title: Diagnostic and surgical dilemmas in hereditary medullary thyroid carcinoma.
abstract: Medullary thyroid carcinoma (MTC) is a rare malignancy arising from the parafollicular C cells within the thyroid gland. The majority of cases are sporadic, but at least 30% are hereditary in nature. Inherited forms of MTC occur as familial MTC or as a manifestation of multiple endocrine neoplasia type 2. Early diagnosis and aggressive surgical management, including prophylactic thyroidectomy, improve the prognosis of patients with hereditary MTC. Several issues regarding the diagnosis and treatment of MTC remain controversial. Genetic penetrance and virulence are variable. We present an index case of familial MTC to illustrate common difficulties in the initial diagnosis and dilemmas in the surgical approach, followed by a review of current literature relevant to the management of hereditary MTC.
authors.affiliation: Department of Otolaryngology-Head and Neck Surgery, University of Arkansas Medical Sciences, Little Rock, Arkansas, USA.
authors.forename: Shawn M
authors.initials: SM
authors.lastname: Allen
authors.forename: Donald
authors.initials: D
authors.lastname: Bodenner
authors.forename: James Y
authors.initials: JY
authors.lastname: Suen
authors.forename: Gresham T
authors.initials: GT
authors.lastname: Richter
mesh_terms: D044963:Biopsy, Fine-Needle; D002116:Calcitonin / Q000097:blood; D018276:Carcinoma, Medullary / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D003937:Diagnosis, Differential; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D018813:Multiple Endocrine Neoplasia Type 2a / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D051096:Proto-Oncogene Proteins c-ret / Q000235:genetics*; D013964:Thyroid Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D013965:Thyroidectomy
chemical_list: D002116:Calcitonin; D051096:Proto-Oncogene Proteins c-ret; C099282:RET protein, human