ABSTRACT
Genetic and functional aberrations of guanine nucleotide-binding protein, alpha stimulating (GNAS), aryl hydrocarbon receptor interacting protein (AIP), and pituitary tumor transforming gene (PTTG) are among the most prominent events in pituitary tumorigenesis. A cohort of Brazilian patients with somatotropinomas (n=41) and non-functioning pituitary adenomas (NFPA, n=21) from a single tertiary-referral center were evaluated for GNAS and AIP mutations and gene expression of AIP and PTTG. Results were compared to the clinical and biological (Ki67 and p53 expression) characteristics of tumors and their response to therapy, if applicable. Genetic analysis revealed that 27% of somatotropinomas and 4.8% of NFPA harbored GNAS mutations (P=0.05). However, no differences were observed in clinical characteristics, tumor extension, response to somatostatin analog therapy, hormonal/surgical remission rates, Ki67 index, and p53 expression between mutated and non-mutated somatotropinomas patients. PTTG overexpression (RQ mean=10.6, min=4.39, max=11.9) and AIP underexpression (RQ mean=0.56, min=0.46-max=0.92) were found in virtually all cases without a statistically significant relationship with clinical and biological tumor features. No patients exhibited somatic or germline pathogenic AIP mutations. In conclusion, mutations in GNAS and abnormal PTTG and AIP expression had no impact on tumor features and treatment outcomes in this cohort. Our data support some previous studies and point to the need for further investigations, probably involving epigenetic and transcriptome analysis, to improve our understanding of pituitary tumor behavior.
Subject(s)
Humans , Male , Female , Adult , Middle Aged , Pituitary Neoplasms/genetics , Adenoma/genetics , Germ-Line Mutation/genetics , Growth Hormone-Secreting Pituitary Adenoma/genetics , Pituitary Gland/pathology , Pituitary Neoplasms/pathology , Brazil , DNA, Neoplasm , Genetic Markers , Adenoma/pathology , Cell Transformation, Neoplastic , Cohort Studies , Intracellular Signaling Peptides and Proteins , Growth Hormone-Secreting Pituitary Adenoma/pathology , CarcinogenesisABSTRACT
Registrou-se a ocorrência de A. vasorum em C. thous no Estado de Minas Gerais, e estudaram-se aspectos de sua ecologia nessa população de hospedeiros. A partir da necropsia de seis espécimes, observou-se a presença de A. vasorum nos pulmões e átrio direito de C. thous. No total foram coletados 24 espécimes de A. vasorum, com prevalência de 50 por cento, abundância média de 4±4,47, intensidade média de 8±3,00 e razão sexual (machos/fêmeas) de 1:1,19. As infrapopulações de A. vasorum apresentaram padrão de distribuição espacial agregado (ID=5,70 e K=0,355). Este é o primeiro registro de A. vasorum em C. thous no estado, descrito no município de Juiz de Fora