Diagnostic and surgical dilemmas in hereditary medullary thyroid carcinoma

Laryngoscope

Volumn 119, Issue 7, 2009, Pages 1303-1311

  Allen, Shawn M ^a   Bodenner, Donald ^b,c   Suen, James Y ^a   Richter, Gresham T ^a,d  

^a Department of Otolaryngology Head and Neck Surgery ^*  (United States)

^b UNIVERSITY OF ARKANSAS FOR MEDICAL SCIENCES   (United States)

^c CENTRAL ARKANSAS VETERANS HEALTHCARE SYSTEM   (United States)

^d ARKANSAS CHILDREN S HOSPITAL   (United States)

Author keywords

Diagnosis; Dilemmas; Familial medullar thyroid carcinoma; Hereditary medullary thyroid carcinoma; Medullary thyroid carcinoma; Therapy

Indexed keywords

PROTEIN RET;

ADULT; ANAMNESIS; ARTICLE; CANCER DIAGNOSIS; CASE REPORT; CLINICAL FEATURE; FAMILIAL CANCER; GENE MUTATION; HUMAN; HUMAN TISSUE; MALE; NEEDLE BIOPSY; PHYSICAL EXAMINATION; PRIORITY JOURNAL; THYROID MEDULLARY CARCINOMA; THYROIDECTOMY;

BIOPSY, FINE-NEEDLE; CALCITONIN; CARCINOMA, MEDULLARY; DIAGNOSIS, DIFFERENTIAL; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MIDDLE AGED; MULTIPLE ENDOCRINE NEOPLASIA TYPE 2A; PROTO-ONCOGENE PROTEINS C-RET; THYROID NEOPLASMS; THYROIDECTOMY;

EID: 67949118637     PISSN: 0023852X     EISSN: None     Source Type: Journal    
DOI: 10.1002/lary.20299     Document Type: Article

References (67)

1. Ponder BA, Ponder MA, Coffey R., et al. Risk estimation and screening in families of patients with medullary thyroid carcinoma. Lancet 1988;l:397-401.
2. Lips CJ, Landsvater RM, Hoppener JW. et al. Clinical screening as compared with DNA analysis in families with multiple endocrine neoplasia type 2A. N Engl J Med 1994; 331:828-835.
3. Dabir T., Hunter SJ, Russell CF, McCall D., Morrison PJ. The RET mutation E768D confers a late-onset familial medullary thyroid carcinoma-only phenotype with incomplete penetrance: implications for screening and management of carrier status. Fam Cancer 2006; 5: 201-204.
4. White ML, Doherty GM. Multiple endocrine neoplasia. Surg Oncol Clin N Am 2008; 17:439-459, x.
5. Szinnai G., Meier C., Komminoth P., Zumsteg UW. Review of multiple endocrine neoplasia type 2A in children: therapeutic results of early thyroidectomy and prognostic value of codon analysis. Pediatrics 2003; 111:E132-E139.
6. 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.
7. 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.
8. Yip L., Cote GJ, Shapiro SE, et al. Multiple endocrine neoplasia type 2: evaluation of the genotype-phenotype relationship. Arch Surg 2003; 138:409-416; discussion 416.
9. Gimm O., Ukkat J., Niederle BE, et al. Timing and extent of surgery in patients with familial medullary thyroid carcinoma/multiple endocrine neoplasia 2A-related RET mutations not affecting codon 634. World J Surg 2004; 28: 1312-1316.
10. Smallridge RC, Bourne K., Pearson BW, Van Heerden JA, Carpenter PC, Young WF. Cushing's syndrome due to medullary thyroid carcinoma: diagnosis by proopiomelanocortin messenger ribonucleic acid in situ hybridization. J Clin Endocrinol Metab 2003; 88:4565-4568.
11. Pellegriti G., Belfiore A., Giuffrida D., Lupo L., Vigneri R. Outcome of differentiated thyroid cancer in Graves' patients. J Clin Endocrinol Metab 1998; 83:2805-2809.
12. Modigliani E., Cohen R., Campos JM, et al. Prognostic factors for survival and for biochemical cure in medullary thyroid carcinoma: results in 899 patients. The GETC Study Group. Groupe d'etude des tumeurs a calcitonine. Clin Endocrinol 1998; 48:265-273.
13. Brain SD, Tippins JR, Morris HR, Maclntyre I., Williams TJ. Potent vasodilator activity of calcitonin gene-related peptide in human skin. J Invest Dermatol 1986; 87: 533-536.
14. Hanna FW, Ardill JE, Johnston CF, et al. Regulatory peptides and other neuroendocrine markers in medullary carcinoma of the thyroid. J Endocrinol 1997; 152:275-281.
15. Forrest CH, Frost FA, de Boer WB, Spagnolo DV, Whitaker D., Sterrett BF. Medullary carcinoma of the thyroid: accuracy of diagnosis of fine-needle aspiration cytology. Cancer 1998; 84:295-302.
16. Papaparaskeva K., Nagel H., Droese M. Cytologic diagnosis of medullary carcinoma of the thyroid gland. Diagn Cytopathol 2000; 22:351-358.
17. Bhanot P., Yang J., Schnadig VJ, Logrono R. Role of FNA cytology and immunochemistry in the diagnosis and management of medullary thyroid carcinoma: report of six cases and review of the literature. Diagn Cytopathol 2007; 35:285-292.
18. Pacini F., Fontanelli M., Fugazzola L., et al. Routine measurement of serum calcitonin in nodular thyroid diseases allows the preoperative diagnosis of unsuspected sporadic medullary thyroid carcinoma. J Clin Endocrinol Metab 1994; 78:826-829; comment 824-825.
19. Niccoli P., Wion-Barbot N., Caron P., et al. Interest of routine measurement of serum calcitonin: study in a large series of thyroidectomized patients. The French Medullary Study Group. J Clin Endocrinol Metab 1997; 82:338-341; comment 335-337.
20. Ozgen AG, Hamulu F., Bayraktar F., et al. Evaluation of routine basal serum calcitonin measurement for early diagnosis of medullary thyroid carcinoma in seven hundred seventy-three patients with nodular goiter. Thyroid 1999; 9:579-582.
21. 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.
22. Giard RW, Hermans J. Use and accuracy of fine-needle aspiration cytology in histologically proven thyroid carcinoma: an audit using a national nathology database. Cancer 2000; 90:330-334.
23. Bugalho MJ, Santos JR, Sobrinho L. Preoperative diagnosis of medullary thyroid carcinoma: fine needle aspiration cytology as compared with serum calcitonin measurement. J Surg Oncol 2005; 91:56-60.
24. Rossi ED, Raffaelli M., Mule A., et al. Relevance of immunocytochemistry on thin-layer cytology in thyroid lesions suspicious for medullary carcinoma: a case-control study. Appl Immunohistochem Mol Morphol 2008; 16: 548-553.
25. Bugalho MJ, Frade JP, Santos JR, Limbert E., Sobrinho L. Molecular analysis of the RET proto-oncogene in patients with sporadic medullary thyroid carcinoma: a novel point mutation in the extracellular cysteine-rich domain. Eur J Endocrinol 1997; 136:423-426.
26. Takano T., Miyauchi A., Matsuzuka F., et al. Preoperative diagnosis of medullary thyroid carcinoma by RT-PCR using RNA extracted from leftover cells within a needle used for fine needle aspiration biopsy. J Clin Endocrinol Metab 1999; 84:951-955.
27. Sippel RS, Kunnimalaiyaan M., Chen H. Current management of medullary thyroid cancer. Oncologist 2008; 13: 539-547.
28. Kudo T., Miyauchi A., Ito Y., Takamura Y., Amino N., Hirokawa M. Diagnosis of medullary thyroid carcinoma by calcitonin measurement in fine-needle aspiration biopsy specimens. Thyroid 2007; 17:635-638.
29. Gill JR, Reyes-Mugica M., Iyengar S., et al. Early presentation of metastatic medullary carcinoma in multiple endocrine neoplasia, type IIA: implications for therapy. J Pediatr 1996; 129:459-464.
30. Marsh DJ, Andrew SD, Eng C., et al. Germline and somatic mutations in an oncogene: RET mutations in inherited medullary thyroid carcinoma. Cancer Res 1996; 56: 1241-1243.
31. Olson JE, Hughes J., Alpern HD. Family members of patients with sporadic medullary thyroid carcinoma must be screened for hereditary disease. Surgery 1992; 112: 1074-1078; discussion 1078-1079.
32. Elisei R., Romei C., Cosci B., et al. RET genetic screening in patients with medullary thyroid cancer and their relatives: experience with 807 individuals at one center. J Clin Endocrinol Metab 2007; 92:4725-4729.
33. Henry JF, Denizot A., Puccini M., et al. Latent subclinical medullary thyroid carcinoma: diagnosis and treatment. World J Surg 1998; 22:752-756; discussion 756-757.
34. Mirallie E., Iacobone M., Sebag F., Henry JF. Results of surgical treatment of sporadic medullary thyroid carcinoma following routine measurement of serum calcitonin. Eur J Surg Oncol 2004; 30:790-795.
35. 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.
36. Rieu M., Lame MC, Richard A., et al. Prevalence of sporadic medullary thyroid carcinoma: the importance of routine measurement of serum calcitonin in the diagnostic evaluation of thyroid nodules. Clin Endocrinol (Oxf) 1995; 42: 453-460.
37. Iacobone M., Niccoli-Sire P., Sebag F., De Micco C., Henry JF. Can sporadic medullary thyroid carcinoma be biochemically predicted? Prospective analysis of 66 operated patients with elevated serum calcitonin levels. World J Surg 2002; 26:886-890.
38. Cheung K., Roman SA, Wang TS, Walker HD, Sosa JA. 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.
39. Machens A., Niccoli-Sire P., Hoegel J., et al. Early malignant progression of hereditary medullary thyroid cancer. N Engl J Med 2003; 349:1517-1525.
40. 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.
41. Machens A., Dralle H. Genotype-phenotype based surgical concept of hereditary medullary thyroid carcinoma. World J Surg 2007; 31:957-968.
42. Lewis CE, Yeh MW Inherited endocrinopathies: an update. Mol Genet Metab 2008; 94:271-282.
43. Kouvaraki MA, Shapiro SE, Perrier ND, et al. RET protooncogene: a review and update of genotype-phenotype correlations in hereditary medullary thyroid cancer and associated endocrine tumors. Thyroid 2005; 15: 531-544.
44. Dralle H., Damm I., Scheumann GF, et al. Compartment-oriented microdissection of regional lymph nodes in medullary thyroid carcinoma. Surg Today 1994; 24:112-121.
45. Ball DW Medullary thyroid cancer: monitoring and therapy. Endocrinol Metab Clin North Am 2007; 36:823-837, viii.
46. Ukkat J., Gimm O., Brauckhoff M., Bilkenroth U., Dralle H. Single center experience in primary surgery for medullary thyroid carcinoma. World J Surg 2004; 28:1271-1274.
47. Machens A., Hauptmann S., Dralle H. Prediction of lateral lymph node metastases in medullary thyroid cancer. Br J Surg 2008; 95:586-591.
48. Gosnell JE, Clark OH. Surgical approaches to thyroid tumors. Endocrinol Metab Clin North Am 2008; 37: 437-455, ×.
49. Oskam IM, Hoebers F., Balm AJ, et al. Neck management in medullary thyroid carcinoma. Eur J Surg Oncol 2008; 34:71-76.
50. Scollo C., Baudin E., Travagli JP, et al. Rationale for central and bilateral lymph node dissection in sporadic and hereditary medullary thyroid cancer. J Clin Endocrinol Metab 2003; 88:2070-2075.
51. Machens A., Holzhausen HJ, Dralle H. Prediction of mediastinal lymph node metastasis in medullary thyroid carcinoma. Br J Surg 2004; 91:709-712.
52. de Groot JW, Links TP, Sluiter WJ, Wolffenbuttel BH, Wiggers T., Plukker JT. Locoregional control in patients with palpable medullary thyroid cancer: results of standardized compartment-oriented surgery. Head Neck 2007; 29: 857-863.
53. Fialkowski E., DeBenedetti M., Moley J. Long-term outcome of reoperations for medullary thyroid carcinoma. World J Surg 2008; 32:754-765.
54. Fleming JB, Lee JE, Bouvet M., et al. Surgical strategy for the treatment of medullary thyroid carcinoma. Ann Surg 1999; 230:697-707.
55. Moley JF, Debenedetti MK, Dilley WG, Tisell LE, Wells SA. Surgical management of patients with persistent or recurrent medullary thyroid cancer. J Intern Med 1998; 243:521-526.
56. Jimenez C., Hu MI, Gagel RF. Management of medullary thyroid carcinoma. Endocrinol Metab Clin North Am 2008; 37:481-496, x-xi.
57. Rendl G., Manzl M., Hitzl W., Sungler P., Pirich C. Long-term prognosis of medullary thyroid carcinoma. Clin Endocrinol (Oxf) 2008; 69:497-505.
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. 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.
60. Roman S., Lin R., Sosa JA. Prognosis of medullary thyroid carcinoma: demographic, clinical, and pathologic predictors of survival in 1252 cases. Cancer 2006; 107: 2134-2142.
61. Machens A., Hofmann C., Hauptmann S., Dralle H. Locoregional recurrence and death from medullary thyroid carcinoma in a contemporaneous series: 5-year results. Eur J Endocrinol 2007; 157:85-93.
62. de Groot JW, Plukker JT, Wolffenbuttel BH, Wiggers T., Sluiter WJ, Links TP. Determinants of life expectancy in medullary thyroid cancer: age does not matter. Clin Endocrinol (Oxf) 2006; 65:729-736.
63. Franc S., Niccoli-Sire P., Cohen R., et al. Complete surgical lymph node resection does not prevent authentic recurrences of medullary thyroid carcinoma. Clin Endocrinol (Oxf) 2001; 55:403-409.
64. Kameyama K., Takami H. Medullary thyroid carcinoma: nationwide Japanese survey of 634 cases in 1996 and 271 cases in 2002. Endocr J 2004; 51:453-456.
65. Cupisti K., Wolf A., Raffel A., et al. Long-term clinical and biochemical follow-up in medullary thyroid carcinoma: a single institution's experience over 20 years. Ann Surg 2007; 246:815-821.
66. Gimm O., Sutter T., Dralle H. Diagnosis and therapy of sporadic and familial medullary thyroid carcinoma. J Cancer Res Clin Oncol 2001; 127:156-165.
67. 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.