Latest Research
All publications from the Cancer3.AI database, newest first.
Behçet's syndrome-like features revealing myelodysplastic syndrome with TP53 mutation: a case report.
Pesic A, et al
This case report documents a 36-year-old woman who presented with painful oral and genital ulcers initially attributed to Behçet's syndrome, an autoinflammatory condition, but who was ultimately diagnosed with myelodysplastic syndrome (MDS), a bone marrow cancer. Whole-exome sequencing revealed monoallelic mutations in the TP53 and SF3B1 genes, findings strongly indicative of MDS and capable of explaining the patient's limited response to conventional immunosuppressive therapy. The coexistence of MDS with Behçet's syndrome-like features is an increasingly recognized but poorly understood clinical entity, typically associated with trisomy 8 and characterized by an atypical inflammatory presentation that can delay correct diagnosis. This report demonstrates that comprehensive genomic profiling is essential to distinguish rare hematological malignancies masquerading as autoimmune diseases, allowing for accurate risk stratification and treatment planning. The patient ultimately achieved a successful outcome following allogeneic stem cell transplantation, emphasizing that timely molecular diagnosis can be life-saving in such complex clinical scenarios.
Frontiers in immunology
Source →Necrotizing Fasciitis Caused by ESBL-Producing Raoultella ornithinolytica in an Immunocompromised Patient with VEXAS Syndrome.
Sakamoto-Tokunaga M, et al
Japanese clinicians report the first documented case of necrotizing fasciitis — a severe, rapidly advancing destruction of soft tissue — caused by the environmental bacterium Raoultella ornithinolytica in an 84-year-old male patient being treated for VEXAS syndrome, a recently characterized autoinflammatory disorder linked to poor survival outcomes and heightened susceptibility to infections. The bacterium isolated from the patient produced extended-spectrum beta-lactamase (ESBL), conferring resistance to many common antibiotics, and was initially misidentified as the closely related species R. planticola using standard mass spectrometry; accurate identification required whole-genome sequencing, exposing an important gap in routine clinical diagnostics. Despite the life-threatening nature of the infection, which progressed to septic shock, the patient survived following emergency leg amputation and a course of appropriately targeted antibiotic therapy. This case establishes R. ornithinolytica as a causative agent of necrotizing fasciitis and highlights the extreme vulnerability of immunocompromised patients — particularly those on immunosuppressive regimens for VEXAS syndrome — to rare and drug-resistant bacterial pathogens. Clinicians managing immunocompromised patients should maintain awareness of atypical organisms such as R. ornithinolytica and consider advanced genomic diagnostic tools when conventional identification methods yield uncertain or potentially misleading results.
Acta medica Okayama
Source →Harmonising ctDNA Measurement in Haematological Malignancies: Traceability, Commutability and Reporting.
Shibeeb S
This review addresses a critical challenge in blood cancer diagnostics: the lack of standardization in measuring circulating tumour DNA (ctDNA), a fragment of tumour genetic material shed into the bloodstream that is used to monitor disease and guide treatment decisions. Researchers propose a comprehensive harmonisation framework built on three linked concepts — metrological traceability (connecting reported values to agreed reference standards with defined uncertainty), commutability (ensuring that reference materials used for calibration behave like real patient samples across different laboratory workflows), and fit-for-purpose reference materials that support quality control and clinical cut-off setting. The framework directly tackles confounders unique to blood cancers, most notably clonal haematopoiesis of indeterminate potential (CHIP), a common age-related phenomenon in which non-cancerous blood stem cells carry mutations that can be mistaken for tumour-derived ctDNA signals, potentially leading to false positives. Practical CHIP-aware reporting rules are provided for situations where matched normal cellular DNA is unavailable, along with structured strategies to preserve clinical decision thresholds when laboratories switch platforms or update their bioinformatic pipelines. The clinical importance of this work is substantial: ctDNA is already being used to assess early molecular response in large B-cell lymphoma, detect measurable residual disease in acute myeloid leukaemia, and monitor deep remission in multiple myeloma, and inconsistent measurements across centres risk undermining treatment decisions for thousands of patients. By establishing a coherent harmonisation roadmap, this framework could enable reliable, cross-laboratory ctDNA results that reduce unnecessary bone marrow biopsies and support more consistent, evidence-based patient care.
Diagnostics (Basel, Switzerland)
Source →Capsaicin Receptor TRPV1 Delays Aortic Aging in Atherosclerotic Mice by Inhibiting the ISG15-p53 Pathway.
Zhang D, et al
Researchers investigated whether TRPV1, the capsaicin receptor found in sensory neurons and vascular tissue, plays a protective role against aortic aging in atherosclerosis using mouse models deficient in both the Apoe gene and the TRPV1 gene. The study found that TRPV1 expression is significantly reduced in the aortas of atherosclerotic mice, and that its complete absence accelerates the accumulation of senescent cells in the aortic wall, worsens inflammation through senescence-associated secretory phenotypes, and increases arterial plaque size and instability. Transcriptomic analysis revealed that TRPV1 loss dramatically upregulates ISG15, a ubiquitin-like modifier protein, which in turn activates the tumor suppressor p53 and its downstream effector p21, while blocking phosphorylation of the retinoblastoma protein Rb and thereby locking cells in a senescent state. These findings establish a previously unrecognized TRPV1-ISG15-p53 signaling axis that governs vascular aging and atherosclerosis progression. The results suggest that pharmacological activation of TRPV1 or inhibition of ISG15 could represent novel therapeutic strategies to slow vascular aging and reduce the risk of cardiovascular events in patients with atherosclerosis.
Journal of cellular and molecular medicine
Source →CRTC1::TRIM11 Cutaneous Tumors With Atypia: Melanoma Mimicry, Aggressive Potential, and Methylation Classifier Limitations.
Batson B, et al
Researchers investigated CRTC1::TRIM11 cutaneous tumors, a rare and emerging group of skin cancers driven by activation of the MITF molecular pathway, reporting three new cases that displayed aggressive features including spread to lymph nodes and internal organs at the time of diagnosis. All three tumors exhibited marked cellular abnormalities, an unusual broad sheet-like growth pattern, and an immunostaining profile closely mimicking malignant melanoma, posing significant diagnostic challenges for pathologists. The CRTC1::TRIM11 gene fusion was molecularly confirmed in all cases, while two tumors additionally harbored TERT promoter mutations and one showed chromosomal copy-number changes affecting regions 1q, 8q, 12q, and 14q, alterations that may underlie more aggressive clinical behavior in a subset of patients. A systematic literature review uncovered nine previously published metastatic cases, collectively demonstrating that the extremities are the most common primary tumor site and that metastases most frequently involve regional lymph nodes and the lungs. Importantly, DNA methylation profiling — a classifier increasingly used for soft-tissue tumor diagnosis — incorrectly scored one tumor as clear cell sarcoma rather than identifying it correctly, owing to the absence of a dedicated CRTC1::TRIM11 reference class in current databases. These findings establish molecular fusion detection as the diagnostic gold standard for this tumor type and highlight the need for clinicians to recognize its potential for aggressive behavior alongside the current limitations of methylation-based classification tools.
Genes, chromosomes & cancer
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