Update on the molecular diagnosis of endocrine tumors: Toward -omics-based personalized healthcare?

Journal of Clinical Endocrinology and Metabolism

Volumn 93, Issue 4, 2008, Pages 1097-1104

  Weber, Frank ^a,d   Eng, Charis ^a,b,c,e  

^a Genomic Medicine Institute   (United States)

^b TAUSSIG CANCER INSTITUTE   (United States)

^c CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d UNIVERSITY HOSPITAL ESSEN   (Germany)

^e LERNER RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADRENAL TUMOR; CANCER DIAGNOSIS; CANCER GENETICS; CANCER RISK; ENDOCRINE TUMOR; GENE MUTATION; GENETIC PREDISPOSITION; GENETIC RISK; GERM LINE; HUMAN; NEUROFIBROMATOSIS; ONCOGENE RET; PRIORITY JOURNAL; REVIEW; SIPPLE SYNDROME; THYROID TUMOR;

EID: 42049121908     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2008-0212     Document Type: Article

References (72)

1. Weber F, Eng C 2005 Gene expression profiling in differentiated thyroid cancers: a viable strategy for the practice of genomic medicine? Future Oncol 1:497-510
2. Zbuk K, Eng C 2007 Cancer phenomics: RET and PTEN as illustrative models. Nat Rev Cancer 7:35-45
3. Cronin M, Sangli C, Liu ML, Pho M, Dutta D, Nguyen A, Jeong J, Wu J, Langone KC, Watson D 2007 Analytical validation of the Oncotype Dx genomic diagnostic test for recurrence prognosis and therapeutic response prediction in node-negative, estrogen receptor-positive breast cancer. Clin Chem 53:1084-1091
4. Starink TM, van der Veen JPW, Arwert F, de Waal LP, de Lange GG, Gille JJ, Eriksson AW 1986 The Cowden syndrome: a clinical and genetic study in 21 patients. Clin Genet 29:222-233
5. Nelen MR, Padberg GW, Peeters EAJ, Lin AY, van den Helm B, Frants RR, Coulon V, Goldstein AM, van Reen MM, Easton DF, Eeles RA, Hodgson S, Mulvihill JJ, Murday VA, Tucker MA, Mariman EC, Starink TM, Ponder BA, Ropers HH, Kremer H, Longy M, Eng C 1996 Localization of the gene for Cowden disease to 10q22-23. Nat Genet 13:114-116
6. Liaw D, Marsh DJ, Li J, Dahia PLM, Wang SI, Zheng Z, Bose S, Call KM, Tsou HC, Peacocke M, Eng C, Parsons R 1997 Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. Nat Genet 16:64-67
7. Marsh DJ, Coulon V, Lunetta KL, Rocca-Serra P, Dahia PL, Zheng Z, Liaw D, Caron S, Duboué B, Lin AY, Richardson AL, Bonnetblanc JM, Bressieux JM, Cabarrot-Moreau A, Chompret A, Demange L, Eeles RA, Yahanda AM, Fearon ER, Fricker JP, Gorlin RJ, Hodgson SV, Huson S, Lacombe D, LePrat F, Odent S, Toulouse C, Olopade OI, Sobol H, Tishler S, Woods CG, Robinson BG, Weber HC, Parsons R, Peacocke M, Longy M, Eng C 1998 Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation. Hum Mol Genet 7:507-515
8. Zhou XP, Waite KA, Pilarski R, Hampel H, Fernandez MJ, Bos C, Dasouki M, Feldman GL, Matloff E, Ivanovich J, Greenberg LA, Patterson A, Pierpont ME, Russo D, Nassif NT, Eng C 2003 Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway. Am J Hum Genet 73:404-411
9. Pezzolessi MG, Zbuk KM, Waite KA, Eng C 2007 Comparative genomic and functional analyses reveal a novel cis-acting PTEN regulatory element as a highly conserved functional E-box motif deleted in Cowden syndrome. Hum Mol Genet 16:1058-1071
10. Teresi RE, Zbuk KM, Pezzolesi MG, Waite KA, Eng C 2007 Cowden syndrome patients with PTEN promoter mutations demonstrate abnormal protein translation. Am J Hum Genet 81:756-767
11. Pezzolesi MG, Li Y, Zhou XP, Pilarski R, Shen L, Eng C 2006 Mutation positive and mutation negative patients with Cowden and Bannayan-Riley-Ruvalcaba syndrome associated with distinct 10q haplotypes. Am J Hum Genet 79:923-934
12. Sarquis MS, Agrawal S, Shen L, Pilarski R, Zhou XP, Eng C 2006 Distinct expression profiles of PTEN transcript and its splice variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome. Am J Hum Genet 79:23-31
13. Kirschner LS, Carney JA, Pack S, Taymans SE, Giatzakis C, Cho YS, Cho-Chung YS, Stratakis CA 2000 Mutations of the gene encoding the protein kinase A type 1-α regulatory subunit in patients with Carney complex. Nat Genet 26:89-92
14. Kirschner LS, Sandrini F, Monbo J, Lin JP, Carney JA, Stratakis CA 2000 Genetic heterogeneity and spectrum of mutations of the PRKAR1A gene in patients with the Carney complex. Hum Mol Genet 9:3037-3046
15. Horvath A, Boikos S, Glatzakis C, Robinson-White A, Groussin L, Griffin KL, Stein E, Levine E, Delimpasi G, Hsiao HP, Keil M, Heyerdahl S, Matyakhina L, Libe R, Fratticci A, Kirschner LS, Cramer K, Gaillard RC, Bertagna X, Carney JA, Bertherat J, Bossis I, Stratakis CA 2006 A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A4) in individuals with adrenocortical hyperplasia. Nat Genet 38:794-800
16. Horvath A, Mericq V, Stratakis CA 2008 Mutation in PDE8B in adrenal hyperplasia. N Engl J Med 358:750-752
17. Boikos S, Stratakis CA 2007 Molecular genetics of cAMP-dependent protein kinase pathway and of sporadic pituitary tumorigenesis. Hum Mol Genet 16:R80-R87
18. Stratakis CA, Boikos S 2007 Genetics of adrenal tumors associated with Cushing's syndrome: a new classification for bilateral adrenocortical hyperplasias. Nat Clin Pract Endocrinol Metab 3:748-757
19. Eng C 2000 Familial papillary thyroid cancer: many syndromes, too many genes? J Clin Endocrinol Metab 85:1755-1757
20. Bignell GR, Canzian F, Shayeghi M, Stark M, Shugart YY, Biggs P, Mangion J, Hamoudi R, Rosenblatt J, Buu P, Sun S, Stoffer SS, Goldgar DE, Romeo G, Houlston RS, Naroid SA, Stratton MR, Foulkes WD 1997 Familial nontoxic multinodular goiter locus maps to chromosome 14q, but does not account for familial nonmedullary thyroid cancer. Am J Hum Genet 61:1123-1130
21. Canzian F, Amati P, Harach R, Kraimps JL, Lesueur F, Barbier J, Levillain P, Romeo G, Bonneau D 1998 A gene predisposing to familial thyroid tumors with cell oxyphilia maps to chromosome 19p13.2. Am J Hum Genet 63:1743-1748
22. Lesueur F, Stark M, Tocco T, Ayadi H, Delisle M, Goldgar D, Schlumberger M, Romeo G, Canzian F; NMTC Consortium 1999 Genetic heterogeneity in familial nonmedullary thyroid carcinoma: exclusion of linkage to RET, MNG1, and TCO in 56 families. J Clin Endocrinol Metab 84:2157-2162
23. McKay JD, Thompson D, Lesueur F, Stankov K, Pastore A, Watfah C, Strolz S, Riccabona G, Moncayo R, Romeo G, Goldgar DE 2004 Evidence for interaction between the TCO and NMTC1 loci in familial non-medullary thyroid cancer. J Med Genet 41:407-412
24. Griffith OL, Melck A, Jones SL, Wiseman SM 2006 Meta-analysis and meta-review of thyroid cancer gene expression studies identifies important diagnostic biomarkers. J Clin Oncol 24:5043-5051
25. Finn SP, Smyth P, Cahill S, Streck C, O'Regan EM, Flavin R, Sherlock J, Howell D, Henfrey R, Cullen M, Toner M, Timon C, O'Leary JJ, Sheils OM 2007 Expression microarray analysis of papillary thyroid carcinoma and benign thyroid tissue: emphasis on the follicular variant and potential markers of malignancy. Virchows Arch 450:249-260
26. Fujarewicz K, Jarzab M, Eszlinger M, Krohn K, Paschke R, Oczko-Wojciechowska M, Wiench M, Kukulska A, Jarzab B, Swierniak A 2007 A multi-gene approach to differentiate papillary thyroid carcinoma from benign lesions: gene selection using support vector machines with bootstrapping. Endocr Relat Cancer 14:809-826
27. Lubitz CC, Ugras SK, Kazam JJ, Zhu B, Scognamiglio T, Chen YT, Fahey TJ 2006 Microarray analysis of thyroid nodule fine-needle aspirates accurately classifies benign and malignant lesions. J Mol Diagn 8:490-498
28. Ishikawa T, Miwa M, Uchida K 2006 Quantitation of thyroid peroxidase mRNA in peripheral blood for early detection of thyroid papillary carcinoma. Thyroid 16:435-442
29. Chia SY, Milas M, Reddy SK, Siperstein A, Skugor M, Brainard J, Gupta MK 2007 Thyroid-stimulating hormone receptor messenger ribonucleic acid measurement in blood as a marker for circulating thyroid cancer cells and its role in the preoperative diagnosis of thyroid cancer. J Clin Endocrinol Metab 92:468-475
30. Cohen Y, Xing M, Mambo E, Guo Z, Wu G, Trink B, Beller U, Westra WH, Ladenson PW, Sidransky D 2003 BRAF mutation in papillary thyroid carcinoma. J Natl Cancer Inst 95:625-627
31. Fagin JA 2004 Challenging dogma in thyroid cancer molecular genetics: role of RET/PTC and BRAF in tumor initiation. J Clin Endocrinol Metab 89:4264-4266
32. Rowe LR, Bentz BG, Bentz JS 2006 Utility of BRAF V600E mutation detection in cytologically indeterminate thyroid nodules. Cytojournal 3:10
33. Foukakis T, Gusnanto A, Au AY, Hoog A, Lui WO, Larsson C, Wallin G, Zedenius J 2007APCR-based expression signature of malignancy in follicular thyroid tumors. Endocr Relat Cancer 14:381-391
34. Schmid KW, Farid NR 2006 How to define follicular thyroid carcinoma? Virchows Arch 448:385-393
35. Weber F, Shen L, Aldred MA, Morrison CD, Frilling A, Saji M, Schuppert F, Broelsch C, Ringel MD, Eng C 2005 Genetic classification of benign and malignant thyroid follicular neoplasias: novel means to improve preoperative diagnosis of thyroid nodules as a strategy to decrease surgical intervention. J Clin Endocrinol Metab 90:2515-2521
36. Thakker RV, Ponder BA 1988 Multiple endocrine neoplasia. Baillieres Clin Endocrinol Metab 2:1031-1067
37. Pallante P, Visone R, Ferracin M, Ferraro A, Berlingieri MT, Troncone G, Chiappetta G, Liu CG, Santoro M, Negrini M, Croce CM, Fusco A 2006 MicroRNA deregulation in human thyroid papillary carcinomas. Endocr Relat Cancer 13:497-508
38. He H, Jazdzewski K, Li W, Liyanarachchi S, Nagy R, Volinia S, Calin GA, Liu CG, Franssila K, Suster S, Kloos RT, Croce CM, de la Chapelle A 2005 The role of microRNA genes in papillary thyroid carcinoma. Proc Natl Acad Sci USA 102:19075-19080
39. Visone R, Russo L, Pallante P, deMartino I, Ferraro A, Leone V, Borbone E, Petrocca F, Alder H, Croce CM, Fusco A 2007 MicroRNAs (miR)-221 and miR-222, both overexpressed in human thyroid papillary carcinomas, regulate p27Kip1 protein levels and cell cycle. Endocr Relat Cancer 14:791-798
40. Weber F, Teresi RE, Broelsch CE, Frilling A, Eng C 2006 A limited set of human microRNAs is deregulated in follicular thyroid carcinoma. J Clin Endocrinol Metab 91:3584-3591
41. Visone R, Pallante P, Vecchione A, Cirombella R, Ferracin M, Ferraro A, Violinia S, Coluzzi S, Leone V, Borbone E, Liu CG, Petrocca F, Roncone G, Calin GA, Scarpa A, Colato C, Tallini G, Santoro M, Croce CM, Fusco A 2007 Specific microRNAs are downregulated in human thyroid anaplastic carcinomas. Oncogene 26:7590-7595
42. Suriano R, Lin Y, Ashok BT, Schaefer SD, Schantz SP, Geliebter J, Tiwari RK 2006 Pilot study using SELDI-TOF-MS based proteomic profile for the identification of diagnostic biomarkers of thyroid proliferative diseases. J Proteom Res 5:856-861
43. Brown LM, Helmke SM, Hunsucker SW, Netea-Maier RT, Chiang SA, Heinz DE, Shroyer KR, Duncan MW, Haugen BR 2006 Quantitative and qualitative differences in protein expression between papillary thyroid carcinoma and normal thyroid tissue. Mol Carcinog 45:613-626
44. Torres-Cabala C, Bibbo M, Panizo-Santos A, Barazi H, Krutzch H, Roberts DD, Merino MJ 2006 Proteomic identification of new biomarkers and application in thyroid cytology. Acta Cytol 50:518-528
45. Matesa N, Samija I, Kusic Z 2007 Galectin-3 and CD44v6 positivity by RT-PCR method in fine needle aspirates of benign thyroid lesions. Cytopathology 18:112-116
46. Scognamiglio T, Hyjek E, Kao J, Chen YT 2006 Diagnostic usefulness of HBME1, galectin-3, CK19, and CITED1 and evaluation of their expression in encapsulated lesions with questionable features of papillary thyroid carcinoma. Am J Clin Pathol 126:700-708
47. Bulow B, Jansson S, Juhlin C, Steen L, Thoren M, Wahrenberg H, Valdemarsson S, Wangberg B, Ahren B 2006 Adrenal incidentaloma: follow-up results from a Swedish prospective study. European Federation of Endocrine Societies. Eur J Endocrinol 154:419-423
48. Bovio S, Cataldi A, Reimondo G, Sperone P, Novello S, Berruti A, Borasio P, Fava C, Dogliotti L, Scagliotti GV, Angeli A, Terzolo M 2006 Prevalence of adrenal incidentaloma in a contemporary computerized tomography series. J Endocrinol Invest 29:298-302
49. Maher ER, Eng C 2002 The pressure rises: update on the genetics of phaeochromocytoma. Hum Mol Genet 11:2347-2354
50. Eng C, Kiuru M, Fernandez MJ, Aaltonen LA 2003 A role for mitochondrial enzymes in inherited neoplasia and beyond. Nat Rev Cancer 3:193-202
51. Baysal BE, Ferrell RE, Willett-Brozick JE, Lawrence EC, Myssiorek D, Bosch A, van der Mey A, Taschner PE, Rubinstein WS, Myers EN, Richard 3rd CW, Cornelisse CJ, Devilee P, Devlin B 2000 Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. Science 287:848-851
52. Niemann S, Muller U 2000 Mutations in SDHC cause autosomal dominant paraganglioma. Nat Genet 26:141-150
53. Astuti D, Douglas F, Lennard TWJ, Agaliaganis I, Woodward ER, Evans DGR, Eng C, Latif F, Maher ER 2001 Germline SDHD mutation in familial phaeochromocytoma. Lancet 357:1181-1182
54. Astuti D, Latif F, Dallol A, Dahia PLM, Douglas F, George E, Sköldberg F, Husebye ES, Eng C, Maher ER 2001 Mutations in the mitochondrial complex II subunit SDHB cause susceptibility to familial paraganglioma and pheochromocytoma. Am J Hum Genet 69:49-54
55. Matyakhina L, Freedman RJ, Bourdeau I, Wei MH, Stergiopoulos SG, Chidakel A, Walther M, Abu-Asab M, Tsokos M, Keil M, Toro J, Linehan WM, Stratakis CA 2005 Hereditary leiomyomatosis associated with bilateral, massive, macronodular adrenocortical disease and atypical Cushing syndrome: a clinical and molecular genetic investigation. J Clin Endocrinol Metab 90:3773-3779
56. Neumann HPH, Brauch B, McWhinney SR, Bender BU, Gimm O, Franke G, Schipper J, Klisch J, Altehöher C, Zerres K, Januszewicz A, Eng C 2002 Germline mutations in nonsyndromic pheochromocytoma. N Engl J Med 346:1459-1466
57. Neumann HPH, Pawlu C, Peçzkowska M, Bausch B, McWhinney SR, Muresan M, Buchta M, Franke G, Klisch J, Bley T, Hoegerle S, Boedeker CC, Opocher G, Schipper J, Januszewicz A, Eng C 2004 Distinct clinical features characterize paraganglioma syndromes associated with SDHB and SDHD mutations. JAMA 292:943-951
58. Schiavi F, Boedeker CC, Bausch B, Peçzkowska M, Fuentes-Gomez C, Strassburg T, Pawlu C, Buchta M, Saltzman M, Hoffman MM, Berlis A, Brink I, Cybulla M, Muresan M, Walter MM, Forer F, Välimäki M, Kawecki A, Szutkowski Z, Schipper J, Walz MK, Pigny P, Bauters C, Willet-Brozick JE, Baysal BE, Januszewicz A, Eng C, Opocher G, Neumann HP 2005 Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene. JAMA 294:2057-2063
59. Vanharanta S, Virta SR, Lehtonen R, Järvinen H, Mecklin J-P, Juhola M, Herva R, Nupponen NN, Aaltonen LA, Buchta M, Pezkowska M, Januszewicz A, Neumann HPH, McWhinney SR, Morrison CD, Eng C 2004 Early onset renal cell carcinoma as novel extra-paraganglial component of SDHB-associated heritable paraganglioma. Am J Hum Genet 74:153-159
60. Baysal BE, Willett-Brozick JE, Lawrence EC, Drovdlic CM, Savul SA, McLeod DR, Yee HA, Brackmann DE, Slattery III WH, Myers EN, Ferrell RE, Rubinstein WS 2002 Prevalence of SDHB, SDHC and SDHD in clinic patients with head and neck paragangliomas. J Med Genet 39:178-183
61. Benn DE, Gimenez-Roqueplo AP, Reilly JR, Bertherat J, Burgess J, Byth K, Croxson M, Dahia PL, Elston M, Gimm O, Henley D, Herman P, Murday V, Niccoli-Sire P, Pasieka JL, Rohmer V, Tucker K, Jeunemaitre X, Marsh DJ, Plouin PF, Robinson BG 2006 Clinical presentation and penetrance of pheochromocytoma/ paraganglioma syndromes. J Clin Endocrinol Metab 91:827-836
62. McWhinney SR, Pilarski R, Forrester S, Schneider M, Sarquis MM, Dias EP, Eng C 2004 Large germline deletions of mitochondrial complex II subunits SDHB and SDHD in hereditary paraganglioma. J Clin Endocrinol Metab 89:5694-5699
63. Cascon A, Landa I, Lopez-Jimenez E, Diez-Hernandez A, Buchta M, Montero-Conde C, Leskela S, Leandro-Garcia LJ, Leton R, Rodriguez-Antona C, Eng C, Neumann HP, Robledo M 5 December 2007 Molecular characterization of a common SDHB deletion in paraganglioma patients. J Med Genet 10.1136/jmg.2007. 054965
64. Perry CG, Young WF, McWhinney SR, Bei T, Stergiopoulos SG, Knudson RA, Ketterling RP, Eng C, Stratakis CA, Carney JA 2006 Functioning paraganglioma and gastrointestinal stromal tumor of the jejunum in three women: syndrome or coincidence. Am J Surg Pathol 30:42-49
65. Pasini B, McWhinney SR, Bei T, Matyakhina L, Stergiopoulos SG, Muchow M, Boikos S, Ferrando B, Pacak K, Assié G, Baudin E, Chompret A, Ellison JW, Briere JJ, Rustin P, Gimenez-Roquelpo A-P, Eng C, Carney JA, Stratakis CA 2008 Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations in the genes encoding succinate dehydrogenase subunits (SDHB, SDHC, SDHD). Eur J Hum Genet 16:79-88
66. Brouwers FM, Glasker S, Nave AF, Vortmeyer AO, Lubensky I, Huang S, Abu-Asab MS, Eisenhofer G, Weil RJ, Park DM, Linehan WM, Pacak K, Zhuang Z 2007 Proteomic profiling of von Hippel-Lindau syndrome and multiple endocrine neoplasia type 2 pheochromocytomas reveals different expression of chromogranin B. Endocr Relat Cancer 14:463-471
67. Welch TJ, Sheedy PF, Stephens DH, Johnson CM, Swensen SJ 1994 Percutaneous adrenal biopsy: review of a 10-year experience. Radiology 193:341-344
68. Vaclavik J, Stejskal D, Lacnak B, Lazarova M, Jedelsky L, Kadalova L, Janosova M, Frysak Z, Vleck P 2007 Free plasma metanephrines as a screening test for pheochromocytoma in low-risk patients. J Hypertens 25:1427-1431
69. Karhu A, Aaltonen LA 2007 Susceptibility to pituitary neoplasia related to MEN1, CDKN1B and AIP mutations. Hum Mol Genet 16:R73-R79
70. Carpten JD, Robbins CM, Villablanca A, Forsberg L, Presciuttini S, Bailey-Wilson J, Simonds WF, Gillanders EM, Kennedy AM, Chen JD, Agarwal SK, Sood R, Jones MP, Moses TY, Haven C, Petillo D, Leotela PD, Harding B, Cameron D, Pannett AA, Hoog A, Heath H, James-Newton LA, Robinson BG, Zarbo RJ, Cavaco BM, Wassif W, Perrier ND, Rosen IB, Kristoffersson U, Turnpenny PD, Farnebo LO, Besser GM, Jackson CE, Morreau H, Trent JM, Thakker RV, Marx SJ, Teh BT, Larsson C, Hobbs MR 2002 HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome. Nat Genet 32:676-680
71. Shattuck TM, Valimaki S, Obara T, Gaz RD, Clark OH, Shoback D, Wierman ME, Tojo K, Robbins CM, Carpten JD, Farnebo LO, Larsson C, Arnold A 2003 Somatic and germline mutations of the HRPT2 gene in sporadic parathyroid carcinoma. N Engl J Med 349:1722-1729
72. Juhlin CC, Villablanca A, Sandelin K, Haglund F, Nordenskjold M, Forsberg L, Branstorm R, Obara T, Arnold A, Larsson C, Hoog A 2007 Parafibromin immunoreactivity: its use as an additional diagnostic marker for parathyroid tumor classification. Endocr Relat Cancer 14:501-512