Rare presentation of familial paraganglioma without evidence of mutation in the SDH, RET and VHL genes: Towards further genetic heterogeneity

Journal of Hypertension

Volumn 27, Issue 1, 2009, Pages 76-82

  Persu, Alexandre ^a   Amyere, Mustapha ^b   Gutierrez Roelens, Ilse ^b   Rustin, Pierre ^c   Sempoux, Christine ^a   Lecouvet, Frédéric E ^a   Van Beers, Bernard E ^a   Horsmans, Yves ^a   De Plaen, Jean François ^a   Marchamoir, ^a   Vikkula, Miikka ^b  

^a CLINIQUES UNIVERSITAIRES SAINT LUC   (Belgium)

^b DE DUVE INSTITUTE   (Belgium)

^c HÔPITAL ROBERT DEBRÉ   (France)

Author keywords

Paraganglioma; Pheochromocytoma; Respiratory chain; RET; SDHD; VHL

Indexed keywords

PROTEIN RET; SUCCINATE DEHYDROGENASE; VON HIPPEL LINDAU PROTEIN; RET PROTEIN, HUMAN; VHL PROTEIN, HUMAN;

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; ENZYME ACTIVITY; FAMILIAL CANCER; FAMILY HISTORY; FEMALE; GENE AMPLIFICATION; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC HETEROGENEITY; GENETIC SCREENING; GENOME IMPRINTING; HEAD AND NECK TUMOR; HETERODUPLEX ANALYSIS; HETEROZYGOSITY LOSS; HUMAN; HUMAN TISSUE; LIVER BIOPSY; LIVER INJURY; MALE; METASTASIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PARAGANGLIOMA; PHEOCHROMOCYTOMA; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; GENETICS; MUTATION; SINGLE NUCLEOTIDE POLYMORPHISM;

HUMANS; MAGNETIC RESONANCE IMAGING; MUTATION; PARAGANGLIOMA; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTO-ONCOGENE PROTEINS C-RET; SUCCINATE DEHYDROGENASE; VON HIPPEL-LINDAU TUMOR SUPPRESSOR PROTEIN;

EID: 58849157966     PISSN: 02636352     EISSN: None     Source Type: Journal    
DOI: 10.1097/HJH.0b013e328317a777     Document Type: Article

References (33)

1. Maher ER, Eng C. The pressure rises: update on the genetics of phaeochromocytoma. Hum Mol Genet 2002; 11:2347-2354.
2. Persu A, Vikkula M. SDH genes: from glomic tumours to pheochromocytoma. Curr Hypertens Rev 2005; 1:267-274.
3. Baysal BE, Ferrell RE, Willett-Brozick JE, Lawrence EC, Myssiorek D, Bosch A, et al. Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. Science 2000; 287:848-851.
4. Niemann S, Muller U. Mutations in SDHC cause autosomal dominant paraganglioma, type 3. Nat Genet 2000; 26:268-270.
5. Astuti D, Latif F, Dallol A, Dahia P, Douglas F, George E, et al. Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma. Am J Hum Genet 2001; 69:49-54.
6. Gimenez-Roqueplo AP, Favier J, Rustin P, Rieubland C, Crespin M, Nau V, et al., COMETE Network. Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas. Cancer Res 2003; 63:5615-5621.
7. Neumann HP, Pawlu C, Peczkowska M, Bausch B, McWhinney SR, Muresan M, et al., European-American Paraganglioma Study Group. Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. JAMA 2004; 292:943-951.
8. Lima J, Feijao T, Ferreira da Silva A, Pereira-Castro I, Fernandez-Ballester G, et al. High frequency of germline succinate dehydrogenase mutations in sporadic cervical paragangliomas in northern Spain: mitochondrial succinate dehydrogenase structure-function relationships and clinical-pathological correlations. J Clin Endocrinol Metab 2007; 92:4853-4864.
9. Persu A, Hamoir M, Gregoire V, Garin P, Duvivier E, Reychler H, et al. High prevalence of SDHB mutations in head and neck paraganglioma in Belgium. J Hypertens 2008; 26:1395-1401.
10. Lemaire M, Persu A, Hainaut P, De Plaen JF. Hereditary paraganglioma. J Intern Med 1999; 246:113-116.
11. Boon LM, Brouillard P, Irrthum A, Karttunen L, Warman ML, Rudolph R, et al. A gene for inherited cutaneous venous anomalies ('glomangiomas') localizes to chromosome 1p21-22. AmJ HumGenet 1999; 65:125-133.
12. Rustin P, Munnich A, Rotig A. Succinate dehydrogenase and human diseases: new insights into a well known enzyme. Eur J Hum Genet 2002; 10:289-291.
13. Rustin P, Chretien D, Bourgeron T, Ge'rard B, Rotig A, Saudubray JM, Munnich A. Biochemical and molecular investigations in respiratory chain de?ciencies. Clin Chim Acta 1994; 228:35-51.
14. Chretien D, Gallego J, Barrientos A, Casademont J, Cardellach F, Munnich A, et al. Biochemical parameters for the diagnosis of mitochondrial respiratory chain de?ciency in humans, and their lack of age-related changes. Biochem J 1998; 329:249-254.
15. Brodkey JA, Brodkey JS,Watridge CB. Metastatic paraganglioma causing spinal cord compression. Spine 1995; 20:367-372.
16. U-King-Im JM, Carroll TA, Morris K. Vertebral metastatic chemodectoma: imaging and therapeutic octreotide. Case report. J Neurosurg Spine 2002; 97:106-109.
17. Malghem J, Vande Berg B, Labaisse MA, Duprez T, Maldague B. The 'halo sign': MRI sign of partial involution of a bone lesion? Rev Im Medicale 1993; 5:S246.
18. Lee JH, Barich F, Karnell LH, Robinson RA, Zhen WK, Gantz BJ, Hoffman HT, American College of Surgeons Commission on Cancer; American Cancer Society. National Cancer Data Base report on malignant paragangliomas of the head and neck. Cancer 2002; 94:730-737.
19. Jaeck D, Paris F, Welsch M, Stephan D, Chenard-Neu MP, Steib A, et al. Primary hepatic pheochromocytoma: a second case. Surgery 1995; 117:586-590.
20. Rimmelin A, Hartheiser M, Gangi A, Welsch M, Jeung MY, Jaeck D, et al. Primary hepatic pheochromocytoma. Eur Radiol 1996; 6:82-85.
21. Reif MC, Hanto DW, Moulton JS, Alspaugh JP, Bejarano P. Primary hepatic pheochromocytoma? Am J Hypertens 1996; 9:1040-1043.
22. Corti B, D'Errico A, Pierangeli F, Fiorentino M, Altimari A, Grigioni WF. Primary paraganglioma strictly con?ned to the liver and mimicking hepatocellular carcinoma: an immunohistochemical and in situ hybridization study. Am J Surg Pathol 2002; 26:945-949.
23. Caceres M, Mosquera LF, Shih JA, O'Leary JP. Paraganglioma of the bile duct. South Med J 2001; 94:515-518.
24. Solymosi L, Ferbert A. A case of spinal paraganglioma. Neuroradiology 1985; 27:217-219.
25. Kim SH, Paik S, Yoon DH, Kim TS. Oncocytoma of the spinal cord. Case report. J Neurosurg Spine 2001; 94:310-312.
26. Payer M, Grob D, Benini A, Varga S, Hodler J, Martin JB. Intraosseous glomus tumor of the thoracic spine. Case illustration. J Neurosurg Spine 2002; 96 (Suppl 1):137.
27. Herwig R, Glodny B, Pauli G. Prognoses of malignancy in cases of pheochromocytomas? Urology 2000; 56:891-892.
28. Coutant R, Pein F, Adamsbaum C, Oberlin O, Dubousset J, Guinebretiere JM, et al. Prognosis of children with malignant pheochromocytoma.Report of 2 cases and review of the literature. Horm Res 1999; 52:145-149.
29. Young AL, Baysal BE, Deb A, Young WF Jr. Familial malignant catecholamine-secreting paraganglioma with prolonged survival associated with mutation in the succinate dehydrogenase B gene. J Cli. Endocrinol Metab 2002; 87:4101-4105.
30. Mena J, Bowen JC, Hollier LH. Metachronous bilateral nonfunctional intercarotid paraganglioma (carotid body tumor) and functional retroperitoneal paraganglioma: report of a case and review of the literature. Surgery 1993; 114:107-111.
31. Gimenez-Roqueplo AP, Favier J, Rustin P, Mourad JJ, Plouin PF, Corvol P, et al. The R22X mutation of the SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II in the mitochondrial respiratory chain and activates the hypoxia pathway. Am J Hum Genet 2001; 69:1186-1197.
32. Neumann HP, Bausch B, McWhinney SR, Bender BU, Gimm O, Franke G, et al., Freiburg-Warsaw-Columbus Pheochromocytoma Study Group. Germ-line mutations in nonsyndromic pheochromocytoma. N Engl J Med 2002; 346:1459-1466.
33. Koch CA, Vortmeyer AO, Huang SC, Alesci S, Zhuang Z, Pacak K. Genetic aspects of pheochromocytoma. Endocr Regul 2001; 35:43-52.