Publications by authors named "Daiana Ganiewich"
Purpose: Refractory or recurrent retinoblastoma results from acquired chemoresistance and the management of these eyes often requires surgical removal. Our objective was to develop retinoblastoma models resistant to chemotherapy by exposing cancer cells to repeated chemotherapy mimicking the clinical scenario. These newly resistant cells were used to evaluate potential novel therapies.
View Article and Find Full Text PDFArticle Synopsis
- Correctly interpreting germline RUNX1 variants is crucial for diagnosing and managing FPD/AML (familial platelet disorder/acute myeloid leukemia).
- The study highlights two families with significant FPD/AML characteristics that have missense variants at a crucial residue (Gly168), which are often misclassified as variants of unknown significance (VUS).
- Evidence from computational analysis and observed platelet expression suggests these variants are likely pathogenic, indicating a need to revise RUNX1 classification guidelines to improve diagnostic accuracy.
Purpose: Although there have been improvements in the management of metastatic retinoblastoma, most patients do not survive, and all patients suffer from multiple short- and long-term treatment toxicities. Reliable and informative models to assist clinicians are needed. Thus we developed and comprehensively characterized a novel preclinical platform of primary cell cultures and xenograft models of metastatic retinoblastoma to provide insights into the molecular biology underlying metastases and to perform drug screening for the identification of hit candidates with the highest potential for clinical translation.
View Article and Find Full Text PDFIntroduction: The risk of relapse in retinoblastoma is currently determined by the presence of high-risk histopathologic factors in the enucleated eye. However, the probability of developing metastatic disease is heterogeneous among these patients. Evaluating a biological marker to identify high-risk patients could be useful in clinical setting.
View Article and Find Full Text PDFMost reports about copy number alterations (CNA) in retinoblastoma relate to patients with intraocular disease and features of children with extraocular relapse remain unknown, so we aimed to describe the CNA in this population. We evaluated 23 patients and 27 specimens from 4 centers. Seventeen cases had extraocular relapse after initial enucleation and six cases after an initial preservation attempt.
View Article and Find Full Text PDFAn uncommon subgroup of unilateral retinoblastomas with highly aggressive histological features, lacking aberrations in gene with high-level amplification of (ampl+/+) has only been described as intra-ocular cases treated with initial enucleation. Here, we present a comprehensive clinical, genomic, and pharmacological analysis of two cases of ampl+/+ with orbital and cervical lymph node involvement, but no central nervous system spread, rapidly progressing to fatal disease due to chemoresistance. Both patients showed in common high amplification and chromosome 16q and 17p loss.
View Article and Find Full Text PDFImportance: Comprehensive understanding of the genomic and gene-expression differences between retinoblastoma tumors from patients with bilateral disease may help to characterize risk and optimize treatment according to individual tumor characteristics.
Objective: To compare the genomic features between each eye and a specimen from an orbital relapse in patients with bilateral retinoblastoma.
Design, Setting, And Participants: In this case, 2 patients with retinoblastoma underwent upfront bilateral enucleation.