Lipid metabolic reprogramming is a hallmark of cancer, in which fatty acid synthesis is crucial for the rapid proliferation and metastasis of cancer cells. The p53-R280K mutation drives aggressive cancer, yet its role in fatty acid synthesis remains unclear.

Acute lymphoblastic leukemia is the most common pediatric hematological disease representing less than 1% of hematological diseases in adults. The prognosis of ALL improved significantly in the last decades. Almost all patients require a therapy at the time of diagnosis. Rare cases of spontaneous remission of ALL have been described. We report a case of B-ALL that underwent spontaneous remission after an episode of infection and describe the cytogenetic changes associated with this uncommon clinical presentation of B-ALL.

Pancreatic cancer (PC) is a highly lethal malignancy. 4-10% are linked to inherited mutations in genes such as BRCA1/2, PALB2, ATM and mismatch repair (MMR) genes. Germline testing is essential to guide treatment decisions, yet delays remain common. Genetic testing models without pre-test assessment in a Hereditary Cancer Unit (HCU), have emerged as a strategy to improve earlier clinical decision-making. A retrospective, observational and descriptive study was conducted on 223 PC patients (55% male; average age 64 years) who underwent rapid germline genetic testing at Hospital General Universitario Gregorio Marañón (Madrid, Spain) between April 2019 and May 2024. Tests were ordered by oncologists with brief pre-test counseling, followed by a nurse-facilitated consent and peripheral blood collection. Post-test counseling in an HCU was offered for patients with variants of unknown significance (VUS) and pathogenic/likely pathogenic variants (PV), or upon physician or patient request. PV and VUS were identified in 32 (14.3%) and 82 (36.7%) patients, respectively. 50% of PV carriers did not meet familial PC criteria. Actionable mutations were detected in 14 (43.7%) of PV carriers, involving BRCA2 (6/32), PALB2 (1/32) and ATM (7/32). Treatment modifications occurred in 7/223 patients (3%), including PARP inhibitors or platinum-based regimens. Median time from the genetic test request to the results was 48 days (95% CI, 44-52). Mainstream genetic testing in PC is a viable approach to expedite results and facilitate precision oncology. Further studies are needed to evaluate long-term outcomes, cost-effectiveness and the psychosocial impact compared to traditional genetic counseling pathways.

Lactylation, a unique post-translational alteration, has been identified as an important epigenetic regulator of cancer metabolism, immune evasion, and treatment resistance. Recent research reveals that ultrasound-based biophysical stimulation may change tumor microenvironmental variables that affect lactate metabolism and subsequent lactylation processes. The purpose of this study was to better understand the predictive significance of lactylation-associated genes in lung adenocarcinoma (LUAD) and how they could interact with ultrasound-mediated treatment response.

In recent years, the clinical relevance of tertiary lymphoid structures (TLS) in cancer has become increasingly clear. However, the mechanisms that promote TLS development have remained obscure, largely because of a lack of animal models in which cause and effect studies can be performed. In this study, we used a mouse model in which TLS develop spontaneously in intraperitoneal tumors to address this issue.

Breast cancer (BC) is one of the most common and deadly cancers affecting women worldwide. This study is aimed at investigating the association between BC risk and two single nucleotide polymorphisms (SNPs): ESR1 (rs2234693) and PIK3CA (rs6443624) in a Bangladeshi population. A case-control study was conducted with 112 BC patients and 124 healthy controls (HCs). Genomic DNA was extracted from peripheral blood samples, and genotyping was performed using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Genotype and allele frequencies were analyzed to assess their association with BC risk. Genotype distributions for both ESR1 and PIK3CA conformed to Hardy-Weinberg equilibrium. The CT genotype of ESR1 was associated with a reduced risk of BC, whereas the CA genotype of PIK3CA was linked to an increased risk. The dominant model for ESR1 (CT + TT vs. CC) demonstrated a significant protective effect (aOR = 0.288, 95% CI: 0.160-0.516), whereas the dominant model for PIK3CA (CA + CC vs. AA) showed a higher risk (aOR = 4.166, 95% CI: 2.363-7.347). Over-dominant models supported these findings, while recessive models for both SNPs showed no significant associations. The findings suggest that ESR1 (rs2234693) may have a protective role and PIK3CA (rs6443624) may increase susceptibility to BC in Bangladeshi women. These SNPs may provide preliminary evidence for potential use as genetic susceptibility markers, but larger multicenter studies are needed before any clinical application can be considered.

The functional plasticity of tumor-associated macrophages (TAMs) is a critical determinant of the immunosuppressive microenvironment in cervical cancer, yet its integration into actionable prognostic frameworks remains limited. This study aimed to establish a TAM polarization-centered model and elucidate the mechanisms of underlying tumor-immune crosstalk.

Differentiating neoplastic proliferation from inflammatory fibrosis in peripheral nerve hypertrophy is critical. We report a patient with a neurofibromatosis type 1 (NF1) deletion exhibiting extreme diffuse nerve enlargement and chronic inflammatory demyelinating polyradiculoneuropathy (CIDP)-like autoimmunity. This study aims to elucidate the underlying endoneurial fibrotic mechanism, specifically focusing on the signaling networks between Schwann cells (SCs) and fibroblasts.

Patients with epidermal growth factor receptor (EGFR)-mutant lung adenocarcinoma who develop resistance to first-generation tyrosine kinase inhibitors (TKIs) without a T790M mutation face a therapeutic dilemma with limited and suboptimal options.

CD117 (c-KIT) is a tyrosine kinase receptor protein, mutations in which are important in the tumourigenesis of gastrointestinal stromal tumour (GIST). Immunohistochemical detection of CD117 is the primary identifying feature in its diagnosis.

Polycystic ovary syndrome (PCOS) is a prevalent endocrinopathy in reproductive-aged women having both gynecological and metabolic comorbidities. PCOS increases the risk of cardiovascular and thromboembolic diseases due to heightened prothrombotic states, suggesting shared genetic determinants with thrombophilia. In addition, convergence of these polymorphisms to insulin resistance, a hallmark feature of PCOS, may exacerbate PCOS risk and further intensify hypercoagulability-associated metabolic and reproductive manifestations.

Gastric cancer (GC) pathogenesis involves complex molecular interactions that remain incompletely understood at a biological systems level. While microRNA-21 (miR-21), matrix metalloproteinases (MMPs), and vascular endothelial growth factor (VEGF) have been individually implicated in GC, their integrated role as a coordinated regulatory network remains uncharacterized. And we aim to reveal novel biology systems level insights into the miR-21/MMP/VEGF regulatory axis.

Circulating mitochondrial DNA is being investigated as a liquid-biopsy biomarker because of its high copy number and release during cellular stress. However, diagnostic estimates vary across tumor types and assays, and prognostic studies have measured both cell-free mtDNA and cellular blood-derived mtDNA, which are not analytically equivalent. Non-malignant tissue injury and inflammation may also increase circulating mtDNA, limiting disease specificity.

Classification by the Response Assessment in Neuro-Oncology (RANO) resect group has recently been proposed as a prognostic stratification system for glioblastoma (GBM). However, postoperative T2-weighted/FLAIR (T2W/FLAIR) abnormalities may include edema and surgery-related changes, limiting accurate evaluation of non-contrast-enhancing tumor burden. Therefore, we investigated the prognostic utility of post-chemoradiotherapy (post-CRT) RANO resect classification and T2W/FLAIR volumetric changes in GBM.

The interplay between somatic mutations and copy number alterations influences tumor evolution and prognosis. These alterations are often treated independently, overlooking gene mutant dosage (GMD)-a key property of their interaction. Here we develop a computational framework that infers mutation copy number and multiplicity from targeted sequencing panels without requiring matched normal samples. We derive GMD for over 500,000 mutations across 60,000 pan-cancer samples. By stratifying more than 20,000 patients according to GMD across multiple genes, we identify 46 tumor-type-specific biomarkers predictive of survival, 13 of which were undetectable using binary mutant/wild-type models, 26 were associated with metastatic spread and 20 predicted metastatic tropism. Our method reveals GMD patterns as independent predictors of disease prognosis, metastatic potential and site-specific dissemination across diverse tumor types. This augmented insight into genomic drivers enhances our understanding of cancer progression and metastasis and holds the potential to substantially enhance biomarker discovery.

Hepatocellular carcinoma (HCC) remains a major global health burden with limited effective therapeutic strategies. Although chimeric antigen receptor (CAR) T-cell therapy has shown encouraging potential, its efficacy in HCC is profoundly constrained by the immunosuppressive tumor microenvironment.

Adrenocortical carcinoma (ACC) has remained a highly aggressive endocrine malignancy characterized by extensive molecular heterogeneity and limited therapeutic options. In the present study, the regulatory significance of hsa-miR-940, hsa-miR-375, and hsa-miR-326, previously identified as central hubs within an ACC competing endogenous RNA (ceRNA) network, was comprehensively characterized through integrative transcriptomic, prognostic, and pathway-level analyses using TCGA-ACC tumor samples. Network topology analysis, target prediction, survival modeling, pathway enrichment, protein-protein interaction analysis, therapeutic-response evaluation, and pan-cancer expression characterization were subsequently performed to investigate the biological relevance of these central miRNAs. Distinct network-topology differences were identified between tumor and normal ceRNA networks, with hsa-miR-940 demonstrating increased tumor-associated regulatory centrality, whereas hsa-miR-326 exhibited comparatively higher centrality within normal adrenal networks. Survival analyses further demonstrated that elevated expression of the combined three-miRNA signature was associated with significantly reduced overall survival in patients with ACC (HR = 3.52, p = 1.36E-03). Functional enrichment analyses revealed extensive associations with complement activation, steroidogenic regulation, mitochondrial bioenergetics, extracellular matrix remodeling, immune-associated signaling, lipid metabolism, and apoptosis-related pathways. Protein-protein interaction analysis additionally identified highly interconnected immune- and metabolism-associated hub genes, including CCL2, C3, SERPING1, PPARGC1A, and CFH, within the hsa-miR-940 regulatory network. Cross-cancer analyses further demonstrated substantial context-dependent expression heterogeneity across tumor types. The integrative findings presented in this study support the biological plausibility that hsa-miR-940, hsa-miR-375, and hsa-miR-326 may participate in coordinated regulatory programs associated with ACC progression and endocrine tumor adaptation. Insight box This study explores how three small regulatory molecules, known as microRNAs (miR-940, miR-375, and miR-326), may influence the development and progression of adrenocortical carcinoma (ACC), a rare and aggressive adrenal cancer. By analyzing large-scale gene expression data from tumor and normal adrenal tissues, important differences were identified in immune-related, metabolic, and hormone-associated biological processes linked to these microRNAs. The findings suggest that these molecules may contribute to how ACC tumors grow, adapt, and interact with their surrounding environment. This work demonstrates how integrative computational and biological analyses can help uncover potential biomarkers and future therapeutic targets in rare cancers such as ACC.

Aim: The present research set out to investigate the relationship between F53 and interleukins as well as the possible relationship between p53 with the emergence of malignant lesions, specifically colorectal cancer (CRC).

To investigate the expression pattern of lncRNA GSEC in papillary thyroid carcinoma (PTC) and elucidate its functional role and molecular mechanism in regulating glycolytic metabolism and malignant progression.

Well-differentiated and dedifferentiated liposarcoma (WD/DD LPS) represent a pathological continuum, often coexisting within the same tumor. While the dedifferentiated component is clinically aggressive, marked by rapid growth and metastatic potential, the evolutionary relationship between WD and DD LPS remains unknown. To investigate this, we performed single-nucleus RNA sequencing on matched WD and DD tumor regions. Both compartments shared a predominant population of undifferentiated mesenchymal cells, but only WD regions contained cells expressing adipocytic differentiation markers and PPARG target genes. Given the central role of PPARG in coordinating lipid metabolism during adipogenesis, these findings suggest that loss of this program may underlie the poorly differentiated, proliferative phenotype of DD LPS. Functional studies confirmed that PPARG activation in DD LPS cells induces lipid accumulation, reduces proliferation, and impairs tumor growth in vivo. These support a model in which impaired adipogenic differentiation underlies DD LPS pathology and identify PPARG as a potential therapeutic target to promote differentiation and suppress tumor progression.