Lynda Louhibi1, Amparo Marco2, Pedro J Pinés3, José C Padillo4, Inés Gómez5, Miguel A Valero6, Mubarak Alramadán7, Sandra Herranz8, Miguel Aguirre9, Antonio Hernández10. 1. Sección de Endocrinología y Nutrición, Hospital General de Villarrobledo, Villarrobledo, Albacete, España. Electronic address: lyndalouhibi@gmail.com. 2. Sección de Endocrinología y Nutrición, Hospital Virgen de la Salud, Toledo, España. 3. Sección de Endocrinología y Nutrición, Hospital General de Almansa, Almansa, Albacete, España. 4. Sección de Endocrinología y Nutrición, Hospital Santa Bárbara de Puertollano, Puertollano, Ciudad Real, España. 5. Sección de Endocrinología y Nutrición, Complejo Hospitalario La Mancha-Centro, Alcázar de San Juan, Ciudad Real, España. 6. Sección de Endocrinología y Nutrición, Hospital General Nuestra Señora del Prado, Talavera de la Reina, Toledo, España. 7. Sección de Endocrinología y Nutrición, Hospital Virgen de la Luz, Cuenca, España. 8. Sección de Endocrinología y Nutrición, Hospital Universitario de Guadalajara, Guadalajara, España. 9. Sección de Endocrinología y Nutrición, Hospital General de Ciudad Real, Ciudad Real, España. 10. Servicio de Endocrinología y Nutrición, Complejo Hospitalario Universitario de Albacete, Albacete, España.
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. PATIENTS AND 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.
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. PATIENTS AND 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.
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
Authors: S Jayakody; J Reagh; M Bullock; A Aniss; R Clifton-Bligh; D Learoyd; B Robinson; L Delbridge; S Sidhu; A J Gill; M Sywak Journal: World J Surg Date: 2018-05 Impact factor: 3.352