Screening for familial paragangliomas

Oral Oncology

Volumn 44, Issue 6, 2008, Pages 532-537

  Myssiorek, David ^a   Ferlito, Alfio ^b   Silver, Carl E ^c   Rodrigo, Juan Pablo ^d,e   Baysal, Bora E ^f   Fagan, Johannes J ^g   Suárez, Carlos ^d,e   Rinaldo, Alessandra ^b  

^a NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF UDINE   (Italy)

^c ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^d HOSPITAL UNIVERSITARIO CENTRAL DE ASTURIAS   (Spain)

^e DEPARTAMENTO DE BIOQUÍMICA Y BIOLOGÍA MOLECULAR   (Spain)

^f UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^g UNIVERSITY OF CAPE TOWN   (South Africa)

Author keywords

Familial paraganglioma screening; Fluorodopamine; Octreotide; Paragangliomas; SDHB; SDHD

Indexed keywords

CANCER DIAGNOSIS; CANCER EPIDEMIOLOGY; CANCER SURGERY; DYSARTHRIA; DYSPHAGIA; DYSPHONIA; FAMILIAL DISEASE; FAMILY; FAMILY HISTORY; GENETIC ANALYSIS; GENETIC SCREENING; GENOTYPE; HUMAN; MULTIPLE CANCER; NUCLEAR MAGNETIC RESONANCE IMAGING; PARAGANGLIOMA; PEDIATRICS; PRIORITY JOURNAL; REVIEW; SCINTISCANNING; SIBLING; TUMOR VOLUME;

EID: 43649099020     PISSN: 13688375     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.oraloncology.2007.06.010     Document Type: Review

References (45)

1. C. Suárez J.P. Rodrigo A. Ferlito R. Cabanillas A.R. Shaha A. Rinaldo Tumours of familial origin in the head and neck Oral Oncol 42 2006 965 978
2. D. Myssiorek A. Rinaldo L. Barnes A. Ferlito Laryngeal paraganglioma: an updated critical review Acta Otolaryngol 124 2004 995 999
3. P.K. Pellitteri A. Rinaldo D. Myssiorek C.G. Jackson P.J. Bradley K.O. Devaney Paragangliomas of the head and neck Oral Oncol 40 2004 563 575
4. W.H. Chase Familial and bilateral tumors of the carotid body J Pathol Bacteriol 36 1933 1 12
5. C. Goekoop Fibrohaemangioma des felsenbeines und des mittelohres bei drei schwestern Acta Otolaryngol 18 1933 153 162
6. L. Barnes Paraganglioma of the larynx. A critical review of the literature ORL J Otorhinolaryngol Relat Spec 53 1991 220 234
7. A. Ferlito L. Barnes B.M. Wenig Identification, classification, treatment, and prognosis of laryngeal paraganglioma. Review of the literature and eight new cases Ann Otol Rhinol Laryngol 103 1994 525 536
8. A. Ferlito L. Barnes A. Rinaldo D.R. Gnepp C.M. Milroy A review of neuroendocrine neoplasms of the larynx: update on diagnosis and treatment J Laryngol Otol 112 1998 827 834
9. A. Ferlito K.O. Devaney A. Rinaldo Neuroendocrine neoplasms of the larynx: advances in identification, understanding, and management Oral Oncol 42 2006 770 788
10. E.E. Lack A.L. Cubilla J.M. Woodruff H.W. Farr Paragangliomas of the head and neck region. A clinical study of 69 patients Cancer 39 1977 397 409
11. E.C.M. Mariman S.E.C. van Beersum C.W.R.J. Cremers P.M. Struycken H.H. Ropers Fine mapping of a putatively imprinted gene for familial non-chromaffin paragangliomas to chromosome 11q13.1: evidence for genetic heterogeneity Hum Genet 95 1995 56 62
12. B.E. Baysal J.E. Willett-Brozick E.C. Lawrence C.M. Drovdlic D.R. Savul D.R. McLeod Prevalence of SDHB , SDHC , and SDHD germline mutations in clinic patients with head and neck paragangliomas J Med Genet 39 2002 178 183
13. Schiavi F, Boedeker CC, Bausch B, Peczkowska M, Gomez CF, Strassburg T, et al. European–American Paraganglioma Study Group. Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene. JAMA 2005; 294 : 2057–63. Erratum in: JAMA 2006; 295 : 628.
14. R.F. Badenhop J.C. Jansen P.A. Fagan R.S. Lord Z.G. Wang W.J. Foster The prevalence of SDHB , SDHC , and SDHD mutations in patients with head and neck paraganglioma and association of mutations with clinical features J Med Genet 41 2004 e99
15. A.G. van der Mey P.D. Maaswinkel-Mooy C.J. Cornelisse P.H. Schmidt J.J. van de Kamp Genomic imprinting in hereditary glomus tumours: evidence for new genetic theory Lancet 2 1989 1291 1294
16. J.W. Bradshaw J.C. Jansen Management of vagal paraganglioma: is operative resection really the best option? Surgery 137 2005 225 228
17. 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. Erratum in: JAMA 2004; 292 : 1686.
18. D.M. Parry F.P. Li L.C. Strong J.A. Carney D. Schottenfeld R.R. Reimer Carotid body tumors in humans: genetics and epidemiology J Natl Cancer Inst 68 1982 573 578
19. J.L. Netterville C.G. Jackson F.R. Miller J.R. Wanamaker M.E. Glasscock Vagal paraganglioma: a review of 46 patients treated during a 20-year period Arch Otolaryngol Head Neck Surg 124 1998 1133 1140
20. M.A. Sevilla Garciá J.L. Llorente Pendás J.P. Rodrigo Tapia G. García Rostán V. Suárez Fente A. Coca Pelaz Head and neck paragangliomas: revision of 89 cases in 73 patients Acta Otorrinolaringol Esp 58 2007 94 100 [in Spanish]
21. S. Grufferman M.W. Gillman L.R. Pasternak C.L. Peterson W.G. Young Jr. Familial carotid body tumors: case report and epidemiologic review Cancer 46 1980 2116 2122
22. B.E. Baysal Genetics of familial paragangliomas: past, present, and future Otolaryngol Clin North Am 34 2001 863 879
23. W. Lawson The neuroendocrine nature of the glomus cells: an experimental, ultrastructural, and histochemical tissue culture study Laryngoscope 90 1980 120 144
24. E.S. Lustrin C. Palestro K. Vaheesan Radiographic evaluation and assessment of paragangliomas Otolaryngol Clin North Am 34 2001 881 906
25. R. van den Berg B.M. Verbist B.J. Mertens A.G. van der Mey M.A. van Buchem Head and neck paragangliomas: improved tumor detection using contrast-enhanced 3D time-of-flight MR angiography as compared with fat-suppressed MR imaging techniques AJNR Am J Neuroradiol 25 2004 863 870
26. D.J. Kwekkeboom H. van Urk B.K. Pauw S.W. Lamberts P.P. Kooij R.P. Hoogma Octreotide scintigraphy for the detection of paragangliomas J Nucl Med 34 1993 873 878
27. 1 1 1Indium pentetreotide scan detection of familial paragangliomas Laryngoscope 108 1998 228 231
28. J.C. Jansen R. van den Berg A. Kuiper A.G. van der Mey A.H. Zwinderman C.J. Cornelisse Estimation of growth rate in patients with head and neck paragangliomas influences the treatment proposal Cancer 88 2000 2811 2816
29. A.G. van der Mey J.C. Jansen J.M. van Baalen Management of carotid body tumors Otolaryngol Clin North Am 34 2001 907 924
30. S. Powell N. Peters C. Harmer Chemodectoma of the head and neck: results of treatment in 84 patients Int J Radiat Oncol Biol Phys 22 1992 919 924
31. W.M. Mendenhall R.W. Hinerman R.J. Amdur S.P. Stringer P.J. Antonelli G.T. Singleton Treatment of paragangliomas with radiation therapy Otolaryngol Clin North Am 34 2001 1007 1020
32. P. Heutink A.G. van der Mey L.A. Sandkuijl A.P. van Gils A. Bardoel G.J. Breedveld A gene subject to genomic imprinting and responsible for hereditary paragangliomas maps to chromosome 11q23-qter Hum Mol Genet 1 1992 7 10
33. B.E. Baysal E.M. van Schothorst J.E. Farr P. Grashof D. Myssiorek W.S. Rubinstein Repositioning the hereditary paraganglioma critical region on chromosome band 11q23 Hum Genet 104 1999 219 225
34. B.E. Baysal R.E. Ferrell J.E. Willett-Brozick E.C. Lawrence D. Myssiorek A. Bosch Mutations in SDHD , a mitochondrial complex II gene, in hereditary paraganglioma Science 287 2000 848 851
35. Astuti D, Latif F, Dallol A, Dahia PL, 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. Erratum in: Am J Hum Genet 2002; 70 : 565.
36. S. Niemann U. Muller Mutations in SDHC cause autosomal dominant paraganglioma, type 3 Nat Genet 26 2000 268 270
37. T.V. McCaffrey F.B. Meyer V.V. Michels D.G. Piepgras M.S. Marion Familial paragangliomas of the head and neck Arch Otolaryngol Head Neck Surg 120 1994 1211 1216
38. A. Bustillo F. Telischi D. Weed F. Civantos S. Angeli A. Serafini Octreotide scintigraphy in the head and neck Laryngoscope 114 2004 434 440
39. C. Le Rest J.B. Bomanji D.C. Costa C.E. Townsend D. Visvikis P.J. Ell Functional imaging of malignant paragangliomas and carcinoid tumours Eur J Nucl Med 28 2001 478 482
40. S. Hoegerle N. Ghanem C. Altehoefer J. Schipper I. Brink E. Moser 18F-DOPA positron emission tomography for the detection of glomus tumours Eur J Nucl Med Mol Imaging 30 2003 689 694
41. J.C. Oosterwijk J.C. Jansen E.M. van Schothorst A.W. Oosterhof P. Devilee E. Bakker First experiences with genetic counselling based on predictive DNA diagnosis in hereditary glomus tumours (paragangliomas) J Med Genet 33 1996 379 383
42. P. Dundee B. Clancy S. Wagstaff R. Briggs Paraganglioma: the role of genetic counselling and radiological screening J Clin Neurosci 12 2005 464 466
43. S. Vanharanta M. Buchta S.R. McWhinney S.K. Virta M. Peczkowska C.D. Morrison Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB -associated heritable paraganglioma Am J Hum Genet 74 2004 153 159
44. A.S. Thirlwall C.M. Bailey A.D. Ramsay M. Wyatt Laryngeal paraganglioma in a five-year-old child – the youngest case ever recorded J Laryngol Otol 113 1999 62 64
45. L. Renard C. Godfraind L.M. Boon M. Vikkula 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 2003 146 151