Abstract
Three patients with a sporadic form of multiple endocrine neoplasia (MEN) IIb are presented. MEN IIb is the association of medullary carcinoma of the thyroid (MTC), pheochromocytoma and multiple mucosal neuromata.
The age at diagnosis and primary therapy of MTC was relatively late (8, 16, 18 years) although thyroid enlargement (two cases), typical marfanoid habitus (two cases) or multiple mucosal neuromata (one case) had been evident since early childhood. The diagnosis was confirmed by measurements of tumour markers like calcitonin (CT) and carcinoembryonic antigen (CEA) for MTC, measurements of vanillylmandelic acid for pheochromocytoma, evaluation of the thyroid gland by sonography, scintigraphy and fine needle biopsy, and investigation of the adrenals by computer tomography and meta-(I-131) iodobenzylguanidine (I-131-MIBG) scintigraphy.
After surgical treatment determinations of tumour markers confirmed relapses of MTC in all cases.
Early diagnosis of MEN IIb, which could be made by recognition of the typical clinical appearance, is of special importance because of the poor prognosis of MTC.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
Abbreviations
- MEN:
-
Multiple endocrine neoplasia
- MTC:
-
medullary carcinoma of the thyroid
- CT:
-
calcitonin
- CEA:
-
carcinoembryonic antigen
- VMA:
-
vanillylmandelic acid
- I-131 MIBG:
-
meta (I-131) iodobenzylguanidine
- MMN:
-
multiple mucosal neuroma syndrome
References
Block MA, Jackson CE, Tashjian AH (1978) Management of occult medullary thyroid carcinoma. Arch Surg 113:368–372
Carney JA, Sizemore GW, Tyce GM (1975) Bilateral adrenal medullary hyperplasia in multiple endocrine neoplasia, type 2. Mayo Clin Proc 50:3–10
Carney JA, Go VLW, Sizemore GW, Hayles AB (1976) Alimentary tract ganglioneuromatosis. N Engl J Med 295:1287–1291
Carney JA, Sizemore GW, Hayles AB (1979) C-cell disease of the thyroid gland in multiple endocrine neoplasia, type 2b. Cancer 44:2173–2183
Carney JA, Bianco AJ, Sizemore GW, Hayles AB (1981) Multiple endocrine neoplasia with sceletal manifestations. J Bone Joint Surg 63-A:405–410
Cerny JC, Jackson CE, Talpos GB, Yolt JB, Lee MW (1982) Pheochromocytoma in multiple endocrine neoplasia type II: An example of the two-hit theory of neoplasia. Surgery 92:849–852
Chabloz R, Cavin R, Burckhardt P, Anani P, Saegesser F (1982) Une variété rare de néoplasies polyendocriniennes le syndrome MEN IIb ou MEN III. Schweiz Med Wochenschr 112:842–852
Gagel RF, Melvin KGW, Tashjian AH, Miller HH, Feldmann ZT, Wolfe JJ, De Lellis RA, Cerviskinner S, Reichlin S (1975) Natural history of the familial medullary thyroid carcinoma-pheochromocytoma syndrome and the identification of preneoplastic stages by screening studies: a five year report. Trans Assoc Am Physicians 88:177–191
Gorlin RJ, Sedano HO, Vickers RA, Cervenka J (1968) Multiple mucosal neuromas, pheochromocytoma and medullary carcinoma of the thyroid—a syndrome. Cancer 22:293–299
Grün R, Eberle F (1981) Multiple endocrine neoplasia, type II (MEN II). In: Frick P et al (eds) Ergeb Inn Med Kinderheilkd 46:151–210
Khairi MRA, Dexter RN, Burzynski NJ, Johnston CC (1975) Mucosal neuroma, pheochromocytoma and medullary thyroid carcinoma: multiple endocrine neoplasia type 3. Medicine 54: 89–112
Nakajo M, Skapiro B, Copp J, Kal V, Gross MD, Sisson JC, Beierwalters WH (1983) The normal and abnormal distribution of the adreno medullary imaging agent m(-I-131) Iodobenzylguanidine (I-131 MIBG) in man: Evaluation by scintigraphy. Nucl Med 24:672–682
Netzloff ML, Garnica AD, Rodgers BM, Frias JL (1979) Medullary carcinoma of the thyroid in the multiple mucosal neuromas syndrome. Ann Clin Lab Sci 9:368–373
Norton JA, Lynn C, Froome BA, Farrel RE, Wells RN (1979) Multiple endocrine neoplasia type IIb. Surg Clin North Am 59: 109–119
Pearse AGE, Polack JM (1974) Endocrine tumors of neural crest origin neurolophomas, apudomas and the apud concept. Med Biol 52:3–18
Pearse AGE, Takor Takor T (1979) Embryology of the diffuse neuroendocrine system and its relationship to the common peptides. Fed Proc 38:2288–2294
Raue F, Bayer JM, Rahn KH, Herfarth C, Minne H, Ziegler R (1978) Hypercalcitoninaemia in patients with pheochromocytoma. Klin Wochenschr 56:697–701
Raue F, Schmidt-Gayk H, Ziegler R (1983) Tumormarker beim C-Zell-Carcinom (medullärem Schilddrüsencarcinom). Deutsch Med Wochenschr 108:283–287
Sipple JH (1961) The association of pheochromocytoma with carcinoma of the thyroid gland. Am J Med 31:163–166
Sisson JC, Frager MS, Valk TW, Gross MD, Swanson DP, Wieland DM, Tabes MC, Beierwalters WH, Thompson NW (1981) Scintigraphic localization of pheochromocytoma. N Engl J Med 305:12–16
Wells SA, Baylin SB, Johnsrude JS, Harrington DP, Mendelsohn G, Ontjes DJ, Cooper CW (1982) Thyroid venous catheterization on the early diagnosis of familial medullary thyroid carcinoma. Ann Surg 196:505–511
Wells SA, Ontjes DA, Cooper CW, Hennessy JF, Ellis GJ, McPherson HT, Sahiston DC (1975) The early diagnosis of medullary carcinoma of the thyroid gland in patients with multiple endocrine neoplasia type II. Ann Surg 182:362–370
Williams ED, Pollock DJ (1966) Multiple mucosal neuromata with endocrine tumors: a syndrome allied to von Recklinghausen's disease. J Pathol Bacteriol 91:71–77
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Frank, K., Raue, F., Gottswinter, J. et al. Importance of early diagnosis and follow-up in multiple endocrine neoplasia (MEN II B). Eur J Pediatr 143, 112–116 (1984). https://doi.org/10.1007/BF00445797
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF00445797