Publications by authors named "J Gutierrez-Abril"
Article Synopsis
- Myelodysplastic syndromes (MDS) are blood disorders marked by irregularities in myeloid cells and low blood cell counts, often caused by genetic mutations, though classification has mostly focused on cell appearance.
- A study analyzing genomic data from over 3,200 MDS patients identified 16 distinct molecular subtypes, revealing varied clinical outcomes, with the majority of patients (86%) fitting into specific genetic groups linked to different survival rates.
- The findings suggest that understanding these genetically defined subgroups can enhance MDS classification and inform future treatment strategies, emphasizing the importance of genetic insight in managing the disease.
Article Synopsis
- * In a study of 652 BCP-ALL cases, whole genome sequencing (WGS) revealed cancer-related genetic changes in 51 out of 52 patients classified as B-other, including subtype-defining alterations that were previously overlooked.
- * The research found that WGS is effective in identifying key genetic drivers in B-other ALL cases and highlights the importance of combining it with RNA sequencing for a more comprehensive understanding of leukemia genetics and patient outcomes.
Article Synopsis
- * A comprehensive analysis of data from 1,148 patients led to the identification of 202 genetic drivers of CLL, including 109 that were previously unrecognized, and refined the understanding of IGHV subtypes.
- * This research not only clarifies the genomic landscape of CLL but also uncovers new gene expression subtypes that serve as independent prognostic factors, enhancing the prediction of clinical outcomes.
The utility of cancer whole genome and transcriptome sequencing (cWGTS) in oncology is increasingly recognized. However, implementation of cWGTS is challenged by the need to deliver results within clinically relevant timeframes, concerns about assay sensitivity, reporting and prioritization of findings. In a prospective research study we develop a workflow that reports comprehensive cWGTS results in 9 days.
View Article and Find Full Text PDFMantle cell lymphoma (MCL) is a mature B-cell neoplasm initially driven by CCND1 rearrangement with 2 molecular subtypes, conventional MCL (cMCL) and leukemic non-nodal MCL (nnMCL), that differ in their clinicobiological behavior. To identify the genetic and epigenetic alterations determining this diversity, we used whole-genome (n = 61) and exome (n = 21) sequencing (74% cMCL, 26% nnMCL) combined with transcriptome and DNA methylation profiles in the context of 5 MCL reference epigenomes. We identified that open and active chromatin at the major translocation cluster locus might facilitate the t(11;14)(q13;32), which modifies the 3-dimensional structure of the involved regions.
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