[Surgical management of hereditary medullary carcinoma of the thyroid in patients with "RET" proto-oncogene mutation].
The authors report their results in 64 individuals belonging to 11 families with MEN 2 and familial medullary carcinoma of thyroid (CMT) syndromes. They show amplification and restriction techniques, type, site and incidence of genetic alteration in the observed cases; besides they illustrate the adopted surgical management related to the mutation. They stress the concept that genetic test allows to detect the population with altered gene before laboratory or clinical evidence, with the great advantage to indicate an early surgical approach. If it is shown a multi-organ disease, as in one patient with CMT associated with bilateral pheocromocytoma, the two diseases must be treated during the same operative time.
Calbo
L
L
Cattedra di Chirurgia Generale, Scuola di Specializzazione in Chirurgia Generale 2a, Università degli Studi di Messina.
Spinelli
C
C
Lazzara
S
S
Melita
P
P
Miccoli
P
P
D000293:Adolescent; D000328:Adult; D018276:Carcinoma, Medullary / Q000235:genetics* / Q000601:surgery*; D002648:Child; D005260:Female; D005820:Genetic Testing; D006801:Humans; D008297:Male; D018761:Multiple Endocrine Neoplasia Type 1 / Q000235:genetics; D018813:Multiple Endocrine Neoplasia Type 2a / Q000235:genetics; D009154:Mutation; D000090063:Proto-Oncogene Mas; D011519:Proto-Oncogenes / Q000235:genetics*; D013964:Thyroid Neoplasms / Q000235:genetics* / Q000601:surgery*
Strategia chirurgica nel carcinoma midollare della tiroide ereditario in portatori di mutazione del proto-oncogene "RET".