ABSTRACT
Thyroid cancer is the fastest increasing cancer worldwide in all age groups. Papillary thyroid carcinoma (PTC) is the most common type of thyroid cancer in both adults and children. PTC genomic landscape has been extensively studied in adults, but information regarding sporadic pediatric patients is lacking. Although BRAF V600E mutation is highly prevalent in adults, this mutation is uncommon in pediatric cases. As adult and pediatric PTC is a mitogen-activated protein kinase-driven cancer, this altered pathway might be activated by different genetic events. The aim of this study was to investigate the occurrence of AGK-BRAF fusion gene, recently described in radiation-exposed pediatric PTC, in a cohort of exclusively sporadic pediatric PTC. The series consisted of 30 pediatric PTC younger than 18 years of age at the time of diagnosis and 15 matched lymph node metastases (LNM). Primary tumors and matched LNM were screened for the presence of the AGK-BRAF fusion transcript by RT-PCR. To confirm the identity of the amplified products, randomly selected samples positive for the presence of the fusion transcripts were sequenced. Moreover, BRAF dual-color, break-apart probes confirmed BRAF rearrangement. Overall, the AGK-BRAF fusion gene was detected in 10% (3/30) of primary tumors. For one of these cases, paired LNM was also available, which also shows the presence of AGK-BRAF fusion gene. This study described, for the first time, the presence of AGK-BRAF in sporadic pediatric PTC. Understanding the molecular events underlying pediatric PTC may improve preoperative diagnosis, allow molecular prognostication and define a therapeutic approach toward sporadic PTC patients.
Subject(s)
Angiopoietin-like Proteins/genetics , Oncogene Proteins, Fusion/genetics , Proto-Oncogene Proteins B-raf/genetics , Thyroid Neoplasms/genetics , Thyroid Neoplasms/pathology , Adolescent , Angiopoietin-Like Protein 6 , Carcinoma, Papillary/genetics , Carcinoma, Papillary/pathology , Child , Child, Preschool , Female , Humans , In Situ Hybridization, Fluorescence , Lymphatic Metastasis , Male , Mutation , Neoplasm Metastasis , Neoplasm Recurrence, Local , Neoplasm Staging , Thyroid Cancer, Papillary , Translocation, Genetic , Tumor BurdenABSTRACT
OBJECTIVE: To provide epidemiological information about thyroid cancer (TC) in the Metropolitan area of Florianopolis and investigate some factors that could be associated with this type of cancer. METHOD: This study analyzed data of patients who had TC diagnosed and underwent surgical treatment in 2000 and 2005. Epidemiological factors about patients, tumors and surgical procedures were evaluated. RESULTS: In 2000 and 2005, an increasing incidence of TC at a rate of 132.33% was detected. The increased rate was mainly observed for tumors measuring less than 1 cm (p = 0.004). Results also showed an increase in the number of multifocal tumors (p = 0.02) and in the rate of total thyroidectomy (p = 0.002). CONCLUSIONS: The increasing incidence of TC in the Metropolitan area of Florianopolis is probably due to more invasive thyroid nodule management. Future studies are necessary to establish potential predicting factors for papillary thyroid microcarcinoma aggressiveness, as well as predictors of follicular lesion malignancy to identifying more accurately the appropriate therapy approach.
Subject(s)
Carcinoma, Papillary/epidemiology , Thyroid Neoplasms/epidemiology , Adolescent , Adult , Aged , Aged, 80 and over , Brazil/epidemiology , Carcinoma, Papillary/mortality , Carcinoma, Papillary/pathology , Epidemiologic Methods , Female , Humans , Male , Middle Aged , Risk Factors , Thyroid Neoplasms/mortality , Thyroid Neoplasms/pathology , Young AdultABSTRACT
OBJECTIVE: To provide epidemiological information about thyroid cancer (TC) in the Metropolitan area of Florianopolis and investigate some factors that could be associated with this type of cancer. METHOD: This study analyzed data of patients who had TC diagnosed and underwent surgical treatment in 2000 and 2005. Epidemiological factors about patients, tumors and surgical procedures were evaluated. RESULTS: In 2000 and 2005, an increasing incidence of TC at a rate of 132.33% was detected. The increased rate was mainly observed for tumors measuring less than 1 cm (p = 0.004). Results also showed an increase in the number of multifocal tumors (p = 0.02) and in the rate of total thyroidectomy (p = 0.002). CONCLUSIONS: The increasing incidence of TC in the Metropolitan area of Florianopolis is probably due to more invasive thyroid nodule management. Future studies are necessary to establish potential predicting factors for papillary thyroid microcarcinoma aggressiveness, as well as predictors of follicular lesion malignancy to identifying more accurately the appropriate therapy approach.
OBJETIVO: Fornecer informações epidemiológicas acerca do câncer de tireoide (CT) na Grande Florianópolis e avaliar fatores que possam estar associados a tal neoplasia. MÉTODOS: A população de estudo incluiu pacientes, com diagnóstico de CT, submetidos a tratamento cirúrgico em 2000 e 2005. Foram avaliados fatores epidemiológicos referentes aos pacientes, características das lesões e procedimentos cirúrgicos realizados. RESULTADOS: Durante o período de estudo, detectou-se um aumento na incidência do CT correspondente a 132,33%. Verificouse um incremento estatisticamente significativo dos tumores menores de um centímetro (p = 0,004), da proporção de tumores multicêntricos (p = 0,02) e de tireoidectomias totais (p = 0,002). CONCLUSÕES: A maior incidência do CT na Grande Florianópolis está possivelmente associada a uma conduta mais intervencionista na abordagem de nódulos tireoidianos. Estudos futuros se fazem necessários para o estabelecimento de critérios preditivos da agressividade dos microcarcinomas papilíferos e de malignidade das lesões foliculares no sentido de identificar com acurácia a melhor opção terapêutica.