title: Role of prophylactic thyroidectomy in RET 790 familial medullary thyroid carcinoma.
abstract: BACKGROUND
  We describe a family harboring RET 790 mutation and review the role of prophylactic thyroidectomy for medullary thyroid carcinoma.
  
  
  METHODS
  We evaluated in detail both clinical and biological follow-up and reviewed literature reports.
  
  
  RESULTS
  Among 86 family members, 15 of 22 members screened harbored the 790 mutation. Abnormal calcitonin levels were found in 8/15. Total thyroidectomy with lymph node dissection cured the 5 operated patients (range, 45-76 years). Tumor staging was pT1N0M0. Among 10 carriers who did not undergo surgery, 3 patients had abnormal calcitonin levels. For the others, calcitonin levels remained <30 pg/mL. Two asymptomatic carriers were older than 70 years. Four subjects were lost to follow-up.
  
  
  CONCLUSIONS
  In RET codon 790 mutations families, a case-by-case decision instead of systematic prophylactic thyroidectomy should be discussed. Difficulties of follow-up should be taken into account and represent the main challenge.
authors.affiliation: Department of Endocrinology, Diabetology and Metabolic Disease, Avicenne Hospital, Paris XIII University and Assistance Publique-Hôpitaux de Paris, Bobigny, France.
authors.forename: Hélène
authors.initials: H
authors.lastname: Bihan
authors.forename: Eric
authors.initials: E
authors.lastname: Baudin
authors.forename: Taly
authors.initials: T
authors.lastname: Meas
authors.forename: Sophie
authors.initials: S
authors.lastname: Leboulleux
authors.forename: Abir
authors.initials: A
authors.lastname: Al Ghuzlan
authors.forename: Véronique
authors.initials: V
authors.lastname: Hannoteaux
authors.forename: Jean-Paul
authors.initials: JP
authors.lastname: Travagli
authors.forename: Patrice
authors.initials: P
authors.lastname: Valleur
authors.forename: Pierre-Jean
authors.initials: PJ
authors.lastname: Guillausseau
authors.forename: Régis
authors.initials: R
authors.lastname: Cohen
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D000368:Aged; D018276:Carcinoma, Medullary / Q000151:congenital; D004252:DNA Mutational Analysis; D005260:Female; D005500:Follow-Up Studies; D005820:Genetic Testing / Q000379:methods; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D018813:Multiple Endocrine Neoplasia Type 2a; D009154:Mutation; D009386:Neoplastic Syndromes, Hereditary / Q000235:genetics / Q000517:prevention & control* / Q000601:surgery; D010375:Pedigree; D011322:Primary Prevention / Q000379:methods*; D051096:Proto-Oncogene Proteins c-ret / Q000235:genetics*; D018570:Risk Assessment; D012494:Sampling Studies; D012737:Sex Factors; D013964:Thyroid Neoplasms / Q000235:genetics / Q000517:prevention & control* / Q000601:surgery; D013965:Thyroidectomy / Q000379:methods*; D016896:Treatment Outcome; D055815:Young Adult
chemical_list: D051096:Proto-Oncogene Proteins c-ret