title: Prophylactic thyroidectomy in MEN 2A syndrome: experience in a single center.
abstract: BACKGROUND
  Genetic study of the RET proto-oncogene has modified the management, treatment, and prognosis of medullary thyroid carcinoma (MTC), multiple endocrine neoplasia 2A (MEN 2A), for patients with less advanced tumor stages. Classically, the diagnosis was based on an increase in basal and poststimulus peak calcitonin (bCT and pCT). Prophylactic thyroidectomy, based on results of genetic testing, may reduce recurrences in MTC.
  
  
  METHODS
  Of 82 MTC (MEN 2A) patients genetically diagnosed and surgically treated at our center, 22 received a prophylactic thyroidectomy (RET +, bCT and pCT with normal values and asymptomatic). We analyzed age, gender, phenotype, RET mutation, cervical ultrasound, laboratory tests (bCT, pCT, and CEA), surgery, histologic data, TNM, and followup.
  
  
  RESULTS
  The 22 patients belonged to 8 families with MTC (MEN 2A). Mean age was 15.2 years (range 5 to 36 years). The RET mutation in 21 patients was Cys-->Tyr and in the remaining patient both in codon 634 in exon 11. The median values of bCT and pCT were 38 pg/mL (range < 15 to 75 pg/mL) and 148.5 pg/mL (range < 15 to 250 pg/mL), respectively. Total thyroidectomy was performed in 8 patients (age < or = 10 years) and associated central neck dissection in 14 patients (age> 10 years). Histologic study showed 7 C-cell hyperplasias and 15 MTCs (8 bilateral); the median size was 0.2 cm (range < 0.1 to 0.7cm); 1 patient had metastatic adenopathies. According to TNM, 7 were stage 0, 14 were stage I, and 1 was stage III. Postsurgery bCT and pCT values were normal in all patients, with a curative rate of 100%. MTC patients compared with C-cell hyperplasia patients were older on average, had higher mean bCT, mean pCT, and mean CEA.
  
  
  CONCLUSIONS
  Prophylactic thyroidectomy based on genetic testing allows identification and treatment of patients at an early stage of the disease and decreases recurrence rates. pCT values above the upper limit of normal may be markers for the presence of MTC and should be considered in selecting operative procedures for these patients.
authors.affiliation: Department of Surgery, Virgen de la Arrixaca Hospital, Murcia, Spain.
authors.forename: González Jose M
authors.initials: GJ
authors.lastname: Rodríguez
authors.forename: María D
authors.initials: MD
authors.lastname: Balsalobre
authors.forename: Francisco
authors.initials: F
authors.lastname: Pomares
authors.forename: Nuria M
authors.initials: NM
authors.lastname: Torregrosa
authors.forename: Antonio
authors.initials: A
authors.lastname: Ríos
authors.forename: Pablo
authors.initials: P
authors.lastname: Carbonell
authors.forename: Guillermo
authors.initials: G
authors.lastname: Glower
authors.forename: Joaquín
authors.initials: J
authors.lastname: Sola
authors.forename: Javier
authors.initials: J
authors.lastname: Tébar
authors.forename: Pascual
authors.initials: P
authors.lastname: Parrilla
mesh_terms: D000293:Adolescent; D000328:Adult; D002116:Calcitonin / Q000097:blood; D002648:Child; D002675:Child, Preschool; D003545:Cysteine / Q000235:genetics; D029721:Drosophila Proteins; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D018813:Multiple Endocrine Neoplasia Type 2a / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation; D009364:Neoplasm Recurrence, Local / Q000473:pathology; D000090063:Proto-Oncogene Mas; D011518:Proto-Oncogene Proteins / Q000235:genetics; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics; D013960:Thyroid Function Tests; D013964:Thyroid Neoplasms / Q000235:genetics / Q000517:prevention & control* / Q000601:surgery; D013965:Thyroidectomy; D014443:Tyrosine / Q000235:genetics
chemical_list: D029721:Drosophila Proteins; C000715470:MAS1 protein, human; D000090063:Proto-Oncogene Mas; D011518:Proto-Oncogene Proteins; D014443:Tyrosine; D002116:Calcitonin; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases; C416649:Ret protein, Drosophila; D003545:Cysteine