[Diagnosis and treatment of syndrome of multiple endocrine neoplasia type 2].
Since 1969 to 2000 twenty one patients from 16 families with syndrome of multiple endocrine neoplasia (MEN) type 2 were examined. Medullary cancer of the thyroid gland (MCTG) was diagnosed in 18 patients, pheochromocytoma--in 15 (in 13 of them--two-sided), primary hyperparathyroidism--in 2. In 9 patients from 5 families syndrome MEN 2 was confirmed genetically (mutation in codon 634 of 11th exon RET in 7 patients with MEN 2a and in codon 918 in 2 patients with MEN 2b). None of the patients had extraadrenal pheochromocytoma, in 9 (60%) patients multicentric tumors within one adrenal gland were diagnosed. All the 18 patients with MCTG underwent extrafascial thyroidectomy with removal of fat and lymph nodes of paratracheal zone, 9 patients--one-sided (6) or two-sided (3) removal of fat and lymph nodes of lateral triangle of neck. Prophylactic thyreoidectomy was performed in 11-year old patient with genetically verified MEN 2a and without topical data of MCTG, 2 patients of 3 and 19 years of age with genetically verified MEN 2 are to undergo prophylactic thyroidectomy. Prophylactic thyroidectomy is necessary in the presence of genetic disorders in members of families with MEN 2 despite absence of structural changes in thyroid gland. Level of basal and stimulated calcitonin may be used as marker of recurrence or metastatic growth only. In MEN 2 after organ-saving operation rate of true recurrence of tumor is high because of genetic damage of medullary layer of adrenal gland.
Kuznetsov
N S
NS
Bel'tsevich
D G
DG
Poliakova
E Iu
EIu
Vasil'ev
E V
EV
Nemtsova
M V
MV
D018276:Carcinoma, Medullary / Q000175:diagnosis / Q000601:surgery*; D002879:Chromosomes, Human, Pair 10; D018387:Codon, Initiator; D004701:Endocrine Gland Neoplasms / Q000175:diagnosis / Q000601:surgery*; D005260:Female; D006801:Humans; D008297:Male; D009377:Multiple Endocrine Neoplasia / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery*; D018813:Multiple Endocrine Neoplasia Type 2a / Q000175:diagnosis / Q000235:genetics / Q000601:surgery; D018814:Multiple Endocrine Neoplasia Type 2b / Q000175:diagnosis / Q000235:genetics / Q000601:surgery; D010673:Pheochromocytoma / Q000175:diagnosis / Q000601:surgery*; D011518:Proto-Oncogene Proteins / Q000378:metabolism; D011995:Recombination, Genetic; D013961:Thyroid Gland / Q000601:surgery
D018387:Codon, Initiator; D011518:Proto-Oncogene Proteins