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Sex Differences in Multiple Myeloma Biology but not Clinical Outcomes: Results from 3894 Patients in the Myeloma XI Trial.

BackgroundSex differences in the incidence and outcomes of several cancers are well established. Multiple myeloma (MM) is a malignant plasma cell dyscrasia accounting for 2% of all new cancer cases in the UK. There is a clear sex disparity in MM incidence, with 57% of cases in males and 43% in females. The mechanisms behind this are not well understood and the impact of sex on patient outcomes has not been thoroughly explored.Patients and methodsWe investigated the association of sex with baseline disease characteristics and outcome in 3894 patients recruited to the phase III UK NCRI Myeloma X

Epigenetic profiling reveals key super-enhancer networks driving oncogenesis in HPV-positive HNSCC.

Human papillomavirus-positive (HPV+) head and neck squamous cell carcinoma (HNSCC) is a growing subset of cancer cases distinct from HPV-negative by fewer genetic mutations and prevalent epigenetic dysregulation. We mapped H3K27ac-marked super-enhancers (SEs) via ChIP-seq in HPV+ patient-derived xenografts (PDXs) and normal oropharyngeal mucosa, identifying tumor-specific SE domains (T-SEDs) enriched for transcription factors (TFs) including TP63, FOSL1, and JUND. These SE-associated TFs regulate key oncogenic pathways and are downregulated by BRD4 inhibition with JQ1, highlighting sensitivity

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… (G) Presents gene ontology enrichment analysis (biological process terms) for the core set, with top terms including mitotic nuclear division, chromosome segregation, and G2/M checkpoint regulation. Dot size reflects the number of genes per term; all terms shown have adjusted p -values <0.001. … These annotations indicate that HPV+ tumor super-enhancers coordinate a G2/M checkpoint and chromosomal segregation program that is selectively repressed by BRD4 inhibition. …

Molecular cytogenetic characterization of canine histiocytic sarcoma: A spontaneous model for human histiocytic cancer identifies deletion of tumor suppressor genes and highlights influence of genetic background on tumor behavior.

BackgroundHistiocytic malignancies in both humans and dogs are rare and poorly understood. While canine histiocytic sarcoma (HS) is uncommon in the general domestic dog population, there is a strikingly high incidence in a subset of breeds, suggesting heritable predisposition. Molecular cytogenetic profiling of canine HS in these breeds would serve to reveal recurrent DNA copy number aberrations (CNAs) that are breed and/or tumor associated, as well as defining those shared with human HS. This process would identify evolutionarily conserved cytogenetic changes to highlight regions of particula

Atlas (Human Microglia Atlas) раскрывает изменения в связанных с болезнями микроглиях в нейродегенеративных условиях.

Регулируемая микроглией активация, приводящая к нейроинфламмации, имеет решающее значение для развития и развития нейродегенеративных заболеваний. Мы построили атлас человеческих иммунных клеток мозга за счет интеграции nineteen Однонуклеусный RNA-seq и одноклеточные наборы данных RNA-seq из многочисленных нейродегенеративных условий, включая 241 образцы от пациентов с болезнью Альцгеймера, расстройством аутистического спектра, эпилепсией, множественным склерозом, заболеваниями тела Льюи, COVID-19, и здоровый контроль. Комплексный Human Microglia Atlas (HuMicA) включает в себя: 90,716 Ядра/кле

Chromosome 1q21 abnormalities in multiple myeloma.

Gain of chromosome 1q (+1q) is one of the most common recurrent cytogenetic abnormalities in multiple myeloma (MM), occurring in approximately 40% of newly diagnosed cases. Although it is often considered a poor prognostic marker in MM, +1q has not been uniformly adopted as a high-risk cytogenetic abnormality in guidelines. Controversy exists regarding the importance of copy number, as well as whether +1q is itself a driver of poor outcomes or merely a common passenger genetic abnormality in biologically unstable disease. Although the identification of a clear pathogenic mechanism from +1q rem

A Comprehensive Analysis Revealing BUB1B as a Potential Prognostic and Immunological Biomarker in Lung Adenocarcinoma.

BUB1B, a member of the spindle assembly checkpoint family known as BUB1 mitotic checkpoint serine/threonine kinase B, has been associated with the promotion of tumor progression. Nevertheless, its specific contributions to tumorigenesis remain largely unexplored. This study seeks to offer a systematic and comprehensive analysis of the role of BUB1B in the progression of various cancers, with a particular focus on lung adenocarcinoma, utilizing a range of databases. We investigated BUB1B's role in pan-cancer using TCGA data, analyzing it with platforms like HPA, TIMER, TISIDB, GEPIA, cBioPortal

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… Given the essential function of BUB1b in the regulation of chromosome segregation, abnormal expression levels of BUB1b may result in chromosomal instability and an increased incidence of cancer [ 16 ]. …

Multiple myeloma: an overview of management.

Multiple myeloma represents 2% of all new cancer diagnoses in the United Kingdom and accounts for 2% of all cancer deaths. In the past few decades, there have been huge improvements in life expectancy which have been driven by novel therapeutic agents, autologous stem cell transplants and intensified supportive care. This review will discuss the pathogenesis of multiple myeloma, current management approaches and the direction of future treatments. In addition, this review will highlight the high burden of symptoms that patients experience and therefore the great benefits that can be gained fro

Chronic granulomatous disease secondary to a rare compound heterozygote mutation in an adolescent cured by hematopoietic stem cell transplantation: a case report.

BackgroundChronic granulomatous disease (CGD) is a rare inherited primary immunodeficiency characterized by recurrent infections and aberrant inflammation due to defects in the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex.Case presentationWe report a case of recurrent pneumonia and significantly elevated IgE levels in an adolescent. Metagenomic next-generation (mNGS) sequencing contributed to the identification of Burkholderia multivorans in bronchoalveolar lavage fluid and the initiation of appropriate treatment. Whole exome sequencing (WES) revealed two point mutations

Telomere length and survival in primary cutaneous melanoma patients.

Telomere repeats at chromosomal ends, critical to genomic integrity, undergo age-dependent attrition. Telomere length, a polygenic trait, has been associated with risk of several disorders including cancers. In contrast to association of long telomeres with increased risk of several cancers, including melanoma, emerging reports suggest that short telomeres predict poor survival in patients with different cancers. In this study based on 1019 stage I and II cutaneous melanoma patients, we show an association between the patients with short telomeres and poor melanoma-specific survival (HR 2.05,

Molecular Inhibitors of Growth Signals

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Взаимодействие полов и генотипов в ассоциациях по борьбе с заболеваниями: комплексный сетевой анализ в Биобанке Соединенного Королевства.

СПРАВОЧНАЯ ИНФОРМАЦИЯ: Сопоставимость заболеваний и более долгосрочные осложнения, обусловленные биологическими связями между фенотипами, могут привести к повышению риска серьезных последствий для здоровья. С учетом того, что многие болезни отличаются по признаку пола в их генетике, наша цель состояла в том, чтобы определить, влияют ли связи генотипа в разбивке по полу (GxS) аналогичным образом на межфенотипные ассоциации. Путем сопоставления сетей по борьбе с болезнями, которые были зарегистрированы на сексуальной почве, где узлы представляют собой болезни и края, представляют собой их взаимо

The Role of t(11;14) in Tailoring Treatment Decisions in Multiple Myeloma.

Multiple myeloma (MM) represents a hematological neoplasia with an uncontrolled proliferation of malignant plasma cells and complex cytogenetic abnormalities. t(11;14) has emerged as a crucial genetic aberration and is one of the most common primary translocations in MM. Patients harboring t(11;14) represent a distinctive subgroup with a clinical profile that differs from t(11;14)-negative MM risk categories. One of the key features linked with t(11;14) is the BCL2 dependency, indicating vulnerability to BCL2 inhibition. BCL2 inhibitors, such as venetoclax, demonstrated impressive efficacy alo

Wnt/β-catenin signaling pathway: proteins' roles in osteoporosis and cancer diseases and the regulatory effects of natural compounds on osteoporosis.

Osteoblasts are mainly derived from mesenchymal stem cells in the bone marrow. These stem cells can differentiate into osteoblasts, which have the functions of secreting bone matrix, promoting bone formation, and participating in bone remodeling. The abnormality of osteoblasts can cause a variety of bone-related diseases, including osteoporosis, delayed fracture healing, and skeletal deformities. In recent years, with the side effects caused by the application of PTH drugs, biphosphonate drugs, and calmodulin drugs, people have carried out more in-depth research on the mechanism of osteoblast

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… K B Kaplan et al. found that chromosome segregation in cells is closely linked to the APC gene, and that carrying a shortened APC gene results in defective chromosome segregation, and that during mitosis, APC localizes to the ends of micro- tubules embedded in kinetochores and forms a complex with the …

European Myeloma Network recommendations on tools for the diagnosis and monitoring of multiple myeloma: what to use and when.

The diagnosis of multiple myeloma can be challenging, even for experienced physicians, and requires close collaboration between numerous disciplines (orthopedics, radiology, nuclear medicine, radiation therapy, hematology and oncology) before the final diagnosis of myeloma is made. The definition of multiple myeloma is based on the presence of clinical, biochemical, histopathological, and radiological markers of disease. Specific tests are needed both at presentation and during follow-up in order to reach the correct diagnosis and characterize the disease precisely. These tests can also serve

Allograft for Myeloma: Examining Pieces of the Jigsaw Puzzle.

Multiple myeloma (MM) cure remains elusive despite the availability of newer anti-myeloma agents. Patients with high-risk disease often suffer from early relapse and short survival. Allogeneic hematopoietic cell transplantation (allo-HCT) is an "immune-based" therapy that has the potential to offer long-term remission in a subgroup of patients, at the expense of high rates of transplant-related morbidity and mortality. Donor lymphocyte infusion (DLI) upon disease relapse after allo-HCT is able to generate an anti-myeloma response suggestive of a graft-versus-myeloma effect. Allo-HCT provides a

Machine learning-based identification of co-expressed genes in prostate cancer and CRPC and construction of prognostic models.

The objective of this study was to employ machine learning to identify shared differentially expressed genes (DEGs) in prostate cancer (PCa) initiation and castration resistance, aiming to establish a robust prognostic model and enhance understanding of patient prognosis for personalized treatment strategies. mRNA transcriptome data associated with Castration-Resistant Prostate Cancer (CRPC) were obtained from the GEO database. Differential expression analysis was conducted using the limma R package to compare normal prostate samples with PCa samples, and PCa samples with CRPC samples. Next, w

Множественный склероз Полигенный риск не обогащается в Three Множественные семьи в сопоставлении с демографическими случаями.

Множественный склероз (MS) — сложное неврологическое и аутоиммунное заболевание с установленным генетическим компонентом. Семьи с множественными случаями MS встречаются редко, но это происходит. Мы гипотезуем, что многодетные семьи могут иметь повышенный полигенный риск для MS. В ходе этой работы мы определили, обогащается ли полигенный риск для НР в многодетных семьях по сравнению с когортой контроля за конкретными случаями. Используя результаты крупнейшего исследования, проведенного в рамках ассоциации по геному MS, мы рассчитали взвешенный показатель полигенного риска (wPRS) для MS. Мы прим

A brief clinical genetics review: stepwise diagnostic processes of a monogenic disorder-hypertriglyceridemia.

The completion of the Human Genome Project and tremendous advances in automated high-throughput genetic analysis technologies have enabled explosive progress in the field of genetics, which resulted in countless discoveries of novel genes and pathways. Many phenotype- or disease-associated single nucleotide polymorphisms (SNPs) with a high statistical significance have been identified through numerous genome-wide association studies (GWAS), and various polygenic risk scoring (PRS) schemes have been proposed to identify individuals with a high risk for a certain trait or disorder. Meanwhile, me

Clinical characteristics and outcomes of IgD myeloma: experience across UK national trials.

Immunoglobulin D (IgD) myeloma is a subtype often considered to have adverse features and inferior survival, but there is a paucity of data from large clinical studies. We compare the clinical characteristics and outcomes of patients with IgD myeloma from UK phase 3 myeloma trials analyzed in 2 groups: old (1980-2002) and recent (2002-2016) clinical trials, based on the time of adoption of novel myeloma therapies. Patients with IgD myeloma comprised 44 of 2789 (1.6%) and 70 of 5773 (1.2%) of the old and recent trials, respectively. Overall, IgD myeloma was associated with male predominance, lo

Tumor-Treating Fields in Glioblastomas: Past, Present, and Future.

Tumor-treating fields (TTFields), a noninvasive and innovative therapeutic approach, has emerged as the fourth most effective treatment option for the management of glioblastomas (GBMs), the most deadly primary brain cancer. According to on recent milestone randomized trials and subsequent observational data, TTFields therapy leads to substantially prolonged patient survival and acceptable adverse events. Clinical trials are ongoing to further evaluate the safety and efficacy of TTFields in treating GBMs and its biological and radiological correlations. TTFields is administered by delivering l

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… Mitotic spindle disruption by alternating electric fields leads to improper chromosome segregation and mitotic catastrophe in cancer cells. Sci. Rep. 2015;5:18046. doi: 10.1038/srep18046. 38. Li X., Yang F., Rubinsky B. …