Latest Research
All publications from the Cancer3.AI database, newest first.
Dual presentation of metastatic gestational trophoblastic neoplasia in mother and infant: an infrequent diagnostic challenge.
Senthilmurugan S, et al
Researchers from BMJ Case Reports describe an extraordinarily rare and diagnostically challenging situation in which gestational trophoblastic neoplasia (GTN), a cancer arising from placental tissue, was identified simultaneously in both a mother and her infant. The infant presented with vomiting, lethargy, and an enlarged liver; imaging revealed large liver tumors with central necrosis and multiple lung nodules, and the child died before a definitive diagnosis could be made, which was later confirmed by post-mortem biopsy. Shortly after the infant's death, the mother developed neurological symptoms, and imaging alongside elevated beta-hCG hormone levels confirmed metastatic choriocarcinoma, a highly aggressive form of GTN. This case underscores how GTN can be transmitted from mother to child during pregnancy, and how its presentation in infants can be atypical and rapidly fatal if not recognized promptly. The authors stress that clinicians should consider GTN when infants present with unexplained liver and lung lesions, particularly in the context of a recent maternal pregnancy, and that early beta-hCG testing may be life-saving. Timely diagnosis is critical because GTN is one of the few cancers that responds very well to chemotherapy, making early detection potentially curative for the mother.
BMJ case reports
Source →Targeted next-generation sequencing-based sequencing of cell-free DNA in cerebrospinal fluid uncovers cancer-specific mutations in patients with brain cancer using a widely available panel.
Köpp A, et al
Researchers investigated whether targeted next-generation sequencing (NGS) of cell-free DNA (cfDNA) extracted from cerebrospinal fluid (CSF) could help diagnose brain tumors in patients for whom surgical biopsy is difficult or too risky. The study enrolled 29 patients with suspected or confirmed central nervous system tumors or leptomeningeal metastasis, collecting both CSF and blood samples for cfDNA analysis using a commercially available gene panel. Sequencing was successful in 55% of CSF samples and 100% of blood samples, with CSF consistently yielding more tumor-specific mutations than blood, particularly in patients whose tumors were larger and located closer to the CSF space. Critically, in two cases where surgery was deemed too dangerous due to tumor location, CSF sequencing alone enabled diagnosis — identifying one primary CNS lymphoma and one H3 K27M diffuse midline glioma. These findings demonstrate that liquid biopsy of CSF using widely available NGS panels can serve as a clinically practical, minimally invasive complement to surgical biopsy for brain tumor diagnosis. This approach holds significant promise for patients with inoperable or surgically high-risk brain lesions who currently lack reliable non-invasive diagnostic options.
Neuro-oncology advances
Source →Integrating molecular profiling into glioma diagnosis: implications of the WHO-CNS5-2021 classification of adult-type diffuse gliomas in Colombian patients.
Echeverría O, et al
Researchers in Colombia conducted a molecular characterization of brain tumors known as gliomas in 22 patients, applying the updated 2021 World Health Organization (WHO) CNS5 classification system that emphasizes genetic and molecular markers alongside traditional tissue-based diagnosis. Using techniques such as Sanger sequencing, MLPA, and methylation-specific MLPA, the team analyzed key molecular biomarkers including IDH1, IDH2, TERT, and EGFR mutations, 1p/19q co-deletion, and MGMT promoter methylation status. The study revealed a 23% discordance rate between the original histopathological diagnoses and the molecularly revised diagnoses, with several tumors initially classified as glioblastomas being reclassified as astrocytomas after molecular analysis. The researchers also identified rare non-canonical mutations, such as IDH1 p.R132S, which carry distinct prognostic implications for patients. These findings underscore the critical importance of integrating molecular profiling into routine glioma diagnosis in Colombia and similar lower-resource settings, where such reclassifications can directly alter treatment decisions and patient outcomes. The authors call for larger studies combining molecular data with clinical outcomes to better understand glioma epidemiology and therapeutic responses in Latin American populations.
Frontiers in neurology
Source →Time-dependent diffusion-weighted imaging assessment of tumor grading and isocitrate dehydrogenase genotypes in adult-type diffuse gliomas.
Kamimura K, et al
Researchers investigated whether time-dependent diffusion-weighted MRI, which measures how water molecules move through tissue at different time intervals, could improve the classification of brain tumors called adult-type diffuse gliomas in 102 patients. The study compared conventional apparent diffusion coefficient (ADC) maps with newer parameters derived from two diffusion times, including the relative ADC change (rcADC), to distinguish low-grade from high-grade gliomas and to identify a mutation in the isocitrate dehydrogenase (IDH) gene that has important prognostic significance. The mean rcADC achieved an impressive area under the ROC curve of 0.925 for separating high-grade from low-grade gliomas, significantly outperforming conventional ADC measurements, and also showed the strongest correlation with the Ki-67 labeling index, a marker of how rapidly tumor cells are dividing. Additionally, the 95th percentile of rcADC was identified as an independent predictor of IDH-wildtype gliomas, which carry a worse prognosis than IDH-mutant tumors. These findings suggest that time-dependent diffusion MRI parameters, particularly rcADC, could offer clinicians a non-invasive tool to more accurately grade gliomas and predict their genetic profile, potentially guiding treatment decisions without relying solely on surgical biopsy results.
Japanese journal of radiology
Source →Angiomyxolipoma of the hard palate: a rare case report.
Chekaraou SM, et al
Researchers from Africa report an exceptionally rare case of angiomyxolipoma arising on the hard palate of a 55-year-old woman, adding to the very limited global literature on this unusual benign tumor of the oral cavity. Angiomyxolipoma, also known as vascular myxolipoma, is a subtype of lipoma distinguished by a unique combination of mature fat tissue, a loose myxoid matrix, and a prominent network of blood vessels. The patient presented with a swelling on the roof of her mouth and underwent successful surgical removal; histopathological analysis confirmed the diagnosis, and the patient remained free of complications or recurrence after one year of follow-up. This case is clinically significant because angiomyxolipoma can closely resemble more dangerous tumors, including myxoid liposarcoma, a malignant cancer, making accurate diagnosis essential to avoid unnecessary aggressive treatment. Clinicians encountering unusual soft-tissue swellings in the oral cavity should be aware of this entity, as correct identification relies on thorough microscopic examination. Raising awareness of such rare presentations helps ensure that patients receive appropriate, targeted care rather than overtreatment.
The Pan African medical journal
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