Head & neck · 2011
Role of prophylactic thyroidectomy in RET 790 familial medullary thyroid carcinoma.
СтатьяНазвание и аннотация: Перевод в очереди
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Bihan Hélène, Baudin Eric, Meas Taly, Leboulleux Sophie, Al Ghuzlan Abir, Hannoteaux Véronique, Travagli Jean-Paul, Valleur Patrice, Guillausseau Pierre-Jean, Cohen Régis, French Group of Endocrine Tumors
Аннотация
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.
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.
Предметные рубрики MeSH
AdolescentAdultAge FactorsAgedCarcinoma, MedullaryDNA Mutational AnalysisFemaleFollow-Up StudiesGenetic TestingHeterozygoteHumansMaleMiddle AgedMultiple Endocrine Neoplasia Type 2aMutationNeoplastic Syndromes, HereditaryPedigreePrimary PreventionProto-Oncogene Proteins c-retRisk AssessmentSampling StudiesSex FactorsThyroid NeoplasmsThyroidectomyTreatment OutcomeYoung Adult