al. 2001. Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma [erratum appears in Am J Hum Genet 2002 Feb;70(2):565]. Am. J. Hum. Genet. 69: 49-54.
26. NIEMANN, S. & U. MULLER. 2000. Mutations in SDHC cause autosomal dominant paraganglioma, type 3. Nat. Genet. 26: 268-270.
27. GIMM, O., M. ARMANIOS, H. DZIEMA, et al. 2000. Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma. Cancer Res. 60: 6822-6825.
28. NEUMANN, H.P., B. BAUSCH, S.R. MCWHINNEY, et al. 2002. Germline mutations in nonsyndromic pheochromocytoma [see comment]. N. Engl. J. Med. 346: 1459-1466.
29. ENG, C., M. KIURU, M.J. FERNANDEZ & L.A. AALTONEN. 2003. A role for mitochondrial enzymes in inherited neoplasia and beyond. Nat. Rev. Cancer 3: 193-202.
30. NEUMANN, H.P., C. PAWLU, M. PECZKOWSKA, et al. 2004. Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations [erratum appears in JAMA. 2004 Oct 13;292(14):1686]. JAMA 292: 943-951.
31. GIMENEZ-ROQUEPLO, A.P., J. FAVIER, P. RUSTIN, et al. 2003. Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas. Cancer Res. 63: 5615-5621.
32. VANHARANTA, S., M. BUCHTA, S.R. MCWHINNEY, et al. 2004. Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma. Am. J. Hum. Genet. 74: 153-159.
33. SCHIAVI, F., C.C. BOEDEKER, B. BAUSCH, et al. 2005. Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene. JAMA 294: 2057-2063.