CD20 expression regulates CD37 levels in B-cell lymphoma - implications for immunotherapies.

Rituximab (RTX) plus chemotherapy (R-CHOP) applied as a first-line therapy for lymphoma leads to a relapse in approximately 40% of the patients. Therefore, novel approaches to treat aggressive lymphomas are being intensively investigated. Several RTX-resistant (RR) cell lines have been established as surrogate models to study resistance to R-CHOP.

The interplay between telomeric complex members and BCR::ABL1 oncogenic tyrosine kinase in the maintenance of telomere length in chronic myeloid leukemia.

Purpose: Chronic myeloid leukemia (CML) is a myeloproliferative neoplasm characterized by recurrent genetic aberration in leukemic stem cells, namely Philadelphia chromosome caused by reciprocal translocation t(9;22)(q34;q11). In our study, we analyzed the telomeric complex expression and function in the molecular pathogenesis of CML.

Methods: We employed CD34+ primary leukemic cells, comprising both leukemic stem and progenitor cell populations, isolated from peripheral blood or bone marrow of CML patients in chronic and blastic phase to analyze the telomere length and telomeric-associated proteins.

Analysis of Mutational Profile of Hypopharyngeal and Laryngeal Head and Neck Squamous Cell Carcinomas Identifies as a Potential Tumor Suppressor.

Hypopharyngeal cancer is a poorly characterized type of head and neck squamous cell carcinoma (HNSCC) with bleak prognosis and only few studies focusing specifically on the genomic profile of this type of cancer. We performed molecular profiling of 48 HPV (Human Papilloma Virus)-negative tumor samples including 23 originating from the hypopharynx and 25 from the larynx using a targeted next-generation sequencing approach. Among genes previously described as significantly mutated, , and were found to be most frequently mutated.

Epithelial Cells of Deep Infiltrating Endometriosis Harbor Mutations in Cancer Driver Genes.

Endometriosis is an inflammatory condition manifested by the presence of endometrial-like tissue outside of the uterine cavity. The most common clinical presentations of endometriosis are dysmenorrhea, infertility, and severe pelvic pain. Few hypotheses attempt to explain the pathogenesis of endometriosis; however, none of the theories have been fully confirmed or considered universal.

Predictive significance of selected gene mutations in relapsed and refractory chronic lymphocytic leukemia patients treated with ibrutinib.

Background: Ibrutinib, an inhibitor of the Bruton's kinase (BTK), is characterized by high efficacy in the therapy of patients with relapsed and refractory chronic lymphocytic leukemia (RR-CLL).

Aims: To analyze the potential significance of the mutational status of selected 30 genes on the disease outcome in 45 patients with RR-CLL using custom-made gene panel and sequencing on Illumina MiSeq FGx platform.

Results: The highest rate of mutations was observed in TP53 (n = 18; 40.

Differential Regulation of Telomeric Complex by Kinase in Human Cellular Models of Chronic Myeloid Leukemia-From Single Cell Analysis to Next-Generation Sequencing.

Telomeres are specialized nucleoprotein complexes, localized at the physical ends of chromosomes, that contribute to the maintenance of genome stability. One of the features of chronic myeloid leukemia (CML) cells is a reduction in telomere length which may result in increased genomic instability and progression of the disease. Aberrant telomere maintenance in CML is not fully understood and other mechanisms such as the alternative lengthening of telomeres (ALT) are involved.

Germline missense NF1 mutation in an elderly patient with a blastic plasmacytoid dendritic cell neoplasm.

Neurofibromatosis type 1 is an autosomal dominantly inherited tumor predisposition syndrome, in which inactivating mutations in the neurofibromatosis type 1 gene (NF1) lead to a prolonged activation of the signaling via the RAS/RAF/MAPK pathway leading to loss of growth control and increased cellular proliferation. We report a case of a 78-year-old man, a carrier of the germline NF1 Ala1224Gly/c.3671 C>G mutation, with ASXL1, ZRSR2 and TET2 mutation-positive blastic plasmacytoid dendritic cell neoplasm (BPDCN).

Nanoparticle-mediated decrease of lamin B1 pools promotes a TRF protein-based adaptive response in cultured cells.

In general, nanoparticle-based materials are promising candidates for use in biological systems for diagnostic and therapeutic approaches. However, these materials' actions at the molecular level remain poorly understood. Nanoparticle (silica, silver and diamond)-induced oxidative stress and activation of the NF-κB pathway lead to the depletion of lamin B1 pools, which, in turn, results in upregulation of telomeric repeat binding factor (TRF) protein expression and maintenance of telomere length.