Latest Research
All publications from the Cancer3.AI database, newest first.
Profiling the onco-metabolic nexus and improving cancer risk prediction performance: a large-scale cohort and genome-wide pleiotropic analysis.
Ji X, et al
Researchers conducted a large-scale cohort and genome-wide study to map the genetic and clinical connections between metabolic traits — such as waist-to-hip ratio, blood lipids, and body composition — and multiple cancer types, aiming to improve early cancer risk prediction. Using data from hundreds of thousands of individuals, the team applied multivariable survival models, genetic correlation analyses, and genomic structural equation modeling to identify 41 significant genetic links between metabolic and cancer traits across 405 genomic regions, with 17 pairs showing evidence of causal relationships. Among the notable findings, a higher waist-to-hip ratio was associated with a 34% increased risk of colorectal cancer, underscoring how obesity-related metabolic disturbances directly elevate cancer susceptibility. The researchers then developed integrative polygenic risk scores that incorporated these shared genetic pathways, with the model for kidney cancer explaining nearly 14% of disease variance — a meaningful improvement over standard approaches. These findings deepen our understanding of the biological overlap between metabolic disorders and cancer, and suggest that combining metabolic genetic data with cancer polygenic scores can substantially sharpen population screening and risk stratification tools for clinicians.
Cancer research communications
Source →Acquired Hemophilia A Associated with Post-Essential Thrombocythemia Myelofibrosis: A Rare Autoimmune Bleeding Complication.
Kır S, et al
This report from the Turkish Journal of Haematology describes a rare and serious case in which a patient with post-essential thrombocythemia myelofibrosis developed acquired hemophilia A, an autoimmune condition in which the body produces antibodies that neutralize clotting factor VIII. Acquired hemophilia A is an uncommon bleeding disorder that can arise as a complication of underlying malignancies or autoimmune diseases, but its association with myelofibrosis evolving from essential thrombocythemia is exceptionally rare. The case highlights the diagnostic challenge clinicians face when a myeloproliferative neoplasm patient presents with unexpected or severe bleeding, as acquired hemophilia A can be overlooked without targeted laboratory testing for factor inhibitors. Early recognition is critical because the condition carries significant morbidity and mortality if untreated, requiring immunosuppressive therapy to eliminate the inhibitor alongside hemostatic agents to control acute bleeding. This publication serves as an important reminder for hematologists to consider autoimmune bleeding complications in patients with myeloproliferative disorders who develop unexplained hemorrhagic symptoms.
Turkish journal of haematology : official journal of Turkish Society of Haematology
Source →[Advances in molecular genetic research on Myelodysplastic syndrome].
Wu T, et al
This review article examines the molecular genetic landscape of Myelodysplastic syndrome (MDS), a chronic blood disorder in which the bone marrow fails to produce healthy blood cells effectively. Researchers surveyed the growing body of evidence generated by next-generation sequencing (NGS) technologies, which have dramatically expanded understanding of how MDS develops at the genetic level. The review identifies key mutated genes involved in RNA splicing, DNA methylation, transcriptional regulation, signal transduction, chromatin modification, and the cohesin complex as central drivers of the disease. Importantly, several of these mutations have direct clinical relevance, informing how MDS is diagnosed, how patients are stratified for treatment, and what prognosis they can expect. By consolidating current knowledge of MDS molecular abnormalities, this work provides clinicians and researchers with a practical reference for integrating genetic findings into comprehensive diagnostic and therapeutic decision-making.
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Source →Contrasting impacts of pretransplant cytoreduction and post-transplant maintenance on outcomes of allogeneic haematopoietic stem cell transplantation in myelodysplastic syndromes: Real-world multicentre evidence.
Chen Y, et al
A new real-world study published in the British Journal of Haematology examined factors influencing outcomes in 215 patients with high-risk myelodysplastic syndrome (MDS) who underwent allogeneic haematopoietic stem cell transplantation (allo-HSCT), the only currently available curative treatment for this serious blood disorder. Researchers found that genetic factors such as TP53 mutations, complex chromosomal abnormalities, and detectable residual disease after pre-transplant chemotherapy were associated with a higher risk of relapse. Surprisingly, the use of chemotherapy before transplant to reduce disease burden did not measurably improve overall patient outcomes. In contrast, maintenance therapy given after transplantation significantly reduced relapse rates and prolonged relapse-free survival. Additionally, transplant-related factors — specifically using a younger donor (under 42 years of age) and infusing a higher dose of stem cells — were independently linked to better outcomes. These findings provide clinicians with actionable, modifiable strategies to improve survival in MDS patients undergoing transplantation.
British journal of haematology
Source →Treatment of Diffuse Large B-Cell Lymphoma.
Falade AS, et al
This review article, published in Mayo Clinic Proceedings, provides a comprehensive overview of the diagnosis and treatment of diffuse large B-cell lymphoma (DLBCL), the most common subtype of non-Hodgkin lymphoma, accounting for 30 to 40 percent of cases worldwide. The authors describe how gene expression profiling has revealed distinct molecular subtypes of DLBCL with different prognoses and treatment implications, and how frontline therapy centers on the R-CHOP regimen, with polatuzumab vedotin substitution offering benefit for select patients. For relapsed or refractory disease, the review highlights that CAR-T cell therapy has become the preferred approach for patients with early or refractory relapse, while autologous stem cell transplantation remains the standard for late relapse, and newer agents such as bispecific antibodies and antibody-drug conjugates are available for subsequent lines of therapy. A key clinical milestone highlighted is event-free survival at 24 months, which serves as a strong surrogate for long-term survival and, when achieved, correlates with outcomes comparable to the general population. This summary is clinically valuable for oncologists and hematologists seeking an up-to-date, evidence-based framework for risk-adapted, personalized management of DLBCL across all disease stages and patient populations.
Mayo Clinic proceedings
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