Latest Research
All publications from the Cancer3.AI database, newest first.
Ocular Melanoma: A Comprehensive Review with a Focus on Molecular Biology.
Iavarone L, et al
Researchers have published a comprehensive review examining the molecular biology of ocular melanoma, a rare but serious cancer affecting the eye, with a focus on its two main subtypes: uveal melanoma (arising from the eye's inner pigmented layer) and conjunctival melanoma (affecting the eye's surface). The review highlights that uveal melanoma is driven by mutations in specific genes—GNAQ, GNA11, BAP1, SF3B1, and EIF1AX—that differ markedly from those seen in skin melanoma, and these mutations serve as important indicators of patient prognosis. In contrast, conjunctival and eyelid melanoma shares more genetic similarities with cutaneous melanoma, including mutations in BRAF, NRAS, NF1, and the TERT promoter, which opens the door to therapies already used in skin cancer treatment. Despite advances in understanding the molecular underpinnings of these tumors, metastatic ocular melanoma—particularly the uveal subtype—remains associated with very poor survival outcomes and limited treatment options. This review underscores the urgent need for continued molecular research to develop targeted therapies tailored to the unique biology of ocular melanoma and ultimately improve patient outcomes.
International journal of molecular sciences
Source →Mutational Spectrum and Clinical Outcomes of Myelodysplastic/Myeloproliferative Neoplasms: A Single-Institution Study in Korea with Emphasis on U2AF1.
Park M, et al
Researchers from Korea conducted the first single-institution study examining the genetic mutation profiles and clinical outcomes of 53 patients diagnosed with myelodysplastic/myeloproliferative neoplasms (MDS/MPN), a rare group of blood cancers that share features of two distinct disease types. The most commonly mutated gene across all MDS/MPN subtypes was ASXL1 (found in 52.8% of patients), followed by TET2 (39.6%) and U2AF1 (18.9%), with U2AF1 mutations appearing especially often in the myelodysplastic form of chronic myelomonocytic leukemia and the not-otherwise-specified subtype. Notably, mutations in ASXL1 and TET2 in chronic myelomonocytic leukemia patients showed a trend toward better survival, while U2AF1 mutations were linked to significantly worse prognosis, suggesting U2AF1 may serve as an important adverse prognostic marker. Transfusion dependency was also confirmed as a strong predictor of poor outcomes, with affected patients facing nearly eight times the risk of death compared to those not requiring transfusions. These findings deepen the molecular understanding of MDS/MPN in Korean patients and highlight U2AF1 mutation testing as a potentially valuable tool for risk stratification and clinical decision-making in this challenging disease group.
Journal of clinical medicine
Source →Incidence of Primary Acquired Melanosis Within Pterygium Specimens: A 13-Year Retrospective Study in a Canadian Tertiary Center.
Gaffar J, et al
Researchers at a Montreal tertiary care center conducted a 13-year retrospective study examining whether primary acquired melanosis (PAM), a potentially serious pigmented eye condition, can go undetected within pterygium tissue removed during routine surgery. Among 1,277 pterygium specimens submitted for pathological analysis between 2010 and 2023, the vast majority were confirmed as benign pterygia, but 40 cases (3.2%) revealed unexpected findings, including two cases of PAM. One of these PAM cases carried cellular atypia, a feature that significantly increases the risk of progression to conjunctival melanoma if left untreated. The overall incidence of PAM within presumed benign pterygium specimens was very low, underscoring its rarity, but the discovery of even one atypical case highlights a critical clinical concern. The authors conclude that routine pathological examination of all excised pterygium tissue is essential, regardless of whether the surgeon suspects any malignant or premalignant condition, because missing PAM with atypia can have serious consequences for the patient's long-term eye health.
Cornea
Source →Optimization of a mobile imaging system to aid in evaluating patients with oral lesions in a dental care setting.
Mitbander R, et al
Oral cancer is frequently diagnosed at a late stage despite the oral cavity being readily accessible for clinical examination, underscoring the urgent need for tools that support early detection in non-specialist settings. Researchers developed and evaluated the mobile Detection of Oral Cancer (mDOC) system, a smartphone-based device that captures both white light and autofluorescence images of oral tissue, testing it in a community dental clinic with 50 patients across 252 anatomic sites. A multi-input deep learning algorithm was trained using a rehearsal method that incorporated both previously collected and newly acquired imaging data, with expert specialist referral decisions serving as the ground truth. On the test set, the algorithm achieved an AUC-ROC of 0.778, a sensitivity of 60%, and a specificity of 88%, indicating a reasonable ability to identify lesions warranting specialist review while limiting unnecessary referrals. These findings suggest that an AI-assisted mobile imaging system could meaningfully support general dentists in triaging patients with suspicious oral mucosal lesions at the community level, potentially enabling earlier intervention and improved patient outcomes.
Biophotonics discovery
Source →Clinical Utility of Amino Acid PET-MRI in Children with CNS Neoplasms: A Territory-Wide Study from Hong Kong.
Lu ER, et al
A territory-wide study from Hong Kong investigated the clinical value of combining amino acid tracer positron emission tomography with magnetic resonance imaging (PET-MRI) in 37 children diagnosed with or suspected of having central nervous system (CNS) tumors, conducting 63 scans between 2022 and 2025. Researchers measured how avidly tumors absorbed a radioactive amino acid tracer and found that high-grade, more aggressive tumors showed significantly higher uptake values compared to low-grade or non-cancerous lesions, with clear statistical thresholds identified to help distinguish between them. The imaging technique was used for initial diagnosis, monitoring treatment response, and detecting residual or relapsed disease, and crucially altered clinical management decisions in 65% of patients. These findings demonstrate that amino acid PET-MRI outperforms standard MRI alone in pediatric CNS tumors, providing doctors with more precise information to guide diagnosis and treatment. The study supports broader adoption of this combined imaging approach in children with brain and spinal cord tumors, a population where accurate, non-invasive assessment is especially important.
Cancers
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