Familial thyroid neoplasia: Impact of technological advances on detection and monitoring

Current Opinion in Endocrinology, Diabetes and Obesity

Volumn 17, Issue 5, 2010, Pages 425-431

  Tran, Theresa ^a,b   Gianoukakis, Andrew G ^a,b  

^a HARBOR UCLA MEDICAL CENTER   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

heritable malignancies; medullary thyroid carcinoma; multiple endocrine neoplasia; nonmedullary thyroid carcinoma

Indexed keywords

CALCITONIN; PENTAGASTRIN;

ASPIRATION BIOPSY; CARNEY COMPLEX; CELL DIFFERENTIATION; CELL MIGRATION; CHEMOLUMINESCENCE; COWDEN SYNDROME; FAMILIAL ADENOMATOUS POLYPOSIS; GENE MUTATION; GENETIC POLYMORPHISM; GENOTYPE PHENOTYPE CORRELATION; HEREDITY; HUMAN; MUTATIONAL ANALYSIS; NONHUMAN; PRIMARY HYPERPARATHYROIDISM; REVIEW; THYROID CANCER; WERNER SYNDROME;

ADENOMATOUS POLYPOSIS COLI; CALCITONIN; CARCINOMA; CARNEY COMPLEX; FEMALE; HAMARTOMA SYNDROME, MULTIPLE; HUMANS; MALE; MUTATION; NEOPLASTIC SYNDROMES, HEREDITARY; THYROID NEOPLASMS; WERNER SYNDROME;

EID: 77956261950     PISSN: 1752296X     EISSN: None     Source Type: Journal    
DOI: 10.1097/MED.0b013e32833dd19f     Document Type: Review

References (88)

1. Parkin DM, Bray F, Ferlay J, Pisani P. Global cancer statistics, 2002. CA Cancer J Clin 2005; 55:74-108.
2. Hayat MJ, Howlader N, Reichman ME, Edwards BK. Cancer statistics, trends, and multiple primary cancer analyses from the Surveillance, Epidemiology, and End Results (SEER) Program. Oncologist 2007; 12:20-37.
3. DeLellis RA, Lloyd RV, Heitz PU, Eng C. Pathology and genetics of tumours of endocrine organs. Lyon: IARC; 2004. pp. 1-320.
4. Williams ED. Histogenesis of medullary carcinoma of the thyroid. J Clin Pathol 1966; 19:114-118.
5. Williams ED. Diarrhoea and thyroid carcinoma. Proc R Soc Med 1966; 59:602-603.
6. Williams ED, Brown CL, Doniach I. Pathological and clinical findings in a series of 67 cases of medullary carcinoma of the thyroid. J Clin Pathol 1966; 19:103-113.
7. Pelizzo MR, Boschin IM, Bernante P, et al. Natural history, diagnosis, treatment and outcome of medullary thyroid cancer: 37 years experience on 157 patients. Eur J Surg Oncol 2007; 33:493-497.
8. Baloch ZW, Livolsi VA. Prognostic factors in well differentiated follicular-derived carcinoma and medullary thyroid carcinoma. Thyroid 2001; 11:637-645.
9. Paszko Z, Sromek M, Czetwertynska M, et al. The occurrence and the type of germline mutations in the RET gene in patients with medullary thyroid carcinoma and their unaffected kindred's from Central Poland. Cancer Invest 2007; 25:742-749.
10. Brandi ML, Gagel RF, Angeli A, et al. Guidelines for diagnosis and therapy of MEN type 1 and type 2. J Clin Endocrinol Metab 2001; 86:5658-5671.
11. Kloos RT, Eng C, Evans DB, et al. Medullary thyroid cancer: management guidelines of the American Thyroid Association. Thyroid 2009; 19:565-612.
12. Takahashi M, Ritz J, Cooper GM. Activation of a novel human transforming gene, ret, by DNA rearrangement. Cell 1985; 42:581-588.
13. Mulligan LM, Kwok JB, Healey CS, et al. Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. Nature 1993; 363:458-460.
14. Donis-Keller H, Dou S, Chi D, et al. Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC. Hum Mol Genet 1993; 2:851-856.
15. Eng C, Smith DP, Mulligan LM, et al. Point mutation within the tyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumours. Hum Mol Genet 1994; 3:237-241.
16. Carlson KM, Dou S, Chi D, et al. Single missense mutation in the tyrosine kinase catalytic domain of the RET protooncogene is associated with multiple endocrine neoplasia type 2B. Proc Natl Acad Sci\USA 1994; 91:1579-1583.
17. Hofstra RM, Landsvater RM, Ceccherini I, et al. A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2Band sporadic medullary thyroid carcinoma. Nature 1994; 367:375-376.
18. Eng C, Clayton D, Schuffenecker I, et al. The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis. JAMA 1996; 276:1575-1579.
19. Romei C, Elisei R, Pinchera A, et al. Somatic mutations of the ret proto-oncogene in sporadic medullary thyroid carcinoma are not restricted to exon 16 and are associated with tumor recurrence. J Clin Endocrinol Metab 1996; 81:1619-1622.
20. Elisei R, Cosci B, Romei C, et al. Prognostic significance of somatic RET oncogene mutations in sporadic medullary thyroid cancer: a 10-year follow-up study. J Clin Endocrinol Metab 2008; 93:682-687.
21. de Groot JW, Links TP, Plukker JT, et al. RET as a diagnostic and therapeutic target in sporadic and hereditary endocrine tumors. Endocr Rev 2006; 27:535-560.
22. Eng C. RET proto-oncogene in the development of human cancer. J Clin Oncol 1999; 17:380-393.
23. Marsh DJ, Learoyd DL, Andrew SD, et al. Somatic mutations in the RET proto-oncogene in sporadic medullary thyroid carcinoma. Clin Endocrinol (Oxf) 1996; 44:249-257.
24. Zedenius J, Larsson C, Bergholm U, et al. Mutations of codon 918 in the RET proto-oncogene correlate to poor prognosis in sporadic medullary thyroid carcinomas. J Clin Endocrinol Metab 1995; 80:3088-3090.
25. Wells SA Jr, Gosnell JE, Gagel RF, et al. Vandetanib for the treatment of patients with locally advanced or metastatic hereditary medullary thyroid cancer. J Clin Oncol 2010; 28:767-772.
26. Lam ET, Ringel MD, Kloos RT, et al. Phase II clinical trial of sorafenib in metastatic medullary thyroid cancer. J Clin Oncol 2010; 28:2323-2330.
27. Bevilacqua M, Dominguez LJ, Righini V, et al. Dissimilar PTH, gastrin, and calcitonin responses to oral calcium and peptones in hypocalciuric hypercalcemia, primary hyperparathyroidism, and normal subjects: a useful tool for differential diagnosis. J Bone Miner Res 2006; 21:406-412.
28. Krebs NF, Reidinger CJ, Robertson AD, Brenner M. Bone mineral density changes during lactation: maternal, dietary, and biochemical correlates. Am J Clin Nutr 1997; 65:1738-1746.
29. Ritchie LD, Fung EB, Halloran BP, et al. A longitudinal study of calcium homeostasis during human pregnancy and lactation and after resumption of menses. Am J Clin Nutr 1998; 67:693-701.
30. Prentice A, Jarjou LM, Stirling DM, et al. Biochemical markers of calcium and bone metabolism during 18 months of lactation in Gambian women accustomed to a low calcium intake and in those consuming a calcium supplement. J Clin Endocrinol Metab 1998; 83:1059-1066.
31. Becker KL, Nylen ES, White JC, et al. Clinical review 167: procalcitonin and the calcitonin gene family of peptides in inflammation, infection, and sepsis-a journey from calcitonin back to its precursors. J Clin Endocrinol Metab 2004; 89:1512-1525.
32. Whang KT, Steinwald PM, White JC, et al. Serum calcitonin precursors in sepsis and systemic inflammation. J Clin Endocrinol Metab 1998; 83:3296-3301.
33. Dandona P, Nix D, Wilson MF, et al. Procalcitonin increase after endotoxin injection in normal subjects. J Clin Endocrinol Metab 1994; 79:1605-1608.
34. d'Herbomez M, Leclerc L, Vantyghem MC, et al. Clinical evaluation of a new sensitive calcitonin assay: study of specificity. Clin Chim Acta 2001; 311:149-155.
35. Zink A, Blind E, Raue F. Determination of serum calcitonin by immunometric two-site assays in normal subjects and patients with medullary thyroid carcinoma. Eur J Clin Chem Clin Biochem 1992; 30:831-835.
36. Seth R, Motte P, Kehely A, et al. The development of a two-site enzyme immunometric assay (EIA) for calcitonin and its application in the measurement of the hormone in normal subjects, MTC-patients and postmenopausal women. Horm Metab Res Suppl 1989; 21:3-5.
37. Lynch C, Seth R, Bates DL, Self CH. Calcitonin determination by a fast and highly sensitive enzyme amplified immunoassay. J Immunoassay 1988; 9:179-192.
38. Vitale G, Ciccarelli A, Caraglia M, et al. Comparison of two provocative tests for calcitonin in medullary thyroid carcinoma: omeprazole vs pentagastrin. Clin Chem 2002; 48:1505-1510.
39. Karanikas G, Moameni A, Poetzi C, et al. Frequency and relevance of elevated calcitonin levels in patients with neoplastic and nonneoplastic thyroid disease and in healthy subjects. J Clin Endocrinol Metab 2004; 89:515-519.
40. Schuetz M, Duan H, Wahl K, et al. T lymphocyte cytokine production patterns in hashimoto patients with elevated calcitonin levels and their relationship to tumor initiation. Anticancer Res 2006; 26:4591-4596.
41. Niccoli P, Brunet P, Roubicek C, et al. Abnormal calcitonin basal levels and pentagastrin response in patients with chronic renal failure on maintenance hemodialysis. Eur J Endocrinol 1995; 132:75-81.
42. Borchhardt KA, Heinzl H, Gessl A, et al. Calcitonin concentrations in patients with chronic kidney disease and medullary thyroid carcinoma or C-cell hyperplasia. Kidney Int 2006; 70:2014-2020.
43. Yocum MW, Butterfield JH, Gharib H. Increased plasma calcitonin levels in systemic mast cell disease. Mayo Clin Proc 1994; 69:987-990.
44. Preissner CM, Dodge LA, O'Kane DJ, et al. Prevalence of heterophilic antibody interference in eight automated tumor marker immunoassays. Clin Chem 2005; 51:208-210.
45. Tommasi M, Brocchi A, Cappellini A, et al. False serum calcitonin high levels using anoncompetitive two-site IRMA.JEndocrinol Invest 2001; 24:356-360.
46. Leboeuf R, Langlois MF, Martin M, et al. 'Hook effect' in calcitonin immunor-adiometric assay in patients with metastatic medullary thyroid carcinoma: case report and review of the literature. J Clin Endocrinol Metab 2006; 91:361-364.
47. d'Herbomez M, Caron P, Bauters C, et al. Reference range of serum calcitonin levels in humans: influence of calcitonin assays, sex, age, and cigarette smoking. Eur J Endocrinol 2007; 157:749-755.
48. Basuyau JP, Mallet E, Leroy M, Brunelle P. Reference intervals for serum calcitonin in men, women, and children. Clin Chem 2004; 50:1828-1830.
49. Guyetant S, Rousselet MC, Durigon M, et al. Sex-related C cell hyperplasia in the normal human thyroid: a quantitative autopsy study. J Clin Endocrinol Metab 1997; 82:42-47.
50. Braganza JM, Herman K, Hine P, Kay G. The effect of pentagastrin (I.C.I. 50, 123) on peptic secretion in man. J Physiol 1979; 289:9-16.
51. Wells SA Jr, Baylin SB, Linehan WM, et al. Provocative agents and the diagnosis of medullary carcinoma of the thyroid gland. Ann Surg 1978; 188:139-141.
52. Elisei R, Bottici V, Luchetti F, et al. Impact of routine measurement of serum calcitonin on the diagnosis and outcome of medullary thyroid cancer: experience in 10 864 patients with nodular thyroid disorders. J Clin Endocrinol Metab 2004; 89:163-168.
53. Hahm JR, Lee MS, Min YK, et al. Routine measurement of serum calcitonin is useful for early detection of medullary thyroid carcinoma in patients with nodular thyroid diseases. Thyroid 2001; 11:73-80.
54. Cheung K, Roman SA, Wang TS, et al. Calcitonin measurement in the evaluation of thyroid nodules in the United States: a cost-effectiveness and decision analysis. J Clin Endocrinol Metab 2008; 93:2173-2180.
55. Cooper DS, Doherty GM, Haugen BR, et al. Revised American Thyroid Association management guidelines for patients with thyroid nodules and differentiated thyroid cancer. Thyroid 2009; 19:1167-1214.
56. Machens A, Schneyer U, Holzhausen HJ, Dralle H. Prospects of remission in medullary thyroid carcinoma according to basal calcitonin level. J Clin En-docrinol Metab 2005; 90:2029-2034.
57. Stepanas AV, Samaan NA, Hill CS Jr, Hickey RC. Medullary thyroid carcinoma: importance of serial serum calcitonin measurement. Cancer 1979; 43:825-837.
58. Barbet J, Campion L, Kraeber-Bodere F, Chatal JF. Prognostic impact of serum calcitonin and carcinoembryonic antigen doubling-times in patients with medullary thyroid carcinoma. J Clin Endocrinol Metab 2005; 90:6077-6084.
59. Engelbach M, Gorges R, Forst T, et al. Improved diagnostic methods in the follow-up of medullary thyroid carcinoma by highly specific calcitonin measurements. J Clin Endocrinol Metab 2000; 85:1890-1894.
60. Galanti MR, Ekbom A, Grimelius L, Yuen J. Parental cancer and risk of papillary and follicular thyroid carcinoma. Br J Cancer 1997; 75:451-456.
61. Pal T, Vogl FD, Chappuis PO, et al. Increased risk for nonmedullary thyroid cancer in the first degree relatives of prevalent cases of nonmedullary thyroid cancer: a hospital-based study. J Clin Endocrinol Metab 2001; 86:5307-5312.
62. Ron E, Kleinerman RA, Boice JD Jr, et al. A population-based case-control study of thyroid cancer. J Natl Cancer Inst 1987; 79:1-12.
63. Goldgar DE, Easton DF, Cannon-Albright LA, Skolnick MH. Systematic population-based assessment of cancer risk in first-degree relatives of cancer probands. J Natl Cancer Inst 1994; 86:1600-1608.
64. Hemminki K, Dong C. Familial relationships in thyroid cancer by histo-pathological type. Int J Cancer 2000; 85:201-205.
65. Loh KC. Familial nonmedullary thyroid carcinoma: a meta-review of case series. Thyroid 1997; 7:107-113.
66. Malchoff CD, Malchoff DM. Familial nonmedullary thyroid carcinoma. Cancer Control 2006; 13:106-110.
67. Hou P, Xing M. Absence of germline mutations in genes within the MAP kinase pathway in familial nonmedullary thyroid cancer. Cell Cycle 2006; 5:2036-2039.
68. Weber F, Eng C. Update on the molecular diagnosis of endocrine tumors: toward-omics-based personalized healthcare? J Clin Endocrinol Metab 2008; 93:1097-1104.
69. Bignell GR, Canzian F, Shayeghi M, et al. Familial nontoxic multinodular thyroid goiter locus maps to chromosome 14q but does not account for familial nonmedullary thyroid cancer. Am J Hum Genet 1997; 61:1123-1130.
70. Canzian F, Amati P, Harach HR, et al. A gene predisposing to familial thyroid tumors with cell oxyphilia maps to chromosome 19p13.2. Am J Hum Genet 1998; 63:1743-1748.
71. Malchoff CD, Sarfarazi M, Tendler B, et al. Papillary thyroid carcinoma associated with papillary renal neoplasia: genetic linkage analysis of a distinct heritable tumor syndrome. J Clin Endocrinol Metab 2000; 85:1758-1764.
72. Cavaco BM, Batista PF, Martins C, et al. Familial nonmedullary thyroid carcinoma (FNMTC): analysis of fPTC/PRN, NMTC1, MNG1 and TCO susceptibility loci and identification of somatic BRAF and RAS mutations. Endocr Relat Cancer 2008; 15:207-215.
73. McKay JD, Lesueur F, Jonard L, et al. Localization of a susceptibility gene for familial nonmedullary thyroid carcinoma to chromosome 2q21. Am J Hum Genet 2001; 69:440-446.
74. He H, Nagy R, Liyanarachchi S, et al. A susceptibility locus for papillary thyroid carcinoma on chromosome 8q24. Cancer Res 2009; 69:625-631.
75. Suh I, Filetti S, Vriens MR, et al. Distinct loci on chromosome 1q21 and 6q22 predispose to familial nonmedullarythyroid cancer: aSNParray-based linkage analysis of 38 families. Surgery 2009; 146:1073-1080.
76. Cetta F, Montalto G, Gori M, et al. Germline mutations of the APC gene in patients with familial adenomatous polyposis-associated thyroid carcinoma: results from a European cooperative study. J Clin Endocrinol Metab 2000; 85:286-292.
77. Cetta F, Curia MC, Montalto G, et al. Thyroid carcinoma usually occurs in patients with familial adenomatous polyposis in the absence of biallelic inactivation of the adenomatous polyposis coli gene. J Clin Endocrinol Metab 2001; 86:427-432.
78. Luk GD. Diagnosis and therapy of hereditary polyposis syndromes. Gastro-enterologist 1995; 3:153-167.
79. Powell SM, Petersen GM, Krush AJ, et al. Molecular diagnosis of familial adenomatous polyposis. N Engl J Med 1993; 329:1982-1987.
80. Giardiello FM, Brensinger JD, Petersen GM, et al. The use and interpretation of commercial APC gene testing for familial adenomatous polyposis. N Engl J Med 1997; 336:823-827.
81. Petersen GM, Francomano C, Kinzler K, Nakamura Y. Presymptomatic direct detection of adenomatous polyposis coli (APC) gene mutations in familial adenomatous polyposis. Hum Genet 1993; 91:307-311.
82. Zhou XP, Waite KA, Pilarski R, et al. 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 2003; 73:404-411.
83. Marsh DJ, Coulon V, Lunetta KL, et al. Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation. Hum Mol Genet 1998; 7:507-515.
84. Stratakis CA, Courcoutsakis NA, Abati A, et al. Thyroid gland abnormalities in patients with the syndrome of spotty skin pigmentation, myxomas, endocrine overactivity, and schwannomas (Carney complex). J Clin Endocrinol Metab 1997; 82:2037-2043.
85. Harach HR, Soubeyran I, Brown A, et al. Thyroid pathologic findings in patients with Cowden disease. Ann Diagn Pathol 1999; 3:331-340.
86. Starink TM, van DV, Arwert F, et al. The Cowden syndrome: a clinical and genetic study in 21 patients. Clin Genet 1986; 29:222-233.
87. Huang S, Lee L, Hanson NB, et al. The spectrum of WRN mutations in Werner syndrome patients. Hum Mutat 2006; 27:558-567.
88. Ishikawa Y, Sugano H, Matsumoto T, et al. Unusual features of thyroid carcinomas in Japanese patients with Werner syndrome and possible genotype-phenotype relations to cell type and race. Cancer 1999; 85:1345-1352.