Latest Research
All publications from the Cancer3.AI database, newest first.
Sibling Osteosarcoma Without Retinoblastoma Associated With a Low Penetrance RB1 Variant: Whole Genome Findings From a Single Family.
Zhao W, et al
Researchers from the Shanghai General Hospital investigated a rare family case in which two siblings both developed osteosarcoma, the most common malignant bone tumor in children and adolescents, without any prior diagnosis of retinoblastoma. Using whole-genome sequencing of tumor and normal DNA from both affected siblings, their parents, and an unaffected sister, the team identified a paternally inherited mutation in the RB1 gene (a splice-donor variant) as the shared genetic cause. Both tumors showed complete loss of the RB1 gene region on chromosome 13, confirming the classic two-hit mechanism of tumor suppressor inactivation, alongside additional acquired mutations that likely cooperated in driving cancer development. Notably, the father who carried the same RB1 variant and an older sister remained cancer-free, demonstrating that this particular variant has low penetrance — meaning not all carriers develop disease. These findings broaden the known spectrum of RB1-related cancer risk, showing that low-penetrance RB1 variants can predispose individuals to osteosarcoma even in the absence of retinoblastoma. Clinicians should consider RB1 germline testing in families with multiple cases of osteosarcoma, as identifying such variants has important implications for genetic counseling and cancer surveillance.
Genes, chromosomes & cancer
Source →Vorinostat Inhibition of FOXM1 Oncogenic Signaling Is Associated With the Downregulation of MYCN Transcription in Metastatic Retinoblastoma.
Onwumere O, et al
Researchers investigated how vorinostat (SAHA), an approved histone deacetylase inhibitor, exerts its anti-cancer effects in retinoblastoma, a rare eye cancer primarily affecting young children. The study focused on aggressive, metastatic forms of retinoblastoma driven by the MYCN oncogene in cells lacking functional RB1 tumor suppressor protein. Scientists found that SAHA suppresses tumor cell growth and triggers cell death by downregulating the FOXM1 oncogene, which in turn reduces the activity of genes controlling cell division and metastasis, including the matrix metalloproteinase MMP2. Crucially, the team demonstrated that MYCN and FOXM1 form a regulatory axis, whereby knocking down MYCN reduces FOXM1 expression, and FOXM1 inhibition also suppresses the inflammatory NF-κB pathway. These findings provide a preclinical rationale for considering SAHA, alone or in combination with other therapies, specifically for patients with metastatic retinoblastoma carrying MYCN amplification and RB1 loss, a high-risk molecular subtype with limited treatment options.
Journal of biochemical and molecular toxicology
Source →Evaluation of Orbital Tumors in a Tertiary Eye Care Hospital of Bangladesh.
Mahtab P, et al
A cross-sectional descriptive study conducted at the Ispahani Islamia Eye Institute and Hospital in Bangladesh examined the prevalence, demographic patterns, and clinical characteristics of orbital tumors over a one-year period from August 2019 to July 2020. Thirty patients of all ages and both sexes presenting with primary orbital tumors were enrolled, with diagnoses confirmed through clinical, radiological, and histopathological evaluation. The study found a bimodal age distribution, with the highest number of cases in children aged 0 to 10 years, where dermoid cysts were most prevalent, and a second peak in patients over 50 years, where non-Hodgkin lymphoma (NHL) was the dominant malignancy. Overall, 21 of 30 cases were benign and 9 were malignant, with proptosis, palpable mass, and restricted eye movement being the most common presenting signs. These findings highlight that while orbital tumors are rare, their presentation varies significantly by age group, and early clinical recognition supported by imaging and biopsy is essential for timely and appropriate management in resource-limited settings.
Mymensingh medical journal : MMJ
Source →A 64-Year-Old Man Presenting With Diplopia and Right Orbital Swelling Due to Mucosa-Associated Lymphoid Tissue Lymphoma.
Altamimi LM, et al
Researchers report the case of a 64-year-old man who developed gradually worsening double vision and swelling of the right orbit over several years, ultimately diagnosed with mucosa-associated lymphoid tissue (MALT) lymphoma, a rare but treatable form of non-Hodgkin lymphoma affecting the eye socket. MALT lymphoma is the most common primary orbital cancer in adults and typically grows slowly, often mimicking benign conditions and causing diagnostic delays. Imaging with CT scanning revealed a soft-tissue mass involving one of the eye muscles, and a biopsy confirmed the low-grade B-cell lymphoma diagnosis with no spread to other parts of the body. The patient was treated with surgical removal of the tumor followed by radiotherapy, achieving a significant reduction in the orbital mass and nearly complete resolution of double vision within three months, with no major complications. This case underscores the importance of thorough imaging and tissue analysis in patients with unexplained orbital swelling, and demonstrates that localized orbital MALT lymphoma carries an excellent prognosis when identified and treated promptly.
The American journal of case reports
Source →Hypoxia-Induced Ferroptosis Resistance Drives Orbital Fibrosis in Thyroid Eye Disease.
Gong C, et al
Researchers investigated whether low-oxygen (hypoxic) conditions in the eye socket promote resistance to a form of programmed cell death called ferroptosis in fibroblasts taken from patients with thyroid eye disease (TED), a condition that can cause painful disfigurement and vision loss due to excessive tissue scarring. The study found that TED fibroblasts already showed heightened ferroptosis resistance compared to healthy controls, characterized by elevated levels of protective proteins GPX4 and SLC7A11, and that hypoxia further amplified this resistance while simultaneously driving fibrotic (scarring) activity. A key metabolic finding was that hypoxia caused lactate to accumulate inside cells, and lactate alone was sufficient to boost GPX4 levels and promote fibrotic behavior, while blocking lactate production with 2-deoxy-D-glucose restored the cells' sensitivity to ferroptosis and reduced fibrotic markers. Critically, carefully dosed induction of ferroptosis using the compound RSL3 reduced profibrotic signaling in TED fibroblasts without killing the cells, and this effect was reversible with a ferroptosis inhibitor, confirming the on-target mechanism. These findings suggest that the hypoxic, lactate-rich microenvironment of the TED orbit hijacks cellular metabolism to shield fibroblasts from death and drive scarring, and that combining metabolic inhibition with calibrated ferroptosis induction may represent a promising new therapeutic strategy for patients with this debilitating disease.
Investigative ophthalmology & visual science
Source →