New era: prophylactic surgery for patients with multiple endocrine neoplasia-2a.
ANZ J Surg
; 76(7): 586-90, 2006 Jul.
Article
em En
| MEDLINE
| ID: mdl-16813623
ABSTRACT
BACKGROUND:
The surgical management of patients with multiple endocrine neoplasia-2A (MEN-2A) continues to evolve with specific genotype-phenotype correlations allowing for a more tailored approach. In this study, we report the surgical management of one of the largest MEN-2A families with a rearranged during transfection (RET) codon 804 mutation.METHOD:
This is a cohort study comprising all at-risk kindred within a single known MEN-2A family. Prophylactic total thyroidectomy with lymph node dissection was recommended to all mutation carriers aged 5 years and older.RESULTS:
There were a total of 48 at-risk individuals in the MEN-2A kindred, with 22 patients undergoing thyroidectomy after appropriate preoperative evaluation. A total of 9 patients had medullary thyroid cancer including 5 with a normal preoperative calcitonin level. A total of 11 patients had C-cell hyperplasia and 7 showed histological evidence of parathyroid disease. Only the index case had a phaeochromocytoma.CONCLUSIONS:
Genetic testing for germline mutations in the RET proto-oncogene has allowed precise identification of affected RET carriers and provided the opportunity for prophylactic or 'preclinical' surgery to treat and in fact to prevent medullary thyroid cancer. This concept of prophylactic surgery based on a genetic test is likely to be applied more widely as the tools of molecular biology advance.
Buscar no Google
Bases de dados:
MEDLINE
Assunto principal:
Tireoidectomia
/
Neoplasias da Glândula Tireoide
/
Carcinoma
/
Neoplasia Endócrina Múltipla Tipo 2a
Tipo de estudo:
Etiology_studies
/
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Limite:
Adolescent
/
Adult
/
Child
/
Female
/
Humans
/
Male
/
Middle aged
Idioma:
En
Revista:
ANZ J Surg
Ano de publicação:
2006
Tipo de documento:
Article
País de afiliação:
Austrália