Integrative genetic characterization and phenotype correlations in pheochromocytoma and paraganglioma tumours

PLoS ONE

Volumn 9, Issue 1, 2014, Pages

  Crona, Joakim ^a   Nordling, Margareta ^b   Maharjan, Rajani ^a   Granberg, Dan ^a   Stålberg, Peter ^a   Hellman, Per ^a   Björklund, Peyman ^a  

^a UPPSALA UNIVERSITY   (Sweden)

^b SAHLGRENSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

ADRENALIN; DNA; NORADRENALIN;

ADOLESCENT; ADULT; AGED; ARTICLE; CARCINOGENESIS; COHORT ANALYSIS; CONTROLLED STUDY; EPAS1 GENE; FEMALE; GENE; GENE SEQUENCE; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY LOSS; HETEROZYGOTE; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; MIDDLE AGED; NF1 GENE; NUCLEOTIDE SEQUENCE; ONCOGENE H RAS; PARAGANGLIOMA; PHEOCHROMOCYTOMA; RET GENE; RETROSPECTIVE STUDY; SDHB GENE; SOMATIC MUTATION; TUMOR RECURRENCE; VHL GENE; YOUNG ADULT;

ADRENAL GLAND NEOPLASMS; BASE SEQUENCE; COHORT STUDIES; GENES, NEOPLASM; GENETIC TESTING; GERM-LINE MUTATION; HUMANS; LOSS OF HETEROZYGOSITY; MOLECULAR SEQUENCE DATA; PARAGANGLIOMA; PHENOTYPE; PHEOCHROMOCYTOMA; POLYMORPHISM, SINGLE NUCLEOTIDE; RETROSPECTIVE STUDIES; SEQUENCE ANALYSIS, DNA; SWEDEN;

EID: 84899523491     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0086756     Document Type: Article

References (48)

1. Mannelli M, Castellano M, Schiavi F, Filetti S, Giacche M, et al. (2009) Clinically guided genetic screening in a large cohort of italian patients with pheochromocytomas and/or functional or nonfunctional paragangliomas. J Clin Endocrinol Metab 94: 1541-1547.
2. Amar L, Servais A, Gimenez-Roqueplo AP, Zinzindohoue F, Chatellier G, et al. (2005) Year of diagnosis, features at presentation, and risk of recurrence in patients with pheochromocytoma or secreting paraganglioma. J Clin Endocrinol Metab 90: 2110-2116. Epub 2005 Jan 2111.
3. Darr R, Lenders JW, Hofbauer LC, Naumann B, Bornstein SR, et al. (2012) Pheochromocytoma - update on disease management. Ther Adv Endocrinol Metab 3: 11-26. doi: 10.1177/2042018812437356.
4. Scott HW, Jr., Halter SA (1984) Oncologic aspects of pheochromocytoma: the importance of follow-up. Surgery 96: 1061-1066.
5. Van Slycke S, Caiazzo R, Pigny P, Cardot-Bauters C, Arnalsteen L, et al. (2009) Local-regional recurrence of sporadic or syndromic abdominal extra-adrenal paraganglioma: incidence, characteristics, and outcome. Surgery 146: 986-992. doi: 910.1016/j.surg.2009.1010.1055.
6. Agarwal A, Mehrotra PK, Jain M, Gupta SK, Mishra A, et al. (2010) Size of the tumor and pheochromocytoma of the adrenal gland scaled score (PASS): can they predict malignancy? World J Surg 34: 3022-3028. doi: 3010.1007/s00268- 00010-00744-00265.
7. Thompson LD (2002) Pheochromocytoma of the Adrenal gland Scaled Score (PASS) to separate benign from malignant neoplasms: a clinicopathologic and immunophenotypic study of 100 cases. Am J Surg Pathol 26: 551-566.
8. Burnichon N, Vescovo L, Amar L, Libe R, de Reynies A, et al. (2011) Integrative genomic analysis reveals somatic mutations in pheochromocytoma and paraganglioma. Hum Mol Genet 20: 3974-3985.
9. Baysal BE, Ferrell RE, Willett-Brozick JE, Lawrence EC, Myssiorek D, et al. (2000) Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. Science 287: 848-851. (Pubitemid 30084326)
10. Hao HX, Khalimonchuk O, Schraders M, Dephoure N, Bayley JP, et al. (2009) SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma. Science 325: 1139-1142. Epub 2009 Jul 1123.
11. Qin Y, Yao L, King EE, Buddavarapu K, Lenci RE, et al. (2010) Germline mutations in TMEM127 confer susceptibility to pheochromocytoma. Nat Genet 42: 229-233. Epub 2010 Feb 2014.
12. Comino-Mendez I, Gracia-Aznarez FJ, Schiavi F, Landa I, Leandro-Garcia LJ, et al. (2011) Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma. Nat Genet 43: 663-667.
13. Astuti D, Latif F, Dallol A, Dahia PL, Douglas F, et al. (2001) Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma. Am J Hum Genet 69: 49-54. Epub 2001 Jun 2012.
14. Niemann S, Muller U (2000) Mutations in SDHC cause autosomal dominant paraganglioma, type 3. Nat Genet 26: 268-270.
15. Welander J, Larsson C, Backdahl M, Hareni N, Sivler T, et al. (2012) Integrative genomics reveals frequent somatic NF1 mutations in sporadic pheochromocytomas. Hum Mol Genet 24: 24.
16. Zhuang Z, Yang C, Lorenzo F, Merino M, Fojo T, et al. (2012) Somatic HIF2A gain-of-function mutations in paraganglioma with polycythemia. N Engl J Med 367: 922-930. doi: 910.1056/NEJMoa1205119.
17. Favier J, Buffet A, Gimenez-Roqueplo AP (2012) HIF2A mutations in paraganglioma with polycythemia. N Engl J Med 367: 2161; author reply 2161-2162. doi: 2110.1056/NEJMc1211953#SA1211951.
18. Burnichon N, Buffet A, Parfait B, Letouze E, Laurendeau I, et al. (2012) Somatic NF1 Inactivation is a Frequent Event in Sporadic Pheochromocytoma. Hum Mol Genet 6: 6.
19. Ladroue C, Carcenac R, Leporrier M, Gad S, Le Hello C, et al. (2008) PHD2 mutation and congenital erythrocytosis with paraganglioma. N Engl J Med 359: 2685-2692.
20. Crona J, Delgado Verdugo A, Maharjan R, Stålberg P, Granberg D, et al. (2013) Somatic Mutations in H-RAS in Sporadic Pheochromocytoma and Paraganglioma Identified by Exome Sequencing. Journal of Clinical Endocrinology & Metabolism.
21. Amar L, Baudin E, Burnichon N, Peyrard S, Silvera S, et al. (2007) Succinate dehydrogenase B gene mutations predict survival in patients with malignant pheochromocytomas or paragangliomas. J Clin Endocrinol Metab 92: 3822-3828. Epub 2007 Jul 3824.
22. Buffet A, Venisse A, Nau V, Roncellin I, Boccio V, et al. (2012) A Decade (2001-2010) of Genetic Testing for Pheochromocytoma and Paraganglioma. Horm Metab Res 19: 19.
23. Weber A, Hoffmann MM, Neumann HP, Erlic Z (2012) Somatic Mutation Analysis of the SDHB, SDHC, SDHD, and RET Genes in the Clinical Assessment of Sporadic and Hereditary Pheochromocytoma. Horm Cancer 3: 187-192. Epub 2012 May 2010.
24. Crona J, Maharjan R, Delgado Verdugo A, Stalberg P, Granberg D, et al. (2013) MAX mutations status in Swedish patients with pheochromocytoma and paraganglioma tumours. Fam Cancer 7: 7.
25. Akerstrom T, Crona J, Delgado Verdugo A, Starker LF, Cupisti K, et al. (2012) Comprehensive re-sequencing of adrenal aldosterone producing lesions reveal three somatic mutations near the KCNJ5 potassium channel selectivity filter. PLoS One 7: e41926. Epub 42012 Jul 41927.
26. Welander J, Soderkvist P, Gimm O (2011) Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas. Endocr Relat Cancer 18: R253-276.
27. Forbes SA, Bindal N, Bamford S, Cole C, Kok CY, et al. (2011) COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer. Nucleic Acids Res 39: D945-950.
28. Stenson PD, Ball EV, Mort M, Phillips AD, Shiel JA, et al. (2003) Human Gene Mutation Database (HGMD): 2003 update. Hum Mutat 21: 577-581. (Pubitemid 36667346)
29. Kumar P, Henikoff S, Ng PC (2009) Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 4: 1073-1081. Epub 2009 Jun 1025.
30. Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, et al. (2010) A method and server for predicting damaging missense mutations. Nat Methods 7: 248-249.
31. Arkblad EL, Darin N, Berg K, Kimber E, Brandberg G, et al. (2006) Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular atrophy. Neuromuscul Disord 16: 830-838. Epub 2006 Oct 2017.
32. Banck MS, Kanwar R, Kulkarni AA, Boora GK, Metge F, et al. (2013) The genomic landscape of small intestine neuroendocrine tumors. J Clin Invest 15.
33. Neumann HP, Bausch B, McWhinney SR, Bender BU, Gimm O, et al. (2002) Germ-line mutations in nonsyndromic pheochromocytoma. N Engl J Med 346: 1459-1466. (Pubitemid 34755714)
34. Yang C, Sun MG, Matro J, Huynh TT, Rahimpour S, et al. (2013) Novel HIF2A mutations disrupt oxygen sensing leading to polycythemia, paragangliomas and somatostatinomas. Blood.
35. Crona J, Delgado Verdugo A, Granberg D, Welin S, Stalberg P, et al. (2013) Next generation sequencing in genetic screening of pheochromocytoma and paraganglioma. Endocrine Connections.
36. Panizza E, Ercolino T, Mori L, Rapizzi E, Castellano M, et al. (2013) Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome. Hum Mol Genet 22: 804-815. doi: 810.1093/hmg/dds1487. Epub 2012 Nov 1021.
37. Bond J, Gale DP, Connor T, Adams S, de Boer J, et al. (2011) Dysregulation of the HIF pathway due to VHL mutation causing severe erythrocytosis and pulmonary arterial hypertension. Blood 117: 3699-3701. doi: 3610.1182/blood-2010-3612-327569.
38. Vaclavikova E, Dvorakova S, Sykorova V, Bilek R, Dvorakova K, et al. (2009) RET mutation Tyr791Phe: the genetic cause of different diseases derived from neural crest. Endocrine 36: 419-424. Epub 2009 Oct 2014.
39. Erlic Z, Hoffmann MM, Sullivan M, Franke G, Peczkowska M, et al. (2010) Pathogenicity of DNA variants and double mutations in multiple endocrine neoplasia type 2 and von Hippel-Lindau syndrome. J Clin Endocrinol Metab 95: 308-313. Epub 2009 Nov 2011.
40. Muth A, Abel F, Jansson S, Nilsson O, Ahlman H, et al. (2012) Prevalence of germline mutations in patients with pheochromocytoma or abdominal paraganglioma and sporadic presentation: a population-based study in Western sweden. World J Surg 36: 1389-1394.
41. Comino-Mendez I, de Cubas AA, Bernal C, Alvarez-Escola C, Sanchez-Malo C, et al. (2013) Tumoral EPAS1 (HIF2A) mutations explain sporadic pheochromocytoma and paraganglioma in the absence of erythrocytosis. Hum Mol Genet 26: 26.
42. Easton DF, Deffenbaugh AM, Pruss D, Frye C, Wenstrup RJ, et al. (2007) A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes. Am J Hum Genet 81: 873-883. Epub 2007 Sep 2006.
43. Eisenhofer G, Walther MM, Huynh TT, Li ST, Bornstein SR, et al. (2001) Pheochromocytomas in von Hippel-Lindau syndrome and multiple endocrine neoplasia type 2 display distinct biochemical and clinical phenotypes. J Clin Endocrinol Metab 86: 1999-2008. (Pubitemid 32472911)
44. Leslie EJ, Standley J, Compton J, Bale S, Schutte BC, et al. (2012) Comparative analysis of IRF6 variants in families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databases. Genet Med 15: 141.
45. van Heerden JA, Roland CF, Carney JA, Sheps SG, Grant CS (1990) Long-term evaluation following resection of apparently benign pheochromocytoma(s)/ paraganglioma(s). World J Surg 14: 325-329. (Pubitemid 20299929)
46. Pacak K, Jochmanova I, Prodanov T, Yang C, Merino MJ, et al. (2013) New Syndrome of Paraganglioma and Somatostatinoma Associated With Polycythemia. J Clin Oncol 18: 18.
47. Wells SA, Jr., Robinson BG, Gagel RF, Dralle H, Fagin JA, et al. (2012) Vandetanib in Patients With Locally Advanced or Metastatic Medullary Thyroid Cancer: A Randomized, Double-Blind Phase III Trial. J Clin Oncol 30: 134-141. Epub 2011 Oct 2024.
48. Favier J, Igaz P, Burnichon N, Amar L, Libe R, et al. (2012) Rationale for Anti-angiogenic Therapy in Pheochromocytoma and Paraganglioma. Endocr Pathol 23: 34-42.