title: Demographic, clinical, and genetic characteristics of patients with medullary thyroid cancer in the past 16 years in Castilla-La Mancha.
abstract: OBJECTIVE
  Medullary thyroid cancer is a rare tumor that is more aggressive and has a worse prognosis than differentiated thyroid cancer. The purpose of this study was to report the demographic, clinical, and genetic characteristics of patients seen in the health care system of the community of Castilla-La Mancha over a 16-year period.
  
  
  METHODS
  Data were collected through a review of patients' medical records.
  
  
  RESULTS
  The medical records of 58 patients (mean age at diagnosis, 51 years; range, 6-82 years; 63.8% women) were reviewed. Prevalence rate was 2.84 cases per 100,000 inhabitants, with a high variability between areas (range, 0-5.4 cases per 100,000 inhabitants). Familial cases accounted for 34.5% of all medullary thyroid cancers, and the most common mutation was C634Y. The condition was most commonly diagnosed following palpation of a cervical lump (70.6%). At diagnosis, 56 of 58 patients underwent ultrasound and 8 of 58 patients were tested for serum calcitonin. Tumor multicentricity was reported in 59 and 50% of patients with multiple endocrine neoplasia syndrome type 2A and 2B, respectively, and in no sporadic cases. Fifty-two percent of patients had an advanced stage (iii or iv) at diagnosis. Median follow-up was 36 months (interquartile range, 14-210); 11 patients were lost to follow-up.
  
  
  CONCLUSIONS
  In Castilla-La Mancha, medullary thyroid cancer is diagnosed by cervical ultrasound, rather than calcitonin assay. There is a high prevalence of both familial and sporadic medullary thyroid cancer, and a significant variability in the type of proto-oncogen rearranged during transfection mutation as compared to the rest of the Spanish population.
authors.affiliation: Sección de Endocrinología y Nutrición, Hospital General de Villarrobledo, Villarrobledo, Albacete, España. Electronic address: lyndalouhibi@gmail.com.
authors.forename: Lynda
authors.initials: L
authors.lastname: Louhibi
authors.affiliation: Sección de Endocrinología y Nutrición, Hospital Virgen de la Salud, Toledo, España.
authors.forename: Amparo
authors.initials: A
authors.lastname: Marco
authors.affiliation: Sección de Endocrinología y Nutrición, Hospital General de Almansa, Almansa, Albacete, España.
authors.forename: Pedro J
authors.initials: PJ
authors.lastname: Pinés
authors.affiliation: Sección de Endocrinología y Nutrición, Hospital Santa Bárbara de Puertollano, Puertollano, Ciudad Real, España.
authors.forename: José C
authors.initials: JC
authors.lastname: Padillo
authors.affiliation: Sección de Endocrinología y Nutrición, Complejo Hospitalario La Mancha-Centro, Alcázar de San Juan, Ciudad Real, España.
authors.forename: Inés
authors.initials: I
authors.lastname: Gómez
authors.affiliation: Sección de Endocrinología y Nutrición, Hospital General Nuestra Señora del Prado, Talavera de la Reina, Toledo, España.
authors.forename: Miguel A
authors.initials: MA
authors.lastname: Valero
authors.affiliation: Sección de Endocrinología y Nutrición, Hospital Virgen de la Luz, Cuenca, España.
authors.forename: Mubarak
authors.initials: M
authors.lastname: Alramadán
authors.affiliation: Sección de Endocrinología y Nutrición, Hospital Universitario de Guadalajara, Guadalajara, España.
authors.forename: Sandra
authors.initials: S
authors.lastname: Herranz
authors.affiliation: Sección de Endocrinología y Nutrición, Hospital General de Ciudad Real, Ciudad Real, España.
authors.forename: Miguel
authors.initials: M
authors.lastname: Aguirre
authors.affiliation: Servicio de Endocrinología y Nutrición, Complejo Hospitalario Universitario de Albacete, Albacete, España.
authors.forename: Antonio
authors.initials: A
authors.lastname: Hernández
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D018278:Carcinoma, Neuroendocrine / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000628:therapy; D002648:Child; D003710:Demography; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D012189:Retrospective Studies; D013030:Spain; D013964:Thyroid Neoplasms / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000628:therapy; D013997:Time Factors; D055815:Young Adult
keywords: Cáncer medular de tiroides; Medullary thyroid cancer; Multiple endocrine neoplasia syndrome type 2; Protooncogén rearranged during transfection; Rearranged during transfection protooncogene; Síndrome de neoplasia múltiple tipo 2