DNA methylation profiling in pheochromocytoma and paraganglioma reveals diagnostic and prognostic markers

Clinical Cancer Research

Volumn 21, Issue 13, 2015, Pages 3020-3030

  De Cubas, Aguirre A ^a   Korpershoek, Esther ^b   Inglada Pérez, Lucia ^a,c   Letouzé, Eric ^d   Currás Freixes, Maria ^a   Fernández, Agustin F ^e   Comino Méndez, Iñaki ^a   Schiavi, Francesca ^f   Mancikova, Veronika ^a   Eisenhofer, Graeme ^g   Mannelli, Massimo ^h   Opocher, Guiseppe ^f,i   Timmers, Henri ^j   Beuschlein, Felix ^k   De Krijger, Ronald ^l   Cascon, Alberto ^a,c   Rodríguez Antona, Cristina ^a,c   Fraga, Mario F ^e,m   Favier, Judith ^n,o   Gimenez Roqueplo, Anne Paule ^n,o,p,q   Robledo, Mercedes ^a,c   more..

^a Centro Nacional de Investigaciones Oncológicas   (Spain)

^b ERASMUS MC CANCER INSTITUTE   (Netherlands)

^c CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^d Cartes d'Identité des Tumeurs Program   (France)

^e UNIVERSITY OF OVIEDO   (Spain)

^f VENETO INSTITUTE OF ONCOLOGY IOV IRCCS   (Italy)

^g DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^h UNIVERSITY OF FLORENCE   (Italy)

ⁱ UNIVERSITY OF PADOVA   (Italy)

^j RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^k LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^l JOSEPHINE NEFKENS INSTITUTE   (Netherlands)

^m CENTRO NACIONAL DE BIOTECNOLOGÍA   (Spain)

ⁿ PARIS CARDIOVASCULAR RESEARCH CENTER   (France)

^o UNIVERSITÉ PARIS DESCARTES   (France)

^p HÔPITAL EUROPÉEN GEORGES POMPIDOU   (France)

^q INSTITUT NATIONAL DU CANCER   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

BISULFITE; GLUTATHIONE PEROXIDASE 3; PARAFFIN; NEGATIVE ELONGATION FACTOR; TRANSCRIPTION FACTOR; TUMOR MARKER;

ADULT; APOPTOSIS; ARTICLE; CANCER RISK; CARCINOGENESIS; COHORT ANALYSIS; CONTROLLED STUDY; CPG ISLAND; DNA INTEGRATION; DNA METHYLATION; FEMALE; GENE; GENE EXPRESSION PROFILING; GENE INACTIVATION; GENE REPLICATION; GENOTYPE; GPX3 GENE; HUMAN; MAJOR CLINICAL STUDY; MALE; METASTASIS POTENTIAL; PARAGANGLIOMA; PDZK1 GENE; PHEOCHROMOCYTOMA; PRIORITY JOURNAL; PYROSEQUENCING; RDBP GENE; RERG GENE; RETROSPECTIVE STUDY; SDHB GENE; TUMOR GROWTH; TUMOR INVASION; VALIDATION STUDY; ADRENAL GLAND NEOPLASMS; DNA SEQUENCE; GENETICS;

ADRENAL GLAND NEOPLASMS; ADULT; BIOMARKERS, TUMOR; CPG ISLANDS; DNA METHYLATION; FEMALE; HUMANS; MALE; PARAGANGLIOMA; PHEOCHROMOCYTOMA; SEQUENCE ANALYSIS, DNA; TRANSCRIPTION FACTORS;

EID: 84942239095     PISSN: 10780432     EISSN: 15573265     Source Type: Journal    
DOI: 10.1158/1078-0432.CCR-14-2804     Document Type: Article

References (49)

1. Dahia PL. Pheochromocytoma and paraganglioma pathogenesis: learning from genetic heterogeneity. Nat Rev Cancer 2014;14:108-19.
2. Letouze E, Martinelli C, Loriot C, Burnichon N, Abermil N, Ottolenghi C, et al. SDH mutations establish a hypermethylator phenotype in paragan-glioma. Cancer Cell 2013;23:739-52.
3. Lopez-Jimenez E, Gomez-Lopez G, Leandro-Garcia LJ, Munoz I, Schiavi F, Montero-Conde C, et al. Research resource:transcriptional profiling reveals different pseudohypoxic signatures in SDHB and VHL-related pheochro-mocytomas. Mol Endocrinol 2010;24:2382-91.
4. de Cubas AA, Leandro-Garcia LJ, Schiavi F, Mancikova V, Comino-Mendez I, Inglada-Perez L, et al. Integrative analysis of miRNA and mRNA expression profiles in pheochromocytoma and paraganglioma identifies genotype-specific markers and potentially regulated pathways. Endocr Relat Cancer 2013;20:477-93.
5. Martiniova L, Lu J, Chiang J, Bernardo M, Lonser R, Zhuang Z, et al. Pharmacologic modulation of serine/threonine phosphorylation highly sensitizes PHEO in a MPC cell and mouse model to conventional chemotherapy. PLoS One 2011;6:e14678.
6. Lv P, Wang Y, Ma J, Wang Z, Li JL, Hong CS, et al. Inhibition of protein phosphatase 2A with a small molecule LB100 radiosensitizes nasopha-ryngeal carcinoma xenografts by inducing mitotic catastrophe and blocking DNA damage repair. Oncotarget 2014;5:7512-24.
7. Hadoux J, Favier J, Scoazec JY, Leboulleux S, Al Ghuzlan A, Caramella C, et al. SDHB mutations are associated with response to temozolomide in patients with metastatic pheochromocytoma or paraganglioma. Int J Cancer 2014;135:2711-20.
8. Killian JK, Kim SY, Miettinen M, Smith C, Merino M, Tsokos M, et al. Succinate dehydrogenase mutation underlies global epigenomic divergence in gastrointestinal stromal tumor. Cancer Discov 2013;3:648-57.
9. Jones PA, Baylin SB. The fundamental role of epigenetic events in cancer. Nat Rev Genet 2002;3:415-28.
10. Astuti D, Agathanggelou A, Honorio S, Dallol A, Martinsson T, Kogner P, et al. RASSF1A promoter region CpG island hypermethylation in phaeochromocytomas and neuroblastoma tumours. Oncogene 2001; 20:7573-7.
11. Geli J, Kiss N, Lanner F, Foukakis T, Natalishvili N, Larsson O, et al. The Ras effectors NORE1A and RASSF1A are frequently inactivated in pheochro-mocytoma and abdominal paraganglioma. Endocr Relat Cancer 2007; 14:125-34.
12. Altman DG, McShane LM, Sauerbrei W, Taube SE. Reporting Recommendations for Tumor Marker Prognostic Studies (REMARK): explanation and elaboration. PLoS Med 2012;9:e1001216.
13. Comino-Mendez I, de Cubas AA, Bernal C, Alvarez-Escola C, San-chez-Malo C, Ramirez-Tortosa CL, et al. Tumoral EPAS1 (HIF2A) mutations explain sporadic pheochromocytoma and paragang-lioma in the absence of erythrocytosis. Hum Mol Genet 2013;22: 2169-76.
14. Comino-Mendez I, Gracia-Aznarez FJ, Schiavi F, Landa I, Leandro-Garcia LJ, Leton R, et al. Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma. Nat Genet 2011;43:663-7.
15. Bibikova M, Le J, Barnes B, Saedinia-Melnyk S, Zhou L, Shen R, et al. Genome-wide DNA methylation profiling using Infinium(R) assay. Epi-genomics 2009;1:177-200.
16. Du P, Zhang X, Huang CC, Jafari N, Kibbe WA, Hou L, et al. Comparison of Beta-value and M-value methods for quantifying methylation levels by microarray analysis. BMC Bioinformatics 2010;11:587.
17. Wilkerson MD, Hayes DN. ConsensusClusterPlus: a class discovery tool with confidence assessments and item tracking. Bioinformatics 2010;26: 1572-3.
18. Gentleman RC, Carey VJ, Bates DM, Bolstad B, Dettling M, Dudoit S, et al. Bioconductor: open software development for computational biology and bioinformatics. Genome Biol 2004;5:R80.
19. Sun J, Li R. Human negative elongation factor activates transcription and regulates alternative transcription initiation. J Biol Chem 2010;285: 6443-52.
20. Qin N, de Cubas AA, Garcia-Martin R, Richter S, Peitzsch M, Menschi-kowski M, et al. Opposing effects of HIF1alpha and HIF2alpha on chromaffin cell phenotypic features and tumor cell proliferation: insights from MYC-associated factor X. Int J Cancer 2014;135:2054-64.
21. Borssen M, Palmqvist L, Karrman K, Abrahamsson J, Behrendtz M, Heldrup J, et al. PromoterDNA methylation pattern identifies prognostic subgroups in childhood T-cell acute lymphoblastic leukemia. PLoS One 2013;8: e65373.
22. Abe M, Ohira M, Kaneda A, Yagi Y, Yamamoto S, Kitano Y, et al. CpG island methylator phenotype is a strong determinant of poor prognosis in neuroblastomas. Cancer Res 2005;65:828-34.
23. Noushmehr H, Weisenberger DJ, Diefes K, Phillips HS, Pujara K, Berman BP, et al. IdentificationofaCpG island methylator phenotype that definesa distinct subgroup of glioma. Cancer Cell 2010;17:510-22.
24. Amar L, Baudin E, Burnichon N, Peyrard S, Silvera S, Bertherat J, et al. Succinate dehydrogenase Bgene mutations predict survival in patientswith malignant pheochromocytomas or paragangliomas. J Clin Endocrinol Metab 2007;92:3822-8.
25. Castro-Vega LJ, Buffet A, DeCubas AA, Cascon A, Menara M, Khalifa E, et al. Germline mutations in FH confer predisposition to malignant pheochro-mocytomas and paragangliomas. Hum Mol Genet 2014;23:2440-6.
26. Xu W, Yang H, Liu Y, Yang Y, Wang P, Kim SH, et al. Oncometabolite 2-hydroxyglutarate is a competitive inhibitor of alpha-ketoglutarate-depen-dent dioxygenases. Cancer Cell 2011;19:17-30.
27. Tobiume K. Involvement of Bcl-2 family proteins in p53-induced apopto-sis. J Nippon Med Sch 2005;72:192-3.
28. Anderson DJ, Michelsohn A. Role of glucocorticoids in the chromaffin-neuron developmental decision. Int J Dev Neurosci 1989;7:475-87.
29. Huynh TT, Pacak K, Wong DL, Linehan WM, Goldstein DS, Elkahloun AG, et al. Transcriptional regulation of phenylethanolamine N-methyltransfer-ase in pheochromocytomas from patients with von Hippel-Lindau syndrome and multiple endocrine neoplasia type 2. Ann N Y Acad Sci 2006;1073:241-52.
30. Lu KH, Li W, Liu XH, Sun M, Zhang ML, Wu WQ, et al. Long non-coding RNA MEG3 inhibits NSCLC cells proliferation and induces apoptosis by affecting p53 expression. BMC Cancer 2013;13:461.
31. Bagui TK, Sharma SS, Ma L, Pledger WJ. Proliferative status regulates HDAC11 mRNA abundance in nontransformed fibroblasts. Cell Cycle 2013;12:3433-41.
32. Nikoletopoulou V, Lickert H, Frade JM, Rencurel C, Giallonardo P, Zhang L, et al. Neurotrophin receptorsTrkA and TrkC cause neuronal death whereas TrkB does not. Nature 2010;467:59-63.
33. Bredesen DE, Mehlen P, Rabizadeh S. Receptors that mediate cellular dependence. Cell Death Differ 2005;12:1031-43.
34. Lee S, Nakamura E, Yang H, Wei W, Linggi MS, Sajan MP, et al. Neuronal apoptosis linked to EglN3 prolyl hydroxylase and familial pheochromo-cytoma genes: developmental culling and cancer. Cancer Cell 2005;8: 155-67.
35. Jackson RS II, Cho YJ, Stein S, Liang P. CYFIP2, a direct p53 target, is leptomycin-B sensitive. Cell Cycle 2007;6:95-103.
36. Pittman AJ, Gaynes JA, Chien CB. nev (cyfip2) is required for retinal lamination and axon guidance in the zebrafish retinotectal system. Dev Biol 2010;344:784-94.
37. Mongroo PS, Noubissi FK, Cuatrecasas M, Kalabis J, King CE, Johnstone CN, et al. IMP-1 displays cross-talk with K-Ras and modulates colon cancer cell survival through the novel proapoptotic protein CYFIP2. Cancer Res 2011;71:2172-82.
38. Ren F, Wang DB, Li T. [Epigenetic inactivation of SPOCK2 in the malignant transformation of ovarian endometriosis]. Zhonghua Fu Chan Ke Za Zhi 2011;46:822-5.
39. Schnepp A, Komp Lindgren P, Hulsmann H, Kroger S, Paulsson M, Hartmann U. Mouse testican-2. Expression, glycosylation, and effects on neurite outgrowth. J Biol Chem 2005;280:11274-80.
40. Kramps T, Peter O, Brunner E, Nellen D, Froesch B, Chatterjee S, et al. Wnt/wingless signaling requires BCL9/legless-mediated recruitment of pygopus to the nuclear beta-catenin-TCF complex. Cell 2002;109:47-60.
41. Yamaguchi Y, Takagi T, Wada T, Yano K, Furuya A, Sugimoto S, et al. NELF, a multisubunit complex containing RD, cooperates with DSIF to repress RNA polymerase II elongation. Cell 1999;97:41-51.
42. Yamaguchi Y, Inukai N, Narita T, Wada T, Handa H. Evidence that negative elongation factor represses transcription elongation through binding to a DRB sensitivity-inducing factor/RNA polymerase II complex and RNA. Mol Cell Biol 2002;22:2918-27.
43. Aida M, Chen Y, Nakajima K, Yamaguchi Y, Wada T, Handa H. Transcriptional pausing caused by NELF plays a dual role in regulating immediate-early expression of the junB gene. Mol Cell Biol 2006;26: 6094-104.
44. Kanno T, Kamba T, Yamasaki T, Shibasaki N, Saito R, Terada N, et al. JunB promotes cell invasion and angiogenesis in VHL-defective renal cell carcinoma. Oncogene 2012;31:3098-110.
45. Stamenkovic I. Matrix metalloproteinases in tumor invasion and metastasis. Semin Cancer Biol 2000;10:415-33.
46. van Veelen W, Klompmaker R, Gloerich M, van Gasteren CJ, Kalkhoven E, Berger R, et al. P18 is a tumor suppressor gene involved in human medullary thyroid carcinoma and pheochromocytoma development. Int J Cancer 2009;124:339-45.
47. Peng DF, Hu TL, Schneider BG, Chen Z, Xu ZK, El-Rifai W. Silencing of glutathione peroxidase 3 through DNA hypermethylation is associated with lymph node metastasis in gastric carcinomas. PLoS One 2012;7: e46214.
48. Habashy HO, Powe DG, Glaab E, Ball G, Spiteri I, Krasnogor N, et al. RERG (Ras-like, oestrogen-regulated, growth-inhibitor) expression in breast cancer: a marker of ER-positive luminal-like subtype. Breast Cancer Res Treat 2011;128:315-26.
49. Kim JK, Kwon O, Kim J, Kim EK, Park HK, Lee JE, et al. PDZ domain-containing 1 (PDZK1) protein regulates phospholipase C-beta3 (PLC-beta3)-specific activation of somatostatin by forming a ternary complex with PLC-beta3 and somatostatin receptors. J Biol Chem 2012;287: 21012-24.