Diagnosis and therapy of sporadic and familial medullary thyroid carcinoma

Journal of Cancer Research and Clinical Oncology

Volumn 127, Issue 3, 2001, Pages 156-165

  Gimm, Oliver ^a   Sutter, Thomas ^a   Dralle, Henning ^a  

^a MARTIN LUTHER UNIVERSITY HALLE WITTENBERG   (Germany)

Author keywords

Diagnosis; Familial; Hereditary; Medullary thyroid carcinoma; MTC; Proto oncogene; RET; Sporadic; Therapy

Indexed keywords

CALCITONIN;

ASPIRATION BIOPSY; CALCITONIN BLOOD LEVEL; DIAGNOSTIC TEST; ECHOGRAPHY; FAMILIAL CANCER; LYMPHADENECTOMY; PREOPERATIVE EVALUATION; PRIORITY JOURNAL; REVIEW; SURGICAL TECHNIQUE; THYROID MEDULLARY CARCINOMA; THYROIDECTOMY;

ADOLESCENT; ADULT; CARCINOMA, MEDULLARY; CHILD; DIAGNOSIS, DIFFERENTIAL; GENETIC SCREENING; GENOTYPE; HUMANS; MIDDLE AGED; NEOPLASM RECURRENCE, LOCAL; PHENOTYPE; PROGNOSIS; THYROID NEOPLASMS;

EID: 0035034136     PISSN: 01715216     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004320000173     Document Type: Review

References (67)

1. Adalet I, Kocak M, Oguz H, Alagol F, Cantez S (1999) Determination of medullary thyroid carcinoma metastases by 201T1, 99Tcm(V)DMSA, 99Tcm-MIBI, and 99Tcm-tetrofosmin. Nucl Med Commun 20: 353-359
2. Barraclough BM, Barraclough BH (2000) Ultrasound of the thyroid and parathyroid glands. World J Surg 24: 158-165
3. Behr TM, Gratz S, Markus PM, Dunn RM, Hufner M, Schauer A, Fischer M, Munz DL, Becker H, Becker W (1997a) Anti-carcinoembryonic antigen antibodies versus somatostatin analogs in the detection of metastatic medullary thyroid carcinoma: are carcinoembryonic antigen and somatostatin receptor expression prognostic factors? Cancer 80: 2436-2457
4. Behr TM, Wulst E, Radetzky S, Blumenthal RD, Dunn RM, Gratz S, Rave-Frank M, Schmidberger H, Raue F, Becker W (1997b) Improved treatment of medullary thyroid cancer in a nude mouse model by combined radioimmunochemotherapy: doxorubicin potentiates the therapeutic efficacy of radiolabeled antibodies in a radioresistant tumor type. Cancer Res 57: 5309-5319
5. Bergholm U, Bergstrom R, Ekbom A (1997) Long-term follow-up of patients with medullary carcinoma of the thyroid. Cancer 79: 132-138
6. Busnardo B, Girelli ME, Simioni N, Nacamulli D, Busetto E (1984) Nonparallel patterns of calcitonin and carcinoembryonic antigen levels in the follow-up of medullary thyroid carcinoma. Cancer 53: 278-285
7. Carlson KM, Dou S, Chi D, Scavarda N, Toshima K, Jackson CE, Wells SA Jr, Goodfellow PJ, Donis-Keller H (1994) Single missense mutation in the tyrosine kinase catalytic domain of the RET protooncogene is associated with multiple endocrine neoplasia type 2B. Proc Nad Acad Sci USA 91: 1579-1583
8. Ceccherini I, Griseri P, Sancandi M, Patrone G, Bocciardi R, Hofstra R, Ravazzolo R, Romeo G, Devoto M (1999) Decreased frequency of a neutral sequence variant of the RET proto-oncogene in sporadic Hirschsprung diesease. Am J Hum Genet 65: A266
9. Collins BT, Cramer HM, Tabatowski K, Hearn S, Rarninhos A, Lampe H (1995) Fine-needle aspiration of medullary carcinoma of the thyroid. Cytomorphology, immunocytochemistry, and electron microscopy. Acta Cytol 39: 920-930
10. Donis-Keller H, Dou S, Chi D, Carlson KM, Toshima K, Lairmore TC, Howe JR, Moley JF, Goodfellow P, Wells SA Jr (1993) Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC. Hum Mol Genet 2: 851-856
11. Dottorini ME, Assi A, Sironi M, Sangalli G, Spreafico G, Colombo L (1996) Multivariate analysis of patients with medullary thyroid carcinoma. Prognostic significance and impact on treatment of clinical and pathologic variables. Cancer 77: 1556-1565
12. Dralle H, Gimm O (1996) Lymph node excision in thyroid carcinoma. Chirurg 67: 788-806
13. Dralle H, Damm I, Scheumann GF, Kotzerke J, Kupsch E, Geerlings H, Pichimayr R (1994) Compartment-oriented microdissection of regional lymph nodes in medullary thyroid carcinoma. Surg Today 24: 112-121
14. Dralle H, Gimm O, Simon D, Frank-Raue K, Gortz G, Niederle B, Wahl RA, Koch B, Walgenbach S, Hampel R, Ritter MM, Spelsberg F, Heiss A, Hinze R, Hoppner W (1998) Prophylactic thyroidectomy in 75 children and adolescents with hereditary medullary thyroid carcinoma: German and Austrian experience. World J Surg 22: 744-751
15. Eng C, Mulligan LM (1997) Mutations of the RET proto-oncogene in the multiple endocrine neoplasia type 2 syndromes, related sporadic tumours, and Hirschsprung disease. Hum Mutat 9: 97-109
16. Eng C, Smith DP, Mulligan LM, Nagai MA, Healey CS, Ponder MA, Gardner E, Scheumann GF, Jackson CE, Tunnacliffe A, et al (1994) 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 3: 237-241
17. Eng C, Clayton D, Schuffenecker I, Lenoir G, Cote G, Gagel RF, van Amstel HK, Lips CJ, Nishisho I, Takai SI, Marsh DJ, Robinson BG, Frank-Raue K, Raue F, Xue F, Noll WW, Romei C, Pacini F, Fink M, Niederle B, Zedenius J, Nordenskjold M, Komminoth P, Hendy GN, Mulligan LM, et al (1996a) The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis. JAMA 276: 1575-1579
18. Eng C, Mulligan LM, Healey CS, Houghton C, Frilling A, Raue F, Thomas GA, Ponder BA (1996b) Heterogeneous mutation of the RET proto-oncogene in subpopulations of medullary thyroid carcinoma. Cancer Res 56: 2167-2170
19. Frank-Raue K, Ziegler R, Raue F (1993) The use of octreotide in the treatment of medullary thyroid carcinoma. Horm Metab Res Suppl 27: 44-47
20. Frank-Raue K, Hopper W, Buhr H, Herfarth C, Ziegler R, Raue F (1996) Application of genetic screening in families with hereditary medullary thyroid carcinoma. Exp Clin Endocrinol Diabetes 104 [Suppl 4]: 108-110
21. Freyer G, Dazord A, Schlumberger M, Conte-Devoix B, Ligneau B, Trillet-Lenoir V, Lenoir GM (1999) Psychosocial impact of genetic testing in familial medullary-thyroid carcinoma: a multicentric pilot-evaluation. Ann Oncol 10: 87-95
22. Gasparoni P, Rubello D, Ferlin G (1997) Potential role of fluorine- 18-deoxyglucose (FDG) positron emission tomography (PET) in the staging of primitive and recurrent medullary thyroid carcinoma. J Endocrinol Invest 20: 527-530
23. Gill JR, Reyes-Mugica M, Iyengar S, Kidd KK, Touloukian RJ, Smith C, Keller MS, Genel M (1996) Early presentation of metastatic medullary carcinoma in multiple endocrine neoplasia. Type IIA: implications for therapy. J Pediatr 129: 459-464
24. Gimm O, Dralle H (1997) Reoperation in metastasizing medullary thyroid carcinoma: is a tumor stage-oriented approach justified? Surgery 122: 1124-1131
25. Gimm O, Dralle H (1999) C-cell cancer: prevention and treatment. Langenbecks Arch Surg 384: 16-23
26. Gimm O, Marsh DJ, Andrew SD, Frilling A, Dahia PL, Mulligan LM, Zajac JD, Robinson BG, Eng C (1997) Germline dinucleotide mutation in codon 883 of the RET proto-oncogene in multiple endocrine neoplasia type 2B without codon 918 mutation. J Clin Endocrinol Metab 82: 3902-3904
27. Gimm O, Ukkat J, Dralle H (1998) Determinative factors of biochemical cure after primary and reoperative surgery for sporadic medullary thyroid carcinoma. World J Surg 22: 562-568
28. Gimm O, Neuberg DS, Marsh DJ, Dahia PL, Hoang-Vu C, Raue F, Hinze R, Dralle H, Eng C (1999) Over-representation of a germline RET sequence variant in patients with sporadic medullary thyroid carcinoma and somatic RET codon 918 mutation. Oncogene 18: 1369-1373
29. Guilloteau D, Perdrisot R, Calmettes C, Baulieu JL, Lecomte P, Kaphan G, Milhaud G, Besnard JC, Jallet P, Bigorgne JC (1990) Diagnosis of medullary carcinoma of the thyroid (MCT) by calcitonin assay using monoclonal antibodies: criteria for the pentagastrin stimulation test in hereditary MCT. J Clin Endocrinol Metab 71: 1064-1067
30. Hazard JB, Hawk WA, Crile G (1959) Medullary (solid) carcinoma of the thyroid: a clinicopathologic entity. J Clin Endocrinol Metab 19: 152-161
31. Hofstra RM, Landsvater RM, Ceccherini I, Stulp RP, Stelwagen T, Luo Y, Pasini B, Hoppener JW, van Amstel HK, Romeo G, et al (1994) A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma. Nature 367: 375-376
32. Hoppner W, Ritter MM (1997) A duplication of 12 bp in the critical cysteine-rich domain of the RET proto-oncogene results in a distinct phenotype of multiple endocrine neoplasia type 2A. Hum Mol Genet 6: 587-590
33. Hoppner W, Dralle H, Brabant G (1998) Duplication of nine base pairs in the critical cysteine-rich domain of the RET protooncogene causes multiple endocrine neoplasia type 2A. Hum Mutat [Suppl 1]: S128-S130
34. Juweid M, Sharkey RM, Behr T, Swayne LC, Herskovic T, Pereira M, Rubin AD, Hanley D, Dunn R, Siegel J, Goldenberg DM (1996a) Radioimmunotherapy of medullary thyroid cancer with iodine-131-labeled anti-CEA antibodies. J Nucl Med 37: 905-911
35. Juweid M, Sharkey RM, Behr T, Swayne LC, Rubin AD, Herskovic T, Hanley D, Markowitz A, Dunn R, Siegel J, Kamal T, Goldenberg DM (1996b) Improved detection of medullary thyroid cancer with radiolabeled antibodies to carcinoembryonic antigen. J Clin Oncol 14: 1209-1217
36. Learoyd DL, Roach PJ, Briggs GM, Delbridge LW, Wilmshurst EG, Robinson BG (1997) Technetium-99m-sestamibi scanning in recurrent medullary thyroid carcinoma. J Nucl Med 38: 227-230
37. Lips CJM, Landsvater RM, Hoppener JWM, Geerdink RA, Blijham G, Jansen-Schillhorn van Veen JM, van Gils APG, de Witt MJ, Zewald RA, Berends MJH, Beemer FA, Brouwers-Smalbraak J, Jansen RPM, Ploos van Amstel HK, van Vroonhoven TJMV, Vroom TM (1994) Clinical screening as compared with DNA analysis in families with multiple endocrine neoplasia type 2A. N Engl J Med 331: 828-835
38. Lupoli G, Cascone E, Arlotta F, Vitale G, Celentano L, Salvatore M, Lombardi G (1996) Treatment of advanced medullary thyroid carcinoma with a combination of recombinant interferon alpha-2b and octreotide. Cancer 78: 1114-1118
39. Machens A, Gimm O, Ukkat J, Hinze R, Schneyer U, Dralle H (2000) Improved prediction of calcitonin normalization in medullary thyroid carcinoma patients by quantitative lymph node analysis. Cancer 88: 1909-1915
40. Mahler C, Verhelst J, de Longueville M, Harris A (1990) Long-term treatment of metastatic medullary thyroid carcinoma with the somatostatin analogue octreotide. Clin Endocrinol (Oxf), 33: 261-269
41. Marsh DJ, McDowall D, Hyland VJ, Andrew SD, Schnitzler M, Gaskin EL, Nevell DF, Diamond T, Delbridge L, Clifton-Bligh P, Robinson BG (1996) The identification of false positive responses to the pentagastrin stimulation test in RET mutation negative members of MEN 2A families. Clin Endocrinol (Oxf), 44: 213-220
42. Melvin KE, Tashjian AH Jr (1968) The syndrome of excessive thyrocalcitonin produced by medullary carcinoma of the thyroid. Proc Nad Acad Sci USA 59: 1216-1222
43. Michiels FM, Chappuis S, Caillou B, Pasini A, Talbot M, Monier R, Lenoir GM, Feunteun J, Billaud M (1997) Development of medullary thyroid carcinoma in transgenic mice expressing the RET protooncogene altered by a multiple endocrine neoplasia type 2A mutation. Proc Natl Acad Sci USA 94: 3330-3335
44. Moley JF, Wells SA, Dilley WG, Tisell LE (1993) Reoperation for recurrent or persistent medullary thyroid cancer. Surgery 114: 1090-1096
45. Moley JF, Dilley WG, DeBenedetti MK (1997) Improved results of cervical reoperation for medullary thyroid carcinoma. Ann Surg 225: 734-743
46. Mulligan LM, Gardner E, Smith BA, Mathew CG, Ponder BA (1993a) Genetic events in tumour initiation and progression in multiple endocrine neoplasia type 2. Genes Chromosomes Cancer 6: 166-177
47. Mulligan LM, Kwok JB, Healey CS, Elsdon MJ, Eng C, Gardner E, Love DR, Mole SE, Moore JK, Papi L, et al (1993b) Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. Nature 363: 458-460
48. Mulligan LM, Marsh DJ, Robinson BG, Schuffenecker I, Zedenius J, Lips CJ, Gagel RF, Takai SI, Noll WW, Fink M, et al (1995) Genotype-phenotype correlation in multiple endocrine neoplasia type 2: report of the International RET Mutation Consortium. J Intern Med 238: 343-346
49. Musholt TJ, Musholt PB, Dehdashti F, Moley JF (1997) Evaluation of fluorodeoxyglucose-positron emission tomographic scanning and its association with glucose transporter expression in medullary thyroid carcinoma and pheochromocytoma: a clinical and molecular study. Surgery 122: 1049-1061
50. Nguyen TD, Chassard JL, Lagarde P, Cutuli B, Le Fur R, Reme-Saumon M, Prevost B, Panis X, Verrelle P, Chaplain G (1992) Results of postoperative radiation therapy in medullary carcinoma of the thyroid: a retrospective study by the French Federation of Cancer Institutes - the Radiotherapy Cooperative Group. Radiother Oncol 23: 1-5
51. Nilsson O, Tisell LE, Jansson S, Ahlman H, Gimm O, Eng C (1999) Adrenal and extra-adrenal pheochromocytomas in a family with germline RET V804L mutation [letter]. JAMA 281: 1587-1588
52. Pacini F, Fontanelli M, Fugazzola L, Elisei R, Romei C, Di Coscio G, Miccoli P, Pinchera A (1994) Routine measurement of serum calcitonin in nodular thyroid diseases allows the preoperative diagnosis of unsuspected sporadic medullary thyroid carcinoma. J Clin Endocrinol Metab 78: 826-829
53. Petursson SR (1988) Metastatic medullary thyroid carcinoma. Complete response to combination chemotherapy with dacarbazine and 5-fluorouracil. Cancer 62: 1899-1903
54. Ponder BA, Ponder MA, Coffey R, Pembrey ME, Gagel RF, Telenius-Berg M, Semple P, Easton DF (1988) Risk estimation and screening in families of patients with medullary thyroid carcinoma. Lancet 1: 397-401
55. Raue F, Kotzerke J, Reinwein D, Schroder S, Roher HD, Deckart H, Hofer R, Ritter M, Seif F, Buhr H, et al (1993) Prognostic factors in medullary thyroid carcinoma: evaluation of 741 patients from the German Medullary Thyroid Carcinoma Register. Clin Investig 71: 7-12
56. Rieu M, Lame MC, Richard A, Lissak B, Sambort B, Vuong-Ngoc P, Berrod JL, Fombeur JP (1995) Prevalence of sporadic medullary thyroid carcinoma: the importance of routine measurement of serum calcitonin in the diagnostic evaluation of thyroid nodules. Clin Endocrinol (Oxf) 42: 453-460
57. Scherubl H, Raue F, Ziegler R (1990) Combination chemotherapy of advanced medullary and differentiated thyroid cancer. Phase II study. J Cancer Res Clin Oncol 116: 21-23
58. Scopsi L, Sampietro G, Boracchi P, Del Bo R, Gullo M, Placucci M, Pilotti S (1996) Multivariate analysis of prognostic factors in sporadic medullary carcinoma of the thyroid. A retrospective study of 109 consecutive patients. Cancer 78: 2173-2183
59. Shannon KE, Gimm O, Hinze R, Dralle H, Eng C (1999) Germline V804M mutation in th RET proto-oncogene in two apparently sporadic cases of TMC presenting in the seventh decade of life. J Endocr Genet 1: 39-45
60. Smith DP, Houghton C, Ponder BA (1997) Germline mutation of RET codon 883 in two cases of de novo MEN 2B. Oncogene 15: 1213-1217
61. Steiner AL, Goodman AD, Powers SR (1968) Study of a kindred with pheochromocytoma, medullary thyroid carcinoma, hyperparathyroidism, and Cushing's disease: multiple endocrine neoplasia type 2. Medicine (Baltimore) 47: 371-409
62. Trump DL, Mendelsohn G, Baylin SB (1979) Discordance between plasma calcitonin and tumor-cell mass in medullary thyroid carcinoma. N Engl J Med 301: 253-255
63. Ugur O, Kostakglu L, Guler N, Caner B, Uysal U, Elahi N, Ha liloglu M, Yuksel D, Aras T, Bayhan H, Bekdik C (1996) Comparison of 99mTc(V)-DMSA 201T1 and 99mTc-MIBI imaging in the follow-up of patients with medullary carcinoma of the thyroid. Eur J Nucl Med 23: 1367-1371
64. van Heerden JA, Grant CS, Gharib H, Hay ID, Ilstrup DM (1990) Long-term course of patients with persistent hypercalcitoninemia after apparent curative primary surgery for medullary thyroid carcinoma. Ann Surg 212: 395-401
65. Vierhapper H, Raber W, Biegimayer C, Kaserer K, Weinhausl A, Niederle B (1997) Routine measurement of plasma calcitonin in nodular thyroid diseases. J Clin Endocrinol Metab 82: 1589-1593
66. Wells SA Jr, Baylin SB, Gann DS, Farrell RE, Dilley WG, Preissig SH, Linehan WM, Cooper CW (1978) Medullary thyroid carcinoma: relationship of method of diagnosis to pathologic staging. Ann Surg 188: 377-383
67. Williams ED (1966) Histogenesis of medullary carcinoma of the thyroid. J Clin Pathol 19: 114-118