Cervical paragangliomas: Is SDH genetic analysis systematically required?

European Archives of Oto-Rhino-Laryngology

Volumn 265, Issue 5, 2008, Pages 557-563

  Fakhry, Nicolas ^a   Niccoli Sire, Patricia ^a,b   Barlier Seti, Anne ^c   Giorgi, Roch ^a   Giovanni, Antoine ^a   Zanaret, Michel ^a  

^a TIMONE HOSPITAL   (France)

^b GTE PGLnet Network   (France)

^c ASSISTANCE PUBLIQUE HÔPITAUX DE MARSEILLE   (France)

Author keywords

Genetic; Head and neck tumor; Hereditary paraganglioma; Sporadic paraganglioma; Succinate dehydrogenase

Indexed keywords

ADULT; AGED; ARTICLE; CAROTID BODY; CERVICAL PARAGANGLIOMA; CLINICAL ARTICLE; COMPARATIVE STUDY; CONTROLLED STUDY; DNA DETERMINATION; FAMILY HISTORY; FAMILY STUDY; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; HEAD AND NECK TUMOR; HUMAN; HUMAN CELL; MALE; ONSET AGE; PARAGANGLIOMA; PREVALENCE; PRIORITY JOURNAL; SUCCINATE DEHYDROGENASE B GENE; SUCCINATE DEHYDROGENASE C GENE; SUCCINATE DEHYDROGENASE D GENE; TUMOR LOCALIZATION;

ADOLESCENT; ADULT; AGED; AORTIC BODIES; CAROTID BODY TUMOR; FEMALE; GENETIC SCREENING; GERM-LINE MUTATION; HEAD AND NECK NEOPLASMS; HUMANS; MALE; MEMBRANE PROTEINS; MIDDLE AGED; PARAGANGLIOMA, EXTRA-ADRENAL; SUCCINATE DEHYDROGENASE;

EID: 43349108023     PISSN: 09374477     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00405-007-0517-4     Document Type: Article

References (21)

1. Baysal BE, Farr JE, Rubinstein WS, Galus RA, Johnson KA, Aston CE, Myers EN, Johnson JT, Carrau R, Kirkpatrick SJ, Myssiorek D, Singh D, Saha S, Gollin SM, Evans GA, James MR, Richard CW 3rd (1997) Fine mapping of an imprinted gene for familial nonchromaffin paragangliomas, on chromosome 11q23. Am J Hum Genet 60:121-132
2. Jimenez C, Cote G, Arnold A, Gagel RF (2006) Review: should patients with apparently sporadic pheochromocytomas or paragangliomas be screened for hereditary syndromes? J Clin Endocrinol Metab 91:2851-2858
3. Paris J, Facon F, Thomassin JM, Zanaret M (2006) Cervical paragangliomas: neurovascular surgical risk and therapeutic management. Eur Arch Otorhinolaryngol 263:860-865
4. Marchesi M, Biffoni M, Jaus MO, Nobili Benedetti R, Tromba L, Berni A, Campana FP (1999) Surgical treatment of paragangliomas of the carotid body and other rare localisations. J Cardiovasc Surg (Torino) 40:691-694
5. Mendenhall WM, Million RR, Parsons JT, Isaacs JH Jr, Cassisi NJ (1986) Chemodectoma of the carotid body and ganglion nodosum treated with radiation therapy. Int J Radiat Oncol Biol Phys 12:2175-2178
6. Neumann HP, Pawlu C, Peczkowska M, Bausch B, McWhinney SR, Muresan M, Buchta M, Franke G, Klisch J, Bley TA, Hoegerle S, Boedeker CC, Opocher G, Schipper J, Januszewicz A, Eng C (2004) Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. JAMA 292:943-951
7. Pawlu C, Bausch B, Neumann HP (2005) Mutations of the SDHB and SDHD genes. Fam Cancer 4:49-54
8. Baysal BE, Willett-Brozick JE, Lawrence EC, Drovdlic CM, Savul SA, McLeod DR, Yee HA, Brackmann DE, Slattery WH 3rd, Myers EN, Ferrell RE, Rubinstein WS (2002) Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas. J Med Genet 39:178-183
9. Lee SC, Chionh SB, Chong SM, Taschner PE (2003) Hereditary paraganglioma due to the SDHD M1I mutation in a second Chinese family: a founder effect? Laryngoscope 113:1055-1058
10. Neumann HP, Bausch B, McWhinney SR, Bender BU, Gimm O, Franke G, Schipper J, Klisch J, Altehoefer C, Zerres K, Januszewicz A, Eng C, Smith WM, Munk R, Manz T, Glaesker S, Apel TW, Treier M, Reineke M, Walz MK, Hoang-Vu C, Brauckhoff M, Klein-Franke A, Klose P, Schmidt H, Maier-Woelfle M, Peczkowska M, Szmigielski C (2002) Germ-line mutations in nonsyndromic pheochromocytoma. N Engl J Med 346:1459-1466
11. Dannenberg H, Dinjens WN, Abbou M, Van Urk H, Pauw BK, Mouwen D, Mooi WJ, de Krijger RR (2002) Frequent germ-line succinate dehydrogenase subunit D gene mutations in patients with apparently sporadic parasympathetic paraganglioma. Clin Cancer Res 8:2061-2066
12. Drovdlic CM, Myers EN, Peters JA, Baysal BE, Brackmann DE, Slattery WH 3rd, Rubinstein WS (2001) Proportion of heritable paraganglioma cases and associated clinical characteristics. Laryngoscope 111:1822-1827
13. Benn DE, Gimenez-Roqueplo AP, Reilly JR, Bertherat J, Burgess J, Byth K, Croxson M, Dahia PL, Elston M, Gimm O, Henley D, Herman P, Murday V, Niccoli-Sire P, Pasieka JL, Rohmer V, Tucker K, Jeunemaitre X, Marsh DJ, Plouin PF, Robinson BG (2006) Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes. J Clin Endocrinol Metab 91:827-836
14. Benn DE, Robinson BG (2006) Genetic basis of phaeochromocytoma and paraganglioma. Best Pract Res Clin Endocrinol Metab 20:435-450
15. Favier J, Briere JJ, Strompf L, Amar L, Filali M, Jeunemaitre X, Rustin P, Gimenez-Roqueplo AP (2005) Hereditary paraganglioma/pheochromocytoma and inherited succinate dehydrogenase deficiency. Horm Res 63:171-179
16. Schiavi F, Boedeker CC, Bausch B, Peczkowska M, Gomez CF, Strassburg T, Pawlu C, Buchta M, Salzmann M, Hoffmann MM, Berlis A, Brink I, Cybulla M, Muresan M, Walter MA, Forrer F, Valimaki M, Kawecki A, Szutkowski Z, Schipper J, Walz MK, Pigny P, Bauters C, Willet-Brozick JE, Baysal BE, Januszewicz A, Eng C, Opocher G, Neumann HP (2005) Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene. JAMA 294:2057-2063
17. Timmers HJLM, Kozupa A, Eisenhofer G, Raygada M, Adams KT, Solis D, Lenders JWM, Pacak K (2007) Clinical presentations, biochemical phenotypes, and genotype-phenotype correlations in patients with succinate dehydrogenase subunit B-associated pheochromocytomas and paragangliomas. J Clin Endocrinol Metab 92:779-785
18. Amar L, Bertherat J, Baudin E, Ajzenberg C, Bressac de Paiilerets B, Chabre O, Chamontin B, Delemmer B (2005) Genetic testing in pheochromocytoma or functional paraganglioma. J Clin Oncol 23:8812-8818
19. Mhatre AN, Li Y, Feng L, Gasperin A, Lalwani AK (2004) SDHB, SDHC, and SDHD mutation screen in sporadic and familial head and neck paragangliomas. Clin Genet 66:461-466
20. Renard L, Godfraind C, Boon LM, Vikkula M (2003) A novel mutation in the SDHD gene in a family with inherited paragangliomas-implications of genetic diagnosis for follow up and treatment. Head Neck 25:146-151
21. Havekes B, Corssmit EPM, Jansen JC, Van der Mey AGL, Vriends AHJT, Romijn JA (2007) Malignant paragangliomas associated mutations in the succinate dehydrogenase D gene. J Clin Endocrinol Metab 92:1245-1248