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Effect of Autologous Stem Cell Transplantation Combined with Modified VTD Regimen on Elderly Patients with Multiple Myeloma and Its Influence on miRNA Cytokines.

ObjectiveTo explore the effect of autologous stem cell transplantation combined with modified VTD regimen on elderly patients with multiple myeloma and its influence on miRNA cytokines.MethodsThe data of 42 elderly patients with multiple myeloma who were treated in our hospital from May 2010 to June 2018 were retrospectively analyzed, and they were divided into the combined group (autologous stem cell transplantation combined with improved VTD scheme, n = 25) and the control group (improved VTD scheme, n = 17) according to different treatment schemes, and the clinical efficacy of the two group

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… Many patients with multiple myeloma have immune dysfunction, and their gene subtypes and chromosomal abnormalities are related to certain miRNAs, and more than 50% of miRNAs are located in genomic regions such as amplification region, cleavage site, fragile site, and loss of heterozygosity. miRNA is …

Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type I.

Neurofibromatosis type I, a genetic condition due to pathogenic variants in the NF1 gene, is burdened by a high rate of complications, including neoplasms, which increase morbidity and mortality for the disease. We retrospectively re-evaluated the NF1 gene variants found in the period 2000-2019 and we studied for genotype/phenotype correlations of disease complications and neoplasms 34 variants, which were shared by at least two unrelated families (range 2-11) for a total 141 of probands and 21 relatives affected by Neurofibromatosis type I. Recurrent variants could be ascribed to the most com

mTOR Cross-Talk in Cancer and Potential for Combination Therapy.

The mammalian Target of Rapamycin (mTOR) pathway plays an essential role in sensing and integrating a variety of exogenous cues to regulate cellular growth and metabolism, in both physiological and pathological conditions. mTOR functions through two functionally and structurally distinct multi-component complexes, mTORC1 and mTORC2, which interact with each other and with several elements of other signaling pathways. In the past few years, many new insights into mTOR function and regulation have been gained and extensive genetic and pharmacological studies in mice have enhanced our understandi

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… PTEN expression is downregulated in many human cancers through several mechanisms which include mutation, Loss Of Heterozygosity (LOH), protein instability, methylation and cellular sublocalization [ 126 ]. … Of Heterozygosity LPS | LipoPolySaccharide MAPK | Mitogen Activated Protein Kinase MCL | Mantle Cell Lymphoma Mdm2 | Mouse double minute 2 homolog MEK | Mitogen-activated protein kinase kinase mLST8 | Regulatory-associated protein of mTOR MM | Multiple Myeloma MPN | Myelo Proliferative Neoplasms mRCC …

Role of Protein Kinase CK2 in Aberrant Lipid Metabolism in Cancer.

Uncontrolled proliferation is a feature defining cancer and it is linked to the ability of cancer cells to effectively adapt their metabolic needs in response to a harsh tumor environment. Metabolic reprogramming is considered a hallmark of cancer and includes increased glucose uptake and processing, and increased glutamine utilization, but also the deregulation of lipid and cholesterol-associated signal transduction, as highlighted in recent years. In the first part of the review, we will i) provide an overview of the major types of lipids found in eukaryotic cells and their importance as med

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… What is strikingly observed in ccRCC is that 14 metabolic genes displayed a simultaneous loss of heterozygosity (compared to the normal kidney) in regions located on chromosome 3p affecting the expression of genes regulating glycerophospholipids metabolism, oxidative phosphorylation, nucleotide and inositol … Chromosome 3p loss of heterozygosity is associated with a unique metabolic network in clear cell renal carcinoma. Proc. Natl. Acad. Sci. USA. 2014;111:866–875. doi: 10.1073/pnas.1319196111. 89. …

Identification of Plasma Protein Biomarkers and Drug Targets for Hematologic Malignancies by Proteome-wide Mendelian Randomization.

Background: It has been reported that the proteome in blood was an important source for biomarker and therapeutic target discovery. However, up to now, few proteomes have been identified with the risk of hematologic malignancies. Methods: Genome-wide association studies (GWASs) including 3,083 plasma proteins are based on data from 54,219 people in the UK Biobank Pharma Proteomics Project (UKB-PPP) and 35,559 individuals from Iceland (deCODE). Genetic correlations with 33 hematologic malignancies were derived from the FinnGen cohort and the UK Biobank Data. Further studies, including Bayesian

Abstracts of the 12th European Cytogenomics Conference 2019 : Salzburg, Austria. 6-9 July 2019

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Получил от "Puff of Domoke"-A Case-Review on the Challenging Discrimination of CNS Demielining Beace and Moyamoya Angiopatia.

Moyamoya aнгиопатия (MMA) — цереброваскулярное заболевание, определяющее хроническое прогрессивное включение надклиноидных внутренних артерий сонной артерии и их основных веток. Патогенез ММА по-прежнему в значительной степени неизвестен. Множественный склероз (MS) является хроническим, подстрекательским и демиелинизирующим заболеванием центральной нервной системы, характеризующимся постепенным накоплением фокусных демиелионирующих повреждений, патофизиология которых была теоретической, но до сих пор не до конца понята. Помимо неправильной диагностики из-за имитирующих эти два расстройства осо

Advances in the understanding of IgM monoclonal gammopathy of undetermined significance.

Among monoclonal gammopathies of undetermined significance (MGUSs), the immunoglobulin M (IgM) MGUS subtype stands as a unique entity and plays a pivotal role as a pre-malignant condition for multiple B-cell non-Hodgkin lymphomas, most notably Waldenström macroglobulinemia (WM). A relationship between IgM MGUS and WM has been proposed for decades. However, insight regarding the pathobiology of these two conditions improved significantly in recent years, strengthening the hypothesis that WM and IgM MGUS are different stages of the same disease. Therefore, the understanding of IgM MGUS and that

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… A genome-wide study of copy number abnormalities (CNAs) and loss of heterozygosity (LOH) using microarray technology identified deletion 6q(23.3–25.3) and +18q(22.1) as the most common structural abnormalities (detected in 16% and 14% of all patients, respectively). …

Targeted therapy for advanced Basal-cell carcinoma: vismodegib and beyond.

Basal-cell carcinoma is a commonly occurring skin malignancy that has the potential to progress into locally invasive or resistant disease, as well as spread distantly. Due to advances in the molecular understanding of the disease over the last two decades, it has been discovered that the Hedgehog pathway plays an important role in the pathogenesis of this disease and can be exploited as a treatment target. Several agents that inhibit the Hedgehog pathway have reached clinical studies and one drug, vismodegib, has recently been US Food and Drug Administration (FDA) approved based on clinical a

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… Correlative molecular studies in select patients showed mutations in the PTCH1 gene in nine of ten specimens analyzed, loss of heterozygosity of the PTCH1 gene in one patient’s tumor, SMO-M2 mutations in one patient, PTCH1 mutations in normal skin of a patient with basal-cell nevus syndrome, and elevated …

Prognostic heterogeneity and clonal dynamics within distinct subgroups of myelodysplastic syndrome and acute myeloid leukemia with TP53 disruptions.

TP53 aberrations constitute the highest risk subset of myelodysplastic neoplasms (MDS) and acute myeloid leukemia (AML). The International Consensus Classification questions the blast threshold between MDS and AML. In this study, we assess the distinction between MDS and AML for 76 patients with TP53 aberrations. We observed no significant differences between MDS and AML regarding TP53 genomics. Median overall survival (OS) was 223 days for the entire group, but prognostic discrimination within subgroups showed the most inferior OS (46 days) for AML with multihit allelic state plus TP53 varian

A phase I study of single-agent perifosine for recurrent or refractory pediatric CNS and solid tumors.

The PI3K/Akt/mTOR signaling pathway is aberrantly activated in various pediatric tumors. We conducted a phase I study of the Akt inhibitor perifosine in patients with recurrent/refractory pediatric CNS and solid tumors. This was a standard 3+3 open-label dose-escalation study to assess pharmacokinetics, describe toxicities, and identify the MTD for single-agent perifosine. Five dose levels were investigated, ranging from 25 to 125 mg/m2/day for 28 days per cycle. Twenty-three patients (median age 10 years, range 4-18 years) with CNS tumors (DIPG [n = 3], high-grade glioma [n = 5], medulloblast

Mutation profile and chromosomal abnormality in adenomyosis.

In briefBy tissue-selective next-generation sequencing, we showed that adenomyotic epithelium harbored genomic alterations thought to be relevant to the development and progression of adenomyosis, including somatic mutations in several cancer-associated genes with high mutant allele frequencies and the gain of chromosome 1q. Clonal relationships among multiple adenomyotic lesions and the normal uterine endometrium delineate the oligoclonal origin of adenomyosis and the spatial expansion of mutant clones.AbstractTo identify the distinctive features of mutation profiles in adenomyosis compared t

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… Unlike our previous studies on endometriosis and endometrial glands ( Suda et al. 2018 , Yamaguchi et al. 2022 ), we could not detect any loss of heterozygosity (LOH) in adenomyosis. …

Biochemical and Metabolical Pathways Associated with Microbiota-Derived Butyrate in Colorectal Cancer and Omega-3 Fatty Acids Implications: A Narrative Review.

Knowledge regarding the influence of the microbial community in cancer promotion or protection has expanded even more through the study of bacterial metabolic products and how they can modulate cancer risk, which represents an extremely challenging approach for the relationship between intestinal microbiota and colorectal cancer (CRC). This review discusses research progress on the effect of bacterial dysbiosis from a metabolic point of view, particularly on the biochemical mechanisms of butyrate, one of the main short chain fatty acids (SCFAs) with anti-inflammatory and anti-tumor properties

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… Therefore, in the superficial parts of the crypts, there are dysplastic epithelial cells which present a markedly abnormal pattern of Ki-67 proliferation and genetic alterations of APC locus (loss of heterozygosity) leading to functional changes in β-catenin expression and localization, these mutant …

Emerging Immunotherapy and Antibody-Derived Therapeutics for the Treatment of Advanced Non-Small-Cell Lung Cancer: A Review.

Background: In the last decade, a surge of advancements in and approvals of immunotherapies has revolutionized the treatment of non-small-cell lung cancer (NSCLC). Even as an increasing number of immune checkpoint inhibitors and antibody-drug conjugates gained FDA approval for the remarkable response and durable remission they imparted to some patients, persistent challenges of primary and acquired resistance, imperfect predictive biomarkers, and toxicity remain. Methods: This review identifies and summarizes the most significant emerging clinical data being reported for immunotherapies in NSC

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… EVEREST-2: Initial Data of the Logic-gated Tmod Chimeric Antigen Receptor T-cell (CAR T) Therapy A2B694 for Patients with Solid Tumors Associated with Mesothelin (MSLN) Expression and with Human Leukocyte Antigen (HLA) Loss of Heterozygosity (LOH) Proceedings of the 2025 ASCO Annual Meeting Chicago, … EVEREST-2: Initial Data of the Logic-Gated Tmod Chimeric Antigen Receptor T-Cell (CAR T) Therapy A2B694 for Patients with Solid Tumors Associated with Mesothelin (MSLN) Expression and with Human Leukocyte Antigen (HLA) Loss of Heterozygosity (LOH) J. Clin. …

Emergence of immunotherapy as a novel way to treat hepatocellular carcinoma.

Tumor immunity proceeds through multiple processes, which consist of antigen presentation by antigen presenting cells (APCs) to educate effector cells and destruction by the effector cytotoxic cells. However, tumor immunity is frequently repressed at tumor sites. Malignantly transformed cells rarely survive the attack by the immune system, but cells that do survive change their phenotypes to reduce their immunogenicity. The resultant cells evade the attack by the immune system and form clinically discernible tumors. Tumor microenvironments simultaneously contain a wide variety of immune suppre

The trinity of T cell engagement: navigating the molecular and clinical landscape of CAR-T, TILs, and TCEs in the war against cancer.

The advent of cancer immunotherapy has fundamentally restructured the oncological paradigm, moving away from agents that directly target tumor cell kinetics toward strategies that empower the host immune system to recognize and eliminate malignancy. Central to this revolution is the cytotoxic T lymphocyte (CTL), now harnessed as a potent "living drug" through engineered and naturally selected modalities. This review provides a critical, in-depth examination of the three dominant pillars of T cell-driven therapies: Chimeric Antigen Receptor T-cell (CAR-T) therapy, Tumor-Infiltrating Lymphocyte

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… The loss of heterozygosity at the HLA locus is a frequent mechanism of resistance that specifically impairs TIL and TCR-T efficacy while potentially leaving CAR-T—which functions in an HLA-independent manner—as the only viable cellular option ( 115 ). …

mRNA Vaccines: Current Applications and Future Directions.

Messenger RNA (mRNA) vaccines, as a novel class of biotherapeutics, leverage mRNA technology to instruct cells to produce specific antigens, thereby inducing an immune response. In recent years, significant progress has been made in applying these vaccines to infectious disease prevention and cancer treatment. Compared with traditional vaccines, mRNA vaccines offer high programmability, as well as greatly enhanced stability and immunogenicity, achieved through nucleotide modifications and advanced delivery systems such as lipid nanoparticles. However, many challenges remain in the design and d

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… Using advanced computational tools, McGranahan et al. [ 113 ] identified loss of heterozygosity in HLA genes among patients with NSCLC and found that approximately 40% of patients exhibited this phenomenon, resulting in diminished neoantigen presentation and further facilitating immune escape. … In studies of lung cancer patients resistant to PD‐1 therapy, Gettinger et al. [ 114 ] found that certain tumors exhibited loss of heterozygosity for β2m, resulting in a lack of HLA class I molecule expression on the cell surface, while others showed downregulation of β2m expression. …

Precision Reprogramming in CAR-T Cell Therapy: Innovations, Challenges, and Future Directions of Advanced Gene Editing.

Chimeric antigen receptor (CAR)-T cell therapy represents a breakthrough in cancer immunotherapy, demonstrating impressive clinical outcomes, particularly for hematologic malignancies. However, its broader therapeutic application, especially against solid tumors, remains limited. Key challenges include T cell exhaustion, limited persistence, cytokine-mediated toxicities, and logistical hurdles associated with manufacturing autologous products. Emerging gene editing technologies, such as CRISPR/Cas systems, base editing, and prime editing, offer novel approaches to optimize CAR-T cells, aiming

Current Landscape of Genome-Wide Association Studies in Acute Myeloid Leukemia: A Review.

Acute myeloid leukemia (AML) is a clonal hematopoietic disease that arises from chromosomal and genetic aberrations in myeloid precursor cells. AML is one of the most common types of acute leukemia in adults; however, it is relatively rare overall, comprising about 1% of all cancers. In the last decade or so, numerous genome-wide association studies (GWAS) have been conducted to screen between hundreds of thousands and millions of variants across many human genomes to discover genetic polymorphisms associated with a particular disease or phenotype. In oncology, GWAS has been performed in almos

Hypophosphatasia: Results of a Country-Wide Selective Screening Program Using NGS Technology as a First-Tier Test.

Hypophosphatasia (HPP) is a rare hereditary metabolic disorder caused by nucleotide variants (NVs) in the ALPL gene, leading to a deficiency of tissue-nonspecific alkaline phosphatase (TNSALP). HPP has a variable clinical presentation (such as impaired mineralization of bones and teeth, respiratory dysfunctions, muscle weakness, muscle and bone pain, growth deficiency, nephrocalcinosis, seizures, encephalopathy, intracranial hypertension, and intellectual disability) overlapping with other disorders which often delays a correct diagnosis. In this study, we present the results of a two-center (