Next generation sequencing (NGS) is a technology that broadens the horizon of knowledge of several somatic pathologies, especially in oncological and oncohematological pathology. In the case of NHL, the understanding of the mechanisms of tumorigenesis, tumor proliferation and the identification of genetic markers specific to different lymphoma subtypes led to more accurate classification and diagnosis. Similarly, the data obtained through NGS allowed the identification of recurrent somatic mutations that can serve as therapeutic targets that can be inhibited and thus reducing the rate of resistant cases.
View Article and Find Full Text PDFDiffuse large B-cell lymphoma (DLBCL) is the most common type of non-Hodgkin lymphoma. Despite notable therapeutic advances in the last decades, 30%-40% of affected patients develop relapsed or refractory disease that frequently precludes an infamous outcome. With the advent of new therapeutic options, it becomes necessary to predict responses to the standard treatment based on rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisone (R-CHOP).
View Article and Find Full Text PDFFollicular Lymphoma (FL) has a 10-year mortality rate of 20%, and this is mostly related to lymphoma progression and transformation to higher grades. In the era of personalized medicine it has become increasingly important to provide patients with an optimal prediction about their expected outcomes. The objective of this work was to apply machine learning (ML) tools on gene expression data in order to create individualized predictions about survival in patients with FL.
View Article and Find Full Text PDFB-cell lymphoproliferative disorders exhibit a diverse spectrum of diagnostic entities with heterogeneous behaviour. Multiple efforts have focused on the determination of the genomic drivers of B-cell lymphoma subtypes. In the meantime, the aggregation of diverse tumors in pan-cancer genomic studies has become a useful tool to detect new driver genes, while enabling the comparison of mutational patterns across tumors.
View Article and Find Full Text PDFThere is growing evidence indicating the implication of germline variation in cancer predisposition and prognostication. Here, we describe an analysis of likely disruptive rare variants across the genomes of 726 patients with B-cell lymphoid neoplasms. We discovered a significant enrichment for two genes in rare dysfunctional variants, both of which participate in the regulation of oxidative stress pathways ( and ).
View Article and Find Full Text PDFBackground: Thirty to forty percent of patients with Diffuse Large B-cell Lymphoma (DLBCL) have an adverse clinical evolution. The increased understanding of DLBCL biology has shed light on the clinical evolution of this pathology, leading to the discovery of prognostic factors based on gene expression data, genomic rearrangements and mutational subgroups. Nevertheless, additional efforts are needed in order to enable survival predictions at the patient level.
View Article and Find Full Text PDFPhotodermatol Photoimmunol Photomed
July 2020
Acta Otorrinolaringol Esp (Engl Ed)
January 2019
Myelolipomas are rare benign tumors of poorly understood tumorigenesis composed of mature hematopoietic tissue and fat. They mostly occur in the adrenal glands, but extra-adrenal myelolipomas have been reported in other locations such as the presacral region or retroperitoneum. It is not unusual that they are incidental findings revealed in the study of different diseases.
View Article and Find Full Text PDFSarcomatoid bladder carcinoma is a high-grade neoplasm and accounts for approximately 0,3% of all bladder malignancies. Sarcomatoid carcinoma originates from transitional cells of the bladder. Sarcomatoid carcinoma is charactericed by a epithelial component and a sarcomatoid component, consisting of spindle cells, that is only epithelial marker-positive.
View Article and Find Full Text PDF