Paragangliomas of the head and neck region. Review of past and future molecular genetic research;Paragangliome der kopf-hals-region. Ein überblick über die molekulargenetische forschung

HNO

Volumn 52, Issue 1, 2004, Pages 11-17

  Braun, S ^a,b   Riemann, K ^a,b   Pusch, C M ^b   Sotlar, K ^b   Pfister, M ^a   Kupka, S ^a,b  

^a UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^b UNIVERSITY OF TÜBINGEN   (Germany)

Author keywords

LOH; Paraganglioma; SDHD; Tumor suppressor gene

Indexed keywords

MITOCHONDRIAL PROTEIN; SUCCINATE DEHYDROGENASE (UBIQUINONE);

BENIGN TUMOR; CARBON DIOXIDE BLOOD LEVEL; CARCINOGENESIS; CHEMORECEPTOR; CITRIC ACID CYCLE; FAMILIAL DISEASE; GENE MUTATION; HEAD AND NECK TUMOR; HETEROZYGOSITY LOSS; HUMAN; PARAGANGLIOMA; RESPIRATORY CHAIN; REVIEW; SDHD GENE; TUMOR SUPPRESSOR GENE;

CELL TRANSFORMATION, NEOPLASTIC; CITRIC ACID CYCLE; DNA MUTATIONAL ANALYSIS; ELECTRON TRANSPORT; GENES, SUPPRESSOR; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LOSS OF HETEROZYGOSITY; OTORHINOLARYNGOLOGIC NEOPLASMS; PARAGANGLIOMA; PEDIGREE; PROTEIN SUBUNITS; SUCCINATE DEHYDROGENASE;

EID: 0842349044     PISSN: 00176192     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00106-003-0959-y     Document Type: Review

References (36)

1. Ah-See KW, Cooke TG, Pickford IR, Soutar D, Balmain A (1994) An allelotype of squamous carcinoma of the head and neck using microsatellite markers. Cancer Res 54: 1617-1621
2. Astuti D, Douglas F, Lennard TW et al. (2001) Germline SDHD mutation in familial phaeochromocytoma. Lancet 357: 1181-1182
3. Badenhop RF, Cherian S, Lord RS et al. (2001) Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss. Genes Chromosomes Cancer 31: 255-263
4. Baysal BE, Ferrell RE, Willett-Brozick JE et al. (2000) Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. Science 287: 848-851
5. Baysal BE, Rubinstein WS, Taschner PE (2001) Phenotypic dichotomy in mitochondrial complex II genetic disorders. J Mol Med 79: 495-503
6. Baysal BE, Willett-Brozick JE, Lawrence EC et al. (2002) Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas. J Med Gen 39: 178-183
7. Bockmuhl U, Kuchler I, Petersen I (2000) [Improved prognostic assessment of head-neck carcinomas by new genetic markers]. HNO 48: 451-456
8. Bredesen DE (1995) Neural apoptosis. Ann Neurol 38: 839-851
9. Cascon A, Ruiz-Llorente S, Cebrian A et al. (2002) Identification of novel SDHD mutations in patients with phaeochromocytoma and/or paraganglioma. Eur J Hum Gen 10: 457-461
10. De Castro F (1926) Sur la structure et l'innervation de la glande intercarotidienne (glomus caroticum) de l'homme et des mammifères, et sur un nouveau système d'innervation autonome du nerf glossopharyngien. Trab Lab Invest Biol Univ Madrid 25: 365-432
11. Edstrom E, Mahlamaki E, Nord B et al.(2000) Comparative genomic hybridization reveals frequent losses of chromosomes 1p and 3q in pheochromocytomas and abdominal paragangliomas, suggesting a common genetic etiology. Am J Pathol 156: 651-659
12. Eguchi Y, Shimizu S, Tsujimoto Y (1997) Intracellular ATP levels determine cell death fate by apoptosis or necrosis. Cancer Res 57: 1835-1840
13. Gimenez-Roqueplo AP, Favier J, Rustin Pet al. (2001) The R22X mutation of the 5DHD 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 69: 1186-1197
14. Gimm O, Armanios M, Dziema H, Neumann HP, Eng C (2000) Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma. Cancer Res 60: 6822-6825
15. Green DR, Reed JC (1998) Mitochondria and apoptosis. Science 281: 1309-1312
16. Hainaut P (1995) The tumor suppressor protein p53: a receptor to genotoxic stress that controls cell growth and survival. Curr Opin Oncol 7: 76-82
17. Heutink P, van der Mey AG, Sandkuijl LA et al. (1992) A gene subject to genomic imprinting and responsible for hereditary paragangliomas maps to chromosome 11q23-qter. Hum Mol Genet 1: 7-10
18. Hirawake H, Taniwaki M, Tamura A et al. (1999) Characterization of the human SDHD gene encoding the small subunit of cytochrome b (cybS) in mitochondrial succinate-ubiquinone oxidoreductase. Biochim Biophys Acta 1412: 295-300
19. Hoffmann J, Krober SM, Hahn U, Ernemann U, Reinert S (2000) [Polytopic manifestations of paragangliomas. Diagnosis, differential diagnosis and indications for therapy]. Mund Kiefer Gesichtschir 4: 53-56
20. Jin Y, Mertens F, Jin C et al. (1995) Nonrandom chromosome abnormalities in short-term cultured primary squamous cell carcinomas of the head and neck. Cancer Res 55: 3204-3210
21. Lack EE, Cubilla AL, Woodruff JM (1979) Paragangliomas of the head and neck region. A pathologic study of tumors from 71 patients. Hum Pathol 10: 191-218
22. Largey JS, Meltzer SJ, Yin Jet al. (1993) Loss of heterozygosity of p53 in oral cancers demonstrated by the polymerase chain reaction. Cancer 71: 1933-1937
23. Milunsky JM, Maher TA, Michels VV, Milunsky A (2001) Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma. Am J Med Genet 100: 311-314
24. Niemann S, Muller U (2000) Mutations in SDHC cause autosomal dominant paraganglioma, type 3. Nat Genet 26: 268-270
25. Prabhakar NR (2000) Oxygen sensing by the carotid body chemoreceptors. J Appl Physiol 88: 2287-2295
26. Preisler V, Kirchner S, Hagen R (1997) Clinical significance of tumor suppressor gene p53 in head and neck tumors. HNO 45: 659-662
27. Rodrigo JP, Suarez C, Gonzalez MV et al. (2001) Variability of genetic alterations in different sites of head and neck cancer. Laryngoscope 111: 1297-1301
28. 2 homeostasis by hypoxia-inducible factor 1. Annu Rev Cell Dev Biol 15: 551-578
29. Sreekantaiah C, Rao PH, Xu L et al. (1994) Consistent chromosomal losses in head and neck squamous cell carcinoma cell lines. Genes Chromosomes Cancer 11: 29-39
30. Stiller D, Katenkamp D, Kuttner K (1975) Jugular body tumors: hyperplasias or true neoplasms? Light and electron microscopical investigations. Virchows Arch A Pathol Anat Histol 365: 163-177
31. Taschner PE, Jansen JC, Baysal BE et al. (2001) Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene. Genes Chromosomes Cancer 31: 274-281
32. Todd R, Donoff RB, Wong DT (1997) The molecular biology of oral carcinogenesis: toward a tumor progression model. J Oral Maxillofac Surg 55: 613-623
33. Van Dyke DL, Worsham MJ, Benninger MS et al. (1994) Recurrent cytogenetic abnormalities in squamous cell carcinomas of the head and neck region. Genes Chromosomes Cancer 9: 192-206
34. Xiang J, Chao DT, Korsmeyer SJ (1996) BAX-induced cell death may not require interleukin 1 beta-converting enzyme-like proteases. Proc Natl Acad Sci USA 93: 14559-14563
35. Yang J, Liu X, Bhalla K et al. (1997) Prevention of apoptosis by Bcl-2: release of cytochrome c from mitochondria blocked. Science 275: 1129-1132
36. Zhu H, Bunn HF (1999) Oxygen sensing and signaling: impact on the regulation of physiologically important genes. Respir Physiol 115: 239-247