title: [Early therapeutic management of patients genetically predisposed to medullary thyroid cancer].
abstract: METHODS
  The aim of our study was to study therapeutic results after thyroidectomy in patients positive for predictive genetic analysis and with preoperative calcitonin (CT) response to pentagastlin (Pg) < 150 pg/ml.
  
  
  METHODS
  36 patients (13 F, 23 M) were selected: 13 F-MTC from 8 families, 22 MEN 2A from 15 families and 1 MEN 2B. They were positive for direct RET mutation analysis. CT was assayed by immunoradiometric method before and after Pg. Pg test results before and after thyroidectomy, age at operation and histologic results were analysed.
  
  
  RESULTS
  Mean preoperative peak CT was 82.5 +/- 34.0 pg/ml (22-133): among these 36 patients preoperative basal and peak CT were normal in 16 and 2 patients respectively. F-MTC and MEN 2A patients were different according to their preoperative peak CT levels (58.1 +/- 24.0 vs 97.6 +/- 31.3) pg/ml, p < 0.01) and age at thyroidectomy (20.4 +/- 10.5 vs 11.6 +/- 7.6 years, p < 0.01 by Mann-Whitney test). Total thyroidectomy was performed in all patients at a mean age of 14.8 +/- 9.8 years (2.5-41.7) and was associated with lymph node dissection in 30 cases. The 2 F-MTC patients with normal preoperative peak CT levels had bilateral C-cell hyperplasia (CCH) associated with uni or bilateral micro-MTC. Other patients had uni or bilateral micro MTC except 4 who had isolated CCH without carcinoma. The age of two MEN-2A and 1 MEN 2B patients with micro-MTC ranged from 2.5 to 4.7 yr. Micro MTC was present in 100% of MEN-2A cases after the age of 10 yr. There were no lymph nodes metastases. During postoperative survey, the last PG tests (n = 33) were performed 27.5 months (1-92) after thyroidectomy: peak CT values were always < 10 pg/ml.
  
  
  CONCLUSIONS
  Thyroidectomy should be performed at a very young age in RET mutation carriers, regardless of the plasma CT values. This choice is justified in NEM-2A and NEM-2B patients but must be discussed in F-MTC families with less aggressive forms of the disease.
authors.affiliation: Clinique d'Endocrinologie, Maladies Métaboliques, Hôtel Dieu, Centre Hospitalier Universitaire, NANTES.
authors.forename: A
authors.initials: A
authors.lastname: Murat
authors.forename: E
authors.initials: E
authors.lastname: Modigliani
authors.forename: B
authors.initials: B
authors.lastname: Conte-Devolx
authors.forename: V
authors.initials: V
authors.lastname: Rohmer
authors.forename: L
authors.initials: L
authors.lastname: Leclerc
authors.forename: I
authors.initials: I
authors.lastname: Guilhem
authors.forename: J C
authors.initials: JC
authors.lastname: Bigorgne
authors.forename: A
authors.initials: A
authors.lastname: Boneu
authors.forename: B
authors.initials: B
authors.lastname: Maes
authors.forename: O
authors.initials: O
authors.lastname: Chabre
authors.forename: P
authors.initials: P
authors.lastname: Niccoli
authors.forename: I
authors.initials: I
authors.lastname: Schuffenecker
authors.forename: S
authors.initials: S
authors.lastname: Giraud
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D002116:Calcitonin / Q000097:blood; D018276:Carcinoma, Medullary / Q000097:blood / Q000235:genetics* / Q000601:surgery*; D015984:Causality; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D005500:Follow-Up Studies; D006580:Genetic Carrier Screening; D020022:Genetic Predisposition to Disease; D006801:Humans; D008197:Lymph Node Excision; D008297:Male; D008875:Middle Aged; D013964:Thyroid Neoplasms / Q000097:blood / Q000235:genetics* / Q000601:surgery*; D013965:Thyroidectomy; D016896:Treatment Outcome
chemical_list: D002116:Calcitonin