Pheochromocytoma and functional paraganglioma syndrome: no longer the 10% tumor - PubMed (original) (raw)
Review
. 2005 Mar 1;89(3):193-201.
doi: 10.1002/jso.20177.
Affiliations
- PMID: 15719371
- DOI: 10.1002/jso.20177
Review
Pheochromocytoma and functional paraganglioma syndrome: no longer the 10% tumor
Elisabeth Edström Elder et al. J Surg Oncol. 2005.
Abstract
Pheochromocytomas and abdominal paragangliomas are catecholamine-producing tumors of the sympathetic nervous system, while head and neck paragangliomas are non-secreting tumors of parasympathetic origin. Recent developments in clinical and molecular research on these tumor forms have significantly clarified their genetic backgrounds and challenged the view of "pheochromocytoma as the 10% rule tumor." Firstly, a larger proportion of these tumors are today discovered in normotensive patients during imaging carried out for other reasons than suspicion of pheochromocytoma. Secondly, although the differential diagnosis between malignant and benign tumors remains a challenge, the risk of malignancy well exceeds the classical 10% in patients with extra-adrenal disease, and/or carriers of germ-line SDHB mutations. Finally, up to a third of patients carry a germ-line mutation in a gene predisposing to pheochromocytoma and/or paraganglioma. Identification of a constitutional mutation in RET, VHL, SDHD, or SDHB has implications for clinical screening and follow-up for both the patient and for relatives at risk who can be identified by screening for the same mutation. Genetic testing in apparently sporadic cases is therefore regarded as beneficial, especially in patients diagnosed before 50 years of age, and in patients with bilateral, multifocal, malignant and/or extra-adrenal disease.
(c) 2005 Wiley-Liss, Inc.
Similar articles
- Genetic testing in pheochromocytoma or functional paraganglioma.
Amar L, Bertherat J, Baudin E, Ajzenberg C, Bressac-de Paillerets B, Chabre O, Chamontin B, Delemer B, Giraud S, Murat A, Niccoli-Sire P, Richard S, Rohmer V, Sadoul JL, Strompf L, Schlumberger M, Bertagna X, Plouin PF, Jeunemaitre X, Gimenez-Roqueplo AP. Amar L, et al. J Clin Oncol. 2005 Dec 1;23(34):8812-8. doi: 10.1200/JCO.2005.03.1484. J Clin Oncol. 2005. PMID: 16314641 - Pheochromocytoma: the expanding genetic differential diagnosis.
Bryant J, Farmer J, Kessler LJ, Townsend RR, Nathanson KL. Bryant J, et al. J Natl Cancer Inst. 2003 Aug 20;95(16):1196-204. doi: 10.1093/jnci/djg024. J Natl Cancer Inst. 2003. PMID: 12928344 Review. - Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations.
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; European-American Paraganglioma Study Group. Neumann HP, et al. JAMA. 2004 Aug 25;292(8):943-51. doi: 10.1001/jama.292.8.943. JAMA. 2004. PMID: 15328326 - Pheochromocytoma in von Hippel-Lindau disease and neurofibromatosis type 1.
Opocher G, Conton P, Schiavi F, Macino B, Mantero F. Opocher G, et al. Fam Cancer. 2005;4(1):13-6. doi: 10.1007/s10689-004-6128-y. Fam Cancer. 2005. PMID: 15883705 Review. - Candidate gene mutation analysis in bilateral adrenal pheochromocytoma and sympathetic paraganglioma.
Korpershoek E, Petri BJ, van Nederveen FH, Dinjens WN, Verhofstad AA, de Herder WW, Schmid S, Perren A, Komminoth P, de Krijger RR. Korpershoek E, et al. Endocr Relat Cancer. 2007 Jun;14(2):453-62. doi: 10.1677/ERC-06-0044. Endocr Relat Cancer. 2007. PMID: 17639058
Cited by
- Clinical and Genetic Correlation in Neurocristopathies: Bridging a Precision Medicine Gap.
Chatzi D, Kyriakoudi SA, Dermitzakis I, Manthou ME, Meditskou S, Theotokis P. Chatzi D, et al. J Clin Med. 2024 Apr 11;13(8):2223. doi: 10.3390/jcm13082223. J Clin Med. 2024. PMID: 38673496 Free PMC article. Review. - Investigating the role of somatic sequencing platforms for phaeochromocytoma and paraganglioma in a large UK cohort.
Winzeler B, Tufton N, S Lim E, Challis BG, Park SM, Izatt L, Carroll PV, Velusamy A, Hulse T, Whitelaw BC, Martin E, Rodger F, Maranian M, Clark GR, A Akker S, Maher ER, Casey RT. Winzeler B, et al. Clin Endocrinol (Oxf). 2022 Oct;97(4):448-459. doi: 10.1111/cen.14639. Epub 2021 Dec 6. Clin Endocrinol (Oxf). 2022. PMID: 34870338 Free PMC article. Review. - Precision Medicine in Phaeochromocytoma and Paraganglioma.
Winzeler B, Challis BG, Casey RT. Winzeler B, et al. J Pers Med. 2021 Nov 22;11(11):1239. doi: 10.3390/jpm11111239. J Pers Med. 2021. PMID: 34834591 Free PMC article. Review. - Asymptomatic paraganglioma of urinary bladder.
Chen TL, Jiang YH, Hsu YH. Chen TL, et al. Tzu Chi Med J. 2021 Apr 5;33(4):419-420. doi: 10.4103/tcmj.tcmj_292_20. eCollection 2021 Oct-Dec. Tzu Chi Med J. 2021. PMID: 34760641 Free PMC article. No abstract available. - Pancreatic paraganglioma diagnosed by endoscopic ultrasound-guided fine needle aspiration: A case report and review of literature.
Lanke G, Stewart JM, Lee JH. Lanke G, et al. World J Gastroenterol. 2021 Oct 7;27(37):6322-6331. doi: 10.3748/wjg.v27.i37.6322. World J Gastroenterol. 2021. PMID: 34712035 Free PMC article. Review.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Medical