5 documents found, page 1 of 1
Lack of microsatellite instability in gastrointestinal stromal tumors
Campanella, Nathália C.; Scapulatempo-Neto, Cristovam; Abrahão-Machado, Lucas Faria; Oliveira, Antônio Talvane Torres; Berardinelli, Gustavo N.The microsatellite instability (MSI) phenotype may constitute an important biomarker for patient response to immunotherapy, particularly to anti-programmed death-1 inhibitors. MSI is a type of genomic instability caused by a defect in DNA mismatch repair (MMR) proteins, which is present mainly in colorectal cancer and its hereditary form, hereditary nonpolyposis colorectal cancer. Gastrointestinal stromal tumor...
Copy number profiling of Brazilian astrocytomas
Bidinotto, Lucas Tadeu; Torrieri, Raul; Mackay, Alan; Almeida, Gisele Caravina; Pereira, Marta Viana; Carloni, Adriana C.; Spina, Maria LuisaCopy number alterations (CNA) are one of the driving mechanisms of glioma tumorigenesis, and are currently used as important biomarkers in the routine setting. Therefore, we performed CNA profiling of 65 astrocytomas of distinct malignant grades (WHO grade I-IV) of Brazilian origin, using array-CGH and microsatellite instability analysis (MSI), and investigated their correlation with TERT and IDH1 mutational st...
Low frequency of TERT promoter mutations in gastrointestinal stromal tumors (GI...
Reis, R. M.; Campanella, Nathália C.; Celestino, Ricardo; Pestana, Ana; Scapulatempo-Neto, Cristovam; Oliveira, Antônio Talvane TorresSomatic mutations in the promoter region of telomerase reverse transcriptase (TERT) gene, mainly at positions c. − 124 and c. − 146 bp, are frequent in several human cancers; yet its presence in gastrointestinal stromal tumor (GIST) has not been reported to date. Herein, we searched for the presence and clinicopathological association of TERT promoter mutations in genomic DNA from 130 bona fide GISTs. We found ...
Absence of microsatellite instability in soft tissue sarcomas
Campanella, Nathália C.; Penna, Valter; Ribeiro, Guilherme; Abrahão-Machado, Lucas Faria; Scapulatempo-Neto, Cristovam; Reis, R. M.Here, we analyze a series of soft tissue sarcomas (STS), which are a heterogeneous group of mesenchymal neoplasms, for the presence and frequency of microsatellite instability (MSI). MSI has been proposed to be clinically relevant for colorectal cancer, yet on STS its role is not consensual, partly due to the limited number of cases analyzed and methodology issues.
Optimization of a pentaplex panel for MSI analysis without control DNA in a Bra...
Campanella, Nathália C.; Berardinelli, Gustavo N.; Scapulatempo-Neto, Cristovam; Viana, Danilo; Palmero, Edenir I.; Pereira, Rui; Reis, R. M.Microsatellite instability (MSI) testing has been advocated for all newly diagnosed colorectal cancer patients. One of the most common tests is composed by a pentaplex panel of mononucleotides markers (NR-27, NR-21, NR-24, BAT-25, and BAT-26), which allows the analysis of MSI in tumors without the need of reference DNA. For that, it is fundamental to establish a quasi-monomorphic variation range (QMVR) for each...