[Usefulness of RET proto-oncogene in the diagnosis of hereditary-type medullary carcinoma of the thyroid. Correlation with surgical findings].
In about 25% of cases medullary thyroid carcinoma (MTC) is hereditary. In this group is possible to detect germline point mutations of the RET proto-oncogene in about 95% of the studied cases. The purpose of the present paper is to confirm the value of the RET in the screening of the hereditary MTC. We studied 43 subjects at risk for a Multiple Endocrine Neoplasia Type 2A Syndrome. RET analysis was positive for MEN 2A in 22 subjects. Fifteen of the 22 have undergone a total thyroidectomy at our facility. Histopathological study of the surgical specimens confirmed the presence of a MTC in all the cases. According with our experience. RET analysis is a 100% sensitive and specific method of hereditary MTC screening, and we think it has obvious advantages over the calcitonin tests in technical, economic and ethic aspects.
Servicio de Otorrinolaringología, Hospital General de Elda. med013249@nacom.es
M
M
Carreño
J
J
Girbés
R
R
Malluguiza
S
S
Serrano
X
X
Matias-Guiu
J
J
Tudela
R
R
Alfayate
H
H
Lagarda
D000293:Adolescent; D000328:Adult; D018276:Carcinoma, Medullary / Q000175:diagnosis* / Q000235:genetics* / Q000601:surgery; D002648:Child; D029721:Drosophila Proteins; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D000090063:Proto-Oncogene Mas; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics*; D012189:Retrospective Studies; D013964:Thyroid Neoplasms / Q000175:diagnosis* / Q000235:genetics* / Q000601:surgery
D029721:Drosophila Proteins; C000715470:MAS1 protein, human; D000090063:Proto-Oncogene Mas; D011518:Proto-Oncogene Proteins; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases; C416649:Ret protein, Drosophila