Retinoblastoma

Therefore, developing a more detailed perspective on the RB tumor DNA damage repair pathways is the focus of this review. Crystallizing the available information, we also propose the use of a few DDR inhibitors of the identified deregulated genes in retinoblastoma that are currently in clinical trials for other cancer types, as adjunct therapy to increase chemosensitivity of RB tumors and reduce chemotherapy-induced toxicity for better treatment outcomes.

Ribociclib (Ribo) and Abemaciclib (Abe) are new-generation CDK inhibitors approved for use in breast cancer treatment. Some molecular mechanisms were elucidated by revealing the synergistic effect of FA combined with Ribo and/or Abe in both HR positive and HR negative breast cancer and its possible toxicity or protection on normal breast cells. The present findings suggest that FA is a viable candidate for adjuvant or neoadjuvant treatment in combination with Ribo and/or Abe, as an alternative to Letrozole or Fulvestrant, which have been associated with significant adverse effects in clinical settings.

Endocytic/signaling proteins exhibit distinct, subtype-linked expression in ocular tumors. Integration with public datasets highlights CAV1 and GIPC1 as adverse survival correlates in UM and positions LRP2/CUBN/DAB2IP dysregulation as features of ocular tumor biology, nominating candidate biomarkers and mechanistic targets.

This report highlights a rare, malignant craniofacial PEComa with extensive invasion into the orbit and skull base, expanding the known clinical and molecular spectrum of these tumors.

P=N/A, N=240, Enrolling by invitation, Amsterdam University Medical Center | N=660 --> 240 | Trial primary completion date: Mar 2028 --> Oct 2026

MCM6 acts as a critical regulator of retinoblastoma growth and modulates response to melphalan. Targeting MCM6 may offer a therapeutic approach to improve outcomes of chemotherapy in retinoblastoma.

Luciferase assays confirm that miR-106b-5p directly binds the 3'UTR of RBL2 and western blotting demonstrates the presence of RBL2 downregulation. Animal studies further validate the tumour-promoting role of miR-106b-5p via RBL2 suppression, which suggests its therapeutic potential.

High-risk HPV was detected in 11 (26.1%) cases and 13 (22.8%) controls (P = 0.69). The similar frequency of high-risk HPV in both groups does not support maternal HPV infection as an etiological factor for non-familial retinoblastoma.

Germline changes associated with malignancies were examined using next-generation sequencing (NGS). There were no germline alterations discovered, suggesting no predisposition to develop cancer. Three pathogenic/likely pathogenic heterozygous variants were found in the patient by carrier screening. Absence of germline RB1 mutations or other hereditary cancer syndromes implicates treatment-related factors (chemotherapy/radiotherapy) as the primary driver of sequential malignancies. Nonhereditary retinoblastoma (RB) survivors have a lower risk of secondary malignancies (SMNs) compared to their hereditary counterparts. Chemotherapy, especially alkylating agents, increases the risk of secondary acute myelogenous leukemia (AML) and other leukemias and lymphomas due to its mutagenic effects and genetic factors. Although RB survivors rarely develop secondary cancers, the limited patient numbers and short follow-up periods may influence SPC risk assessments. Continuous monitoring and personalized follow-up care are crucial for managing long-term risks in these survivors. This research emphasizes the essential importance of ongoing monitoring and follow-up for survivors of retinoblastoma (RB) to identify and address secondary malignancies (SMNs), improve the management of long-term complications, and enhance both life expectancy and quality of life.

The highest percentage of variants in RB corresponded to nonsense substitutions and indels, mainly affecting the Pocket domain, which is the major functional site for the pRb regulatory process. These results indicate the predominance of the most pathogenic variants related to the bilateral presentation of retinoblastoma.

We believe that palbociclib not only stops the cell cycle and induces apoptosis in breast cancer cells, but also activates the immune response via TLRs.

These data were supported by a significant reduction in proliferation and a decrease in Ki-67 expression. Our 3D models closely resemble retinoblastoma tumor tissue and can serve as a platform to assess innovative drugs or implement the promising results on the use of MDM2 inhibitors for retinoblastoma treatment.