Methylation of the p16INK4A promoter is associated with malignant behavior in abdominal extra-adrenal paragangliomas but not pheochromocytomas

Endocrine-Related Cancer

Volumn 15, Issue 2, 2008, Pages 609-621

  Kiss, N B ^a   Geli, J ^a   Lundberg, F ^a   Avci, C ^a   Velazquez Fernandez, D ^a   Hashemi, J ^a   Weber, G ^b   Hoog A ^a   Ekstrom T J ^a   Backdahl M ^a   Larsson, C ^a  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^b UNIVERSITÉ DE TOURS   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIN DEPENDENT KINASE INHIBITOR 2A; MESSENGER RNA; SUCCINATE DEHYDROGENASE; SDHB PROTEIN, HUMAN;

ARTICLE; CANCER PATIENT; CHEMODECTOMA; CONTROLLED STUDY; GENE MUTATION; GENE REPRESSION; HUMAN; HUMAN CELL; HUMAN TISSUE; MAJOR CLINICAL STUDY; METHYLATION; PHEOCHROMOCYTOMA; POLYMERASE CHAIN REACTION; PROTEIN EXPRESSION; PYROSEQUENCING; REAL TIME POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; STATISTICAL SIGNIFICANCE; WESTERN BLOTTING; ADRENERGIC SYSTEM; BREAST TUMOR; DNA METHYLATION; GENE EXPRESSION REGULATION; GENETIC VARIABILITY; GENETICS; MISSENSE MUTATION; OSTEOSARCOMA; PATHOLOGY; PERIPHERAL NERVE TUMOR; PHYSIOLOGY; PROMOTER REGION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; TUMOR CELL LINE; TUMOR SUPPRESSOR GENE;

BREAST NEOPLASMS; CELL LINE, TUMOR; DNA METHYLATION; GENE EXPRESSION REGULATION, NEOPLASTIC; GENES, P16; HUMANS; MUTATION, MISSENSE; OSTEOSARCOMA; PARAGANGLIOMA, EXTRA-ADRENAL; PERIPHERAL NERVOUS SYSTEM NEOPLASMS; PHEOCHROMOCYTOMA; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS (GENETICS); REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SUCCINATE DEHYDROGENASE; SUPPRESSION, GENETIC; SYMPATHETIC NERVOUS SYSTEM; TUMOR SUPPRESSOR PROTEIN P14ARF; VARIATION (GENETICS);

EID: 45849083547     PISSN: 13510088     EISSN: None     Source Type: Journal    
DOI: 10.1677/ERC-07-0285     Document Type: Article

References (47)

1. Aguiar RC, Dahia PL, Sill H, Toledo SP, Goldman JM & Cross NC 1996 Deletion analysis of the p16 tumour suppressor gene in phaeochromocytomas. Clinical Endocrinology 45 93-96.
2. Amar L, Bertherat J, Baudin E, Ajzenberg C, Bressac-de Paillerets B, Chabre O, Chamontin B, Delemer B, Giraud S & Murat A 2005 Genetic testing in pheochromocytoma or functional paraganglioma. Journal of Clinical Oncology 23 8812-8818.
3. Antequera F, Boyes J & Bird A 1990 High levels of de novo methylation and altered chromatin structure at CpG islands in cell lines. Cell 62 503-514.
4. Baylin SB, Herman JG, Graff JR, Vertino PM & Issa J-P 1998 Alterations in DNA methylation: a fundamental aspect of neoplasia. Advances in Cancer Research 72 141-196.
5. Benn DE, Croxson MS, Tucker K, Bambach CP, Richardson AL, Delbridge L, Pullan PT, Hammond J, Marsh DJ & Robinson BG 2003 Novel succinate dehydrogenase subunit B (SDHB) mutations in familial phaeochromocytomas and paragangliomas, but an absence of somatic SDHB mutations in sporadic phaeochromocytomas. Oncogene 22 1358-1364.
6. Brownhill SC, Taylor C & Burchill SA 2007 Chromosome 9p21 gene copy number and prognostic significance of p16 in ESFT. British Journal of Cancer 96 1914-1923.
7. Bryant J, Farmer J, Kessler LJ, Townsend RR & Nathanson KL 2003 Pheochromocytoma: the expanding genetic differential diagnosis. Journal of National Cancer Institute 95 1196-1204.
8. Castellano M, Mori L, Giacchè M, Agliozzo E, Tosini R, Panarotto A, Cappelli C, Mulatero P, Cumetti D, Veglio F et al. 2006 Genetic mutation screening in an italian cohort of nonsyndromic pheochromocytoma/ paraganglioma patients. Annals of the New York Academy of Sciences 1073 156-165.
9. Chen G, Gharib TG, Huang CC, Taylor JM, Misek DE, Kardia SL, Giordano TJ, Iannettoni MD, Orringer MB, Hanash SM et al. 2002 Discordant protein and mRNA expression in lung adenocarcinomas. Molecular and Cellular Proteomics 1 304-313.
10. Dammann R, Schagdarsurengin U, Seidel C, Trümpler C, Hoang-Vu C, Gimm O, Dralle H, Pfeifer GP & Brauckhoff M 2005 Frequent promoter methylation of tumor-related genes in sporadic and men2-associated pheochromocytomas. Experimental and Clinical Endocrinology and Diabetes 113 1-7.
11. Debniak T, Gorski B, Huzarski T, Byrski T, Cybulski C, Mackiewicz A, Gozdecka-Grodecka S, Gronwald J, Kowalska E, Haus O et al. 2005 A common variant of CDKN2A (p16) predisposes to breast cancer. Journal of Medical Genetics 42 763-765.
12. Debniak T, Scott RJ, Huzarski T, Byrski T, Rozmiarek A, Debniak B, Gorski B, Cybulski C, Medrek K, Mierzejewski M et al. 2006 CDKN2A common variant and multi-organ cancer risk - a population-based study. International Journal of Cancer 118 3180-3182.
13. Edström E, Mahlamaki E, Nord B, Kjellman M, Karhu R, Höög A, Goncharov N, Teh BT, Bäckdahl M & Larsson C 2000 Comparative genomic hybridization reveals frequent losses of chromosomes 1p and 3q in pheochromocytomas and abdominal paragangliomas, suggesting a common genetic etiology. American Journal of Pathology 156 651-659.
14. Edström-Elder E, Hjelm-Skog AL, Höög A & Hamberger B 2003 The management of benign and malignant pheochromocytoma and abdominal paraganglioma. European Journal of Surgery and Oncology 29 278-283.
15. Elder EE, Elder G & Larsson C 2005 Pheochromocytoma and functional paraganglioma syndrome: no longer the 10% tumor. Journal of Surgical Oncology 89 193-201.
16. Esteller M 2003 Cancer epigenetics: DNA methylation and chromatin alterations in human cancer. Advances in Experimental Medicine and Biology 532 39-49.
17. Esteller M 2005 Aberrant DNA methylation as a cancer-inducing mechanism. Annual Review of Pharmacology and Toxicology 45 629-656.
18. Esteller M, Tortola S, Toyota M, Capella G, Peinado MA, Baylin SB & Herman JG 2000 Hypermethylation-associated inactivation of p14(ARF) is independent of p16(INK4a) methylation and p53 mutational status. Cancer Research 60 129-133.
19. Esteller M, Corn PG, Baylin SB & Herman JG 2001 A gene hypermethylation profile of human cancer. Cancer Research 61 3225-3229.
20. Feinberg AP & Tycko B 2004 The history of cancer epigenetics. Nature Reviews. Cancer 4 143-153.
21. Geli J, Nord B, Frisk T, Edström Elder E, Ekström TJ, Carling T, Bäckdahl M & Larsson C 2005 Deletions and altered expression of the RIZ1 tumour suppressor gene in 1p36 in pheochromocytomas and abdominal paragangliomas. International Journal of Oncology 26 1385-1391.
22. Geli J, Kiss N, Lanner F, Foukakis T, Natalishvili N, Larsson O, Kogner P, Höög A, Clark GJ, Ekström TJ et al. 2007 The Ras effectors NORE1A and RASSF1A are frequently inactivated in pheochromocytoma and abdominal paraganglioma. Endocrine-Related Cancer 14 125-134.
23. Gygi SP, Rochon Y, Franza BR & Aebersold R 1999 Correlation between protein and mRNA abundance in yeast. Molecular and Cellular Biology 19 1720-1730.
24. Hardie LJ, Darnton SJ, Wallis YL, Chauhan A, Hainaut P, Wild CP & Casson AG 2005 p16 expression in Barrett's esophagus and esophageal adenocarcinoma: association with genetic and epigenetic alterations. Cancer Letters 217 221-230.
25. Herman JG, Graff JR, Myohanen S, Nelkin BD & Baylin SB 1996 Methylation-specific PCR: a novel PCR assay for methylation status of CpG islands. PNAS 93 9821-9826.
26. Holliday R & Grigg GW 1993 DNA methylation and mutation. Mutation Research 285 61-67.
27. Kaz A, Kim YH, Dzieciatkowski S, Lynch H, Watson P, Kay Washington M, Lin L & Grady WM 2007 Evidence for the role of aberrant DNA methylation in the pathogenesis of Lynch syndrome adenomas. International Journal of Cancer 120 1922-1929.
28. Kimura N, Chetty R, Capella C, Young WF Jr, Koch CA, Lam KY, DeLellis RA, Kawashima A, Komminoth P & Tischler AS 2004 Extra-adrenal paraganglioma: carotid body, jugulotympanic, vagal, laryngeal, aortico-pulmonary. In World Health Organization Classification of Tumors. Pathology and Genetics of Tumors of Endocrine Organs, pp 159-161. Eds RA DeLellis, RV Lloyd, PU Heitz & C Eng. Lyon: IARC Press.
29. Konishi K, Shen L, Wang S, Meltzer SJ, Harpaz N & Issa JP 2007 Rare CpG island methylator phenotype in ulcerative colitis-associated neoplasias. Gastroenterology 132 1254-1260.
30. Lack EE 1997 Tumors of the Adrenal Gland and Extra-Adrenal Paraganglia. Washington, DC: Armed Forces Institute of Pathology.
31. Liu Z, Wang LE, Wang L, Lu KH, Mills GB, Bondy ML & Wei Q 2005 Methylation and messenger RNA expression of p15INK4b but not p16INK4a are independent risk factors for ovarian cancer. Clinical Cancer Research 11 4968-4976.
32. Mao L, Merlo A, Bedi G, Shapiro GI, Edwards CD, Rollins BJ & Sidransky D 1995 A novel p16INK4A transcript. Cancer Research 55 2995-2997.
33. Mark EB, Jonsson M, Asp J, Wennberg AM, Mölne L & Lindahl A 2006 Expression of genes involved in the regulation of p16 in psoriatic involved skin. Archives of Dermatological Research 297 459-467.
34. McCabe DC & Caudill MA 2005 DNA methylation, genomic silencing, and links to nutrition and cancer. Nutrition Reviews 63 183-195.
35. Nakamura E & Kaelin WG 2006 Recent insights into the molecular pathogenesis of pheochromocytoma and paraganglioma. Endocrine Pathology 17 97-106.
36. Neumann HP, Bausch B, McWhinney SR, Bender BU, Gimm O, Franke G, Schipper J, Klisch J, Altehoefer C, Zerres K et al. 2002 Germ-line mutations in nonsyndromic pheochromocytoma. New England Journal of Medicine 346 1459-1466.
37. Neumann HP, Pawlu C, Peczkowska M, Bausch B, McWhinney SR, Muresan M, Buchta M, Franke G, Klisch J, Bley TA et al. 2004 Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. Journal of the American Medical Association 292 943-951.
38. Puig S, Malvehy J, Badenas C, Ruiz A, Jimenez D, Cuellar F, Azon A, Gonzalez U, Castel T & Campoy A 2005 Role of the CDKN2A locus in patients with multiple primary melanomas. Journal of Clinical Oncology 23 3043-3051.
39. Quelle DE, Zindy F, Ashmun RA & Sherr CJ 1995 Alternative reading frames of the INK4a tumor suppressor gene encode two unrelated proteins capable of inducing cell cycle arrest. Cell 83 993-1000.
40. Rocco JW & Sidransky D 2001 p16(MTS-1/CDKN2/INK4a) in cancer progression. Experimental Cell Research 264 42-55.
41. Serrano M, Hannon GJ & Beach D 1993 A new regulatory motif in cell-cycle control causing specific inhibition of cyclin D/CDK4. Nature 366 704-707.
42. Sharpless NE 2005 INK4a/ARF: a multifunctional tumor suppressor locus. Mutation Research 576 22-38.
43. Sharpless NE & DePinho RA 1999 The INK4A/ARF locus and its two gene products. Current Opinion in Genetics & Development 9 22-30.
44. De Smet C, Lurquin C, Lethé B, Martelange V & Boon T 1999 DNA methylation is the primary silencing mechanism for a set of germ line- and tumor-specific genes with a CpG-rich promoter. Molecular and Cellular Biology 19 7327-7335.
45. Thompson LDR, Young WF Jr, Kawashima A, Komminoth P & Tischler AS 2004 Malignant adrenal pheochromocytomas. In World Health Organization Classification of Tumors. Pathology and Genetics of Tumors of Endocrine Organs, pp 147-150. Eds RA DeLellis, RV Lloyd, PU Heitz & C Eng. Lyon: IARC Press.
46. Tischler AS, Komminoth P, Kimura N & Young WF Jr 2004 Extra-adrenal paraganglioma: gangliocytic, cauda equina, orbital, nasopharyngeal. In World Health Organization Classification of Tumors. Pathology and Genetics of Tumors of Endocrine Organs, pp 162-163. Eds RA DeLellis, RV Lloyd, PU Heitz & C Eng. Lyon: IARC Press.
47. You MJ, Castrillon DH, Bastian BC, O'Hagan RC, Bosenberg MW, Parsons R, Chin L & DePinho RA 2002 Genetic analysis of Pten and Ink4a/Arf interactions in the suppression of tumorigenesis in mice. PNAS 99 1455-1460.