Mutation Testing: Changing Patterns of Molecular Testing in Brazil.

Oncologist

Department of Medicine, Miller School of Medicine and Sylvester Comprehensive Cancer Center, University of Miami, Miami, Florida, USA.

Published: April 2019

Background: In Brazil, cancer is the second most common cause of death. Most patients in resource-limited countries are diagnosed in advanced stages. Current guidelines advocate for mutation testing in all patients with metastatic adenocarcinoma. Tyrosine kinase inhibitors are recommended in patients with advanced or metastatic disease harboring sensitizing mutations. In Brazil, there are limited data regarding the frequency of testing and the changes in patterns of testing overtime.

Materials And Methods: This was an observational, retrospective study. We obtained deidentified data from a commercial database, which included 11,684 patients with non-small cell lung cancer treated between 2011 and 2016 in both public and private settings. We analyzed the frequency of mutation testing over time. We also directly studied 3,664 tumor samples, which were analyzed between 2011 and 2013. These samples were tested for mutations through an access program to tyrosine kinase inhibitors in Brazil.

Results: Overall, 38% of patients were tested for mutations; 76% of them were seen in the private sector, and 24% were seen in the public center. The frequency of testing for mutations increased significantly over time: 13% (287/2,228 patients) in 2011, 34% (738/2,142) in 2012, 39% (822/2,092) in 2013, 44% (866/1,972) in 2014, 53% (1,165/2,184) in 2015, and 42% (1,359/3,226) in 2016. mutations were detected in 25.5% of analyzed samples (857/3,364). Deletions in Exon 19 were the most frequent mutations, detected in 54% of patients (463/857).

Conclusion: Our findings suggest that the frequency of mutation in this cohort was lower than that found in Asia but higher than in North American and Western European populations. The most commonly found mutations were in Exon 19 and Exon 21. Our study shows that fewer than half of patients are being tested and that the disparity is greater in the public sector.

Implications For Practice: These data not only indicate the shortage of testing but also show that the rates of positivity in those tested seem to be higher than in other cohorts for which data have been published. This study further supports the idea that awareness and access to testing should be improved in order to improve survival rates in lung cancer in Brazil.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6459254PMC
http://dx.doi.org/10.1634/theoncologist.2018-0254DOI Listing

Publication Analysis

Top Keywords

mutation testing
12
testing
8
patients
8
tyrosine kinase
8
kinase inhibitors
8
frequency testing
8
lung cancer
8
frequency mutation
8
tested mutations
8
patients tested
8

Similar Publications

Background: Rapid diagnostic tests (RDTs) based on the detection of Plasmodium falciparum histidine rich protein 2 (PfHRP2) are widely used for the diagnostic of P. falciparum in Africa. However, deletions of the pfhrp2 and pfhrp3 genes can lead to false negative test results and compromise appropriate case management.

View Article and Find Full Text PDF

Safety and efficacy of transbronchial cryobiopsy for elderly lung cancer patients.

BMC Pulm Med

December 2024

Department of Respiratory Medicine, Fujita Health University School of Medicine, 1-98 Dengakugakubo, Kutsukake-cho, Toyoake, 470-1192, Aichi, Japan.

Background: The increasing prevalence of lung cancer in the elderly population necessitates a closer evaluation of diagnostic and therapeutic approaches. This study aimed to compare the safety and diagnostic efficacy of transbronchial lung cryobiopsy (TBLC) between patients ≥ 80 years and younger patients.

Methods: A retrospective review was conducted of 96 patients diagnosed with peripheral lung cancer who underwent TBLC between April 2021 and October 2023.

View Article and Find Full Text PDF

Unlabelled: The RASopathies are a group of disorders resulting from a germline variant in the genes encoding the Ras/mitogen-activated protein kinase pathway. These disorders include Noonan syndrome (NS), cardiofaciocutaneous syndrome (CFC), Costello syndrome (CS), Legius syndrome (LS), and neurofibromatosis type 1 (NF1), and have overlapping clinical features due to RAS/MAPK dysfunction. In this study, we aimed to describe the clinical and molecular features of patients exhibiting phenotypic manifestations consistent with RASopathies.

View Article and Find Full Text PDF

Performance of a novel viral load assay for plasma HIV-1 RNA quantification compared with Roche real time PCR in China.

J Virol Methods

December 2024

Institute of Infectious Diseases, Guangzhou Eighth People's Hospital, Guangzhou Medical University, Guangzhou 510440, China. Electronic address:

The aim of this study was to compare the Sansure HIV-1 VL assay with the Roche Cobas HIV-1 assay in the quantitation of HIV-1 VL and evaluate its application in China. We collected plasma samples from patients infected with HIV-1 or interference patients infected with other viruses. The same samples were subsequently tested using the Sansure HIV-1 VL and Roche Cobas HIV-1 VL assays.

View Article and Find Full Text PDF

Homologous recombination deficiency (HRD) is considered a universal and effective sign of a tumor's sensitivity to poly(ADP-ribose) polymerase (PARP) inhibitors. HRD diagnostics have undergone several stages of transformations: from detection of point mutations in HR-related genes and large regions with loss of heterozygosity detected using single-nucleotide polymorphism arrays to whole-genome signatures of single-nucleotide variants, large genomic rearrangements (LGRs), and copy number alterations. All these methods have their own advantages and limitations.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!