Genetics of pheochromocytoma and paraganglioma syndromes: New advances and future treatment options

Current Opinion in Endocrinology, Diabetes and Obesity

Volumn 20, Issue 3, 2013, Pages 186-191

  Vicha, Ales ^a   Musil, Zdenek ^a,b   Pacak, Karel ^c  

^a UNIVERSITY HOSPITAL MOTOL   (Czech Republic)

^b CHARLES UNIVERSITY   (Czech Republic)

^c EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

Author keywords

Gene; Mutation; Paraganglioma; Pheochromocytoma; Succinate dehydrogenase

Indexed keywords

ALVESPIMYCIN; BEVACIZUMAB; GELDANAMYCIN; GLUCOSE TRANSPORTER 1; HEAT SHOCK PROTEIN 90; HEAT SHOCK PROTEIN 90 INHIBITOR; HISTONE DEACETYLASE INHIBITOR; HYPOXIA INDUCIBLE FACTOR 2ALPHA; MAX PROTEIN; MEMBRANE PROTEIN; NEUROFIBROMIN; PROTEASOME; PROTEIN RET; SUCCINATE DEHYDROGENASE; SUNITINIB; TANESPIMYCIN; TMEM127 PROTEIN; UNCLASSIFIED DRUG; VON HIPPEL LINDAU PROTEIN;

ANTINEOPLASTIC ACTIVITY; CANCER GENETICS; CARCINOGENESIS; FRAMESHIFT MUTATION; GAIN OF FUNCTION MUTATION; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENETIC TRANSCRIPTION; HALF LIFE TIME; HETEROZYGOSITY; HUMAN; MICROARRAY ANALYSIS; MISSENSE MUTATION; NONSENSE MUTATION; PARAGANGLIOMA; PATHOGENESIS; PHEOCHROMOCYTOMA; PROTEIN DEGRADATION; PROTEIN METABOLISM; REVIEW; SOMATIC MUTATION;

ADRENAL GLAND NEOPLASMS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; ISOENZYMES; MUTATION; NEUROFIBROMIN 1; PARAGANGLIOMA; PHEOCHROMOCYTOMA; PROTO-ONCOGENE PROTEINS C-RET; SUCCINATE DEHYDROGENASE; VON HIPPEL-LINDAU TUMOR SUPPRESSOR PROTEIN;

EID: 84879200887     PISSN: 1752296X     EISSN: 17522978     Source Type: Journal    
DOI: 10.1097/MED.0b013e32835fcc45     Document Type: Review

References (57)

1. Pacak K. Phaeochromocytoma: a catecholamine and oxidative stress disorder. Endocr Regul 2011; 45:65-90.
2. Papaspyrou K, Mewes T, Rossmann H, et al. Head and neck paragangliomas: report of 175 patients. Head Neck 2012; 34:632-637.
3. Neumann HP, Bausch B, McWhinney SR, et al. Germ-line mutations in nonsyndromic pheochromocytoma. N Engl J Med 2002; 346:1459- 1466. (Pubitemid 34755714)
4. Erlic Z, Rybicki L, Peczkowska M, et al. Clinical predictors and algorithm for the genetic diagnosis of pheochromocytoma patients. Clin Cancer Res 2009; 15:6378-6385.
5. Gimenez-Roqueplo AP, Dahia PL, Robledo M. An update on the genetics of paraganglioma, pheochromocytoma, and associated hereditary syndromes. Horm Metab Res 2012; 44:328-333.
6. Petri BJ, van Eijck CH, de Herder WW, et al. Phaeochromocytomas and sympathetic paragangliomas. Br J Surg 2009; 96:1381-1392.
7. Comino-Mendez I, Gracia-Aznarez FJ, Schiavi F, et al. Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma. Nat Genet 2011; 43:663-667.
8. Qin Y, Yao L, King EE, et al. Germline mutations in TMEM127 confer susceptibility to pheochromocytoma. Nat Genet 2010; 42:229-233.
9. Zhuang Z, Yang C, Lorenzo F, et al. Somatic HIF2A gain-of-function mutations in paraganglioma with polycythemia. N Engl J Med 2012; 367: 922-930.
10. Welander J, Soderkvist P, Gimm O. Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas. Endocr Relat Cancer 2011; 18:R253-R276.
11. Stratakis CA, Carney JA. The triad of paragangliomas, gastric stromal tumours and pulmonary chondromas (Carney triad), and the dyad of paragangliomas and gastric stromal sarcomas (Carney-Stratakis syndrome): molecular genetics and clinical implications. J Intern Med 2009; 266:43-52.
12. Lorenzo FR, Yang C, Ng Tang Fui M, et al. A novel EPAS1/HIF2A germline mutation in a congenital polycythemia with paraganglioma. J Mol Med (Berl) 2012 [Epub ahead of print]. doi: 10.1007/s00109-012-0967-z.
13. Burnichon N, Vescovo L, Amar L, et al. Integrative genomic analysis reveals somatic mutations in pheochromocytoma and paraganglioma. Hum Mol Genet 2011; 20:3974-3985.
14. Welander J, Larsson C, Backdahl M, et al. Integrative genomics reveals frequent somatic NF1 mutations in sporadic pheochromocytomas. Hum Mol Genet 2012; 21:5406-5416.
15. Burnichon N, Cascon A, Schiavi F, et al. MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma. Clin Cancer Res 2012; 18:2828-2837.
16. Pacak K, Jochmanova L, Prodanov T, et al. A new syndrome of paraganglioma and somatostatinoma associated with polycythemia. J Clin Oncol 2013 (in press).
17. Abermil N, Guillaud-Bataille M, Burnichon N, et al. TMEM127 screening in a large cohort of patients with pheochromocytoma and/or paraganglioma. J Clin Endocrinol Metab 2012; 97:E805-E809.
18. Yao L, Schiavi F, Cascon A, et al. Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas. JAMA 2010; 304:2611-2619.
19. Neumann HP, Sullivan M, Winter A, et al. Germline mutations of the TMEM127 gene in patients with paraganglioma of head and neck and extraadrenal abdominal sites. J Clin Endocrinol Metab 2011; 96:E1279-E1282.
20. Burnichon N, Lepoutre-Lussey C, Laffaire J, et al. A novel TMEM127 mutation in a patient with familial bilateral pheochromocytoma. Eur J Endocrinol 2011; 164:141-145.
21. Cascón A, Robledo M. MAX and MYC: a heritable breakup. Cancer Res 2012; 72:3119-3124.
22. Grandori C, Cowley SM, James LP, et al. The Myc/Max/Mad network and the transcriptional control of cell behavior. Annu Rev Cell Dev Biol 2000; 16:653-699. (Pubitemid 32037520)
23. Gallant P. Drosophila Myc. Adv Cancer Res 2009; 103:111-144.
24. Favier J, Buffet A, Gimenez-Roqueplo AP. HIF2A mutations in paraganglioma with polycythemia. N Engl J Med 2012; 367:2161; author reply 2161-2162.
25. Semenza GL. Defining the role of hypoxia-inducible factor 1 in cancer biology and therapeutics. Oncogene 2010; 29:625-634.
26. Semenza GL. Hypoxia-inducible factors: mediators of cancer progression and targets for cancer therapy. Trends Pharmacol Sci 2012; 33:207-214.
27. Kaelin WG Jr, Ratcliffe PJ. Oxygen sensing by metazoans: the central role of the HIF hydroxylase pathway. Mol Cell 2008; 30:393-402. (Pubitemid 351681994)
28. Favier J, Gimenez-Roqueplo AP. Pheochromocytomas: the (pseudo)-hypoxia hypothesis. Best Pract Res Clin Endocrinol Metab 2010; 24:957-968.
29. Maher ER, Neumann HP, Richard S. Von Hippel-Lindau disease: a clinical and scientific review. Eur J Hum Genet 2011; 19:617-623.
30. Percy MJ, Furlow PW, Lucas GS, et al. A gain-of-function mutation in the HIF2A gene in familial erythrocytosis. N Engl J Med 2008; 358:162-168.
31. Prchal JT, Gordeuk VR. The HIF2A gene in familial erythrocytosis. N Engl J Med 2008; 358:1966; author reply 1966-1967. (Pubitemid 351620125)
32. Dahia PL, Ross KN, Wright ME, et al. A HIF1alpha regulatory loop links hypoxia and mitochondrial signals in pheochromocytomas. PLoS Genet 2005; 1:72-80.
33. Lopez-Jimenez E, Gomez-Lopez G, Leandro-Garcia LJ, et al. Research resource: transcriptional profiling reveals different pseudohypoxic signatures in SDHB and VHL-related pheochromocytomas. Mol Endocrinol 2010; 24:2382-2391.
34. Galan SR, Kann PH. Genetics and molecular pathogenesis of pheochromocytoma and paraganglioma. Clin Endocrinol (Oxf) 2013; 78:165-175.
35. Shah U, Giubellino A, Pacak K. Pheochromocytoma: implications in tumorigenesis and the actual management. Minerva Endocrinol 2012; 37:141- 156.
36. Dann CE 3rd, Bruick RK. Dioxygenases as O2-dependent regulators of the hypoxic response pathway. Biochem Biophys Res Commun 2005; 338: 639-647. (Pubitemid 41540611)
37. King KS, Prodanov T, Kantorovich V, et al. Metastatic pheochromocytoma/ paraganglioma related to primary tumor development in childhood or adolescence: significant link to SDHB mutations. J Clin Oncol 2011; 29:4137- 4142.
38. Jiang S, Dahia PL. Minireview: the busy road to pheochromocytomas and paragangliomas has a new member TMEM127. Endocrinology 2011; 152: 2133-2140.
39. Powers JF, Evinger MJ, Zhi J, et al. Pheochromocytomas in Nf1 knockout mice express a neural progenitor gene expression profile. Neuroscience 2007; 147:928-937. (Pubitemid 47102544)
40. Yeh IT, Lenci RE, Qin Y, et al. A germline mutation of the KIF1B beta gene on 1p36 in a family with neural and nonneural tumors. Hum Genet 2008; 124:279-285.
41. Zbuk KM, Patocs A, Shealy A, et al. Germline mutations in PTEN and SDHC in a woman with epithelial thyroid cancer and carotid paraganglioma. Nat Clin Pract Oncol 2007; 4:608-612. (Pubitemid 47534760)
42. Fishbein L, Nathanson KL. Pheochromocytoma and paraganglioma: understanding the complexities of the genetic background. Cancer Genet 2012; 205:1-11.
43. Johannessen CM, Johnson BW, Williams SM, et al. TORC1 is essential for NF1-associated malignancies. Curr Biol 2008; 18:56-62.
44. Yang C, Matro JC, Huntoon KM, et al. Missense mutations in the human SDHB gene increase protein degradation without altering intrinsic enzymatic function. FASEB J 2012; 26:4506-4516.
45. Choi HJ, Song BJ, Gong YD, et al. Rapid degradation of hypoxia-inducible factor-1alpha by KRH102053, a new activator of prolyl hydroxylase 2. Br J Pharmacol 2008; 154:114-125. (Pubitemid 351620399)
46. Nepal M, Gong YD, Park YR, et al. An activator of PHD2 KRH102140, decreases angiogenesis via inhibition of HIF-1alpha. Cell Biochem Funct 2011; 29:126-134.
47. Liu YV, Baek JH, Zhang H, et al. RACK1 competes with HSP90 for binding to HIF-1alpha and is required for O(2)-independent and HSP90 inhibitor-induced degradation of HIF-1alpha. Mol Cell 2007; 25:207-217. (Pubitemid 46109612)
48. Mahalingam D, Swords R, Carew JS, et al. Targeting HSP90 for cancer therapy. Br J Cancer 2009; 100:1523-1529.
49. Den RB, Lu B. Heat shock protein 90 inhibition: rationale and clinical potential. Ther Adv Med Oncol 2012; 4:211-218.
50. Isaacs JS, Jung YJ, Mimnaugh EG, et al. Hsp90 regulates a von Hippel Lindauindependent hypoxia-inducible factor-1 alpha-degradative pathway. J Biol Chem 2002; 277:29936-29944.
51. Chan DA, Sutphin PD, Nguyen P, et al. Targeting GLUT1 and the Warburg effect in renal cell carcinoma by chemical synthetic lethality. Sci Transl Med 2011; 3:94ra70.
52. Liu Y, Cao Y, Zhang W, et al. A small-molecule inhibitor of glucose transporter 1 downregulates glycolysis, induces cell-cycle arrest, and inhibits cancer cell growth in vitro and in vivo. Mol Cancer Ther 2012; 11:1672- 1682.
53. Favier J, Igaz P, Burnichon N, et al. Rationale for antiangiogenic therapy in pheochromocytoma and paraganglioma. Endocr Pathol 2012; 23:34- 42.
54. Semenza GL. Evaluation of HIF-1 inhibitors as anticancer agents. Drug Discov Today 2007; 12:853-859. (Pubitemid 47554628)
55. Welsh S, Williams R, Kirkpatrick L, et al. Antitumor activity and pharmacodynamic properties of PX-478, an inhibitor of hypoxia-inducible factor-1alpha. Mol Cancer Ther 2004; 3:233-244. (Pubitemid 39193698)
56. Welsh SJ, Williams RR, Birmingham A, et al. The thioredoxin redox inhibitors 1-methylpropyl 2-imidazolyl disulfide and pleurotin inhibit hypoxia-induced factor 1alpha and vascular endothelial growth factor formation. Mol Cancer Ther 2003; 2:235-243.
57. Nolting S, Garcia E, Alusi G, et al. Combined blockade of signalling pathways shows marked antitumour potential in phaeochromocytoma cell lines. J Mol Endocrinol 2012; 49:79-96.