title: [Medullary thyroid carcinoma in children].
abstract: Medullary thyroid carcinoma (MTC) is rare in children. MTC is almost always inherited and occurs as part of a multiple endocrine neoplasia type 2A and B, due to germline mutation in the RET proto-oncogene. MTC in the pediatric population is most often diagnosed in the course of a familial genetic investigation. But when the child is the proband, a de novo mutation is most often founded. The main aim is to treat MTC before extrathyroidal extension occurs because when distant metastases are present, it is rarely curable. Treatment is based on total thyroidectomy with cervical lymph node dissection.
authors.affiliation: Institut Gustave-Roussy, Département de Médecine Nucléaire et d'Endocrinologie Oncologique, Faculté de Médecine Paris-Sud, 39 rue Camille-Desmoulins, 94805 Villejuif cedex, France.
authors.forename: Amandine
authors.initials: A
authors.lastname: Berdelou
authors.forename: Dana
authors.initials: D
authors.lastname: Hartl
authors.forename: Abir
authors.initials: A
authors.lastname: Al Ghuzlan
authors.forename: Haïtham
authors.initials: H
authors.lastname: Mirghani
authors.forename: Cécile
authors.initials: C
authors.lastname: Chougnet
authors.forename: Eric
authors.initials: E
authors.lastname: Baudin
authors.forename: Martin
authors.initials: M
authors.lastname: Schlumberger
authors.forename: Sophie
authors.initials: S
authors.lastname: Leboulleux
mesh_terms: D001478:Basal Cell Nevus Syndrome / Q000235:genetics; D018276:Carcinoma, Medullary / Q000175:diagnosis / Q000235:genetics / Q000473:pathology / Q000628:therapy; D002648:Child; D005817:Genetic Counseling; D005838:Genotype; D006801:Humans; D018813:Multiple Endocrine Neoplasia Type 2a / Q000235:genetics; D009154:Mutation / Q000235:genetics; D010641:Phenotype; D000090063:Proto-Oncogene Mas; D035583:Rare Diseases / Q000175:diagnosis / Q000235:genetics / Q000473:pathology / Q000628:therapy; D013964:Thyroid Neoplasms / Q000175:diagnosis / Q000235:genetics / Q000473:pathology / Q000628:therapy
keywords: hereditary disease; medullary thyroid carcinoma; multiple endocrine neoplasia