Eye Cancer

P2, N=7, Active, not recruiting, H. Lee Moffitt Cancer Center and Research Institute | Trial primary completion date: Jan 2027 --> Dec 2025

The patient was treated on a non-protocol treatment plan with five cycles of vincristine, carboplatin, etoposide, cyclophosphamide, and weekly intraventricular topotecan via Ommaya reservoir, followed by autologous stem cell rescue. Optical genome mapping (OGM) showed that the proximal breakpoint of the balanced inversion at 13q14.2 was within intron 17 of RB1, while the distal breakpoint at 13q31.3 did not interrupt any known genes of clinical significance. We review the various molecular techniques that aided in diagnosis of this patient and provide a summary of similar RB1-disrupting structural variants reported in the literature.

Furthermore, Metap1D knockdown reduced the expression of myogenic markers, including myogenin and myosin heavy chain, and was associated with impaired myogenic differentiation, accompanied by the formation of multinucleated myotubes with abnormal spherical morphology. These findings suggest that mitochondria-localized Metap1D is involved in the regulation of mitochondrial content and activity and is associated with the control of C2C12 myoblast proliferation and myogenic differentiation.

More importantly, RB1 functional status may also modulate sensitivity to additional therapeutic modalities, highlighting its broader relevance to the evolving SCLC treatment landscape. Integrating molecularly informed strategies accounting for RB1 proficiency and its transcriptional landscape will be pivotal to overcoming the long-standing therapeutic impasse in SCLC, offering a roadmap for the development of effective, precision-guided therapies.

In conclusion, LPRB shows a 50-64% penetrance rate, more likely to be paternally inherited, have unilateral presentation, and associated with hypomorphic RB1 PSVs in the terminal pRB regions. These findings support retitling 'low penetrance RB' to 'medium penetrance RB'.

P1, N=16, Active, not recruiting, Modulation Therapeutics, Inc. | Recruiting --> Active, not recruiting | Trial primary completion date: Mar 2026 --> Mar 2027

Genetic or pharmacological targeting of S100A6-FGFR3 signaling effectively suppressed BAP1-deficient UM metastasis in preclinical models, highlighting the therapeutic potential of targeting this signaling pathway. Overall, our findings establish S100A6 as a critical mediator of hepatic metastasis in BAP1-deficient UM through FGFR3-dependent tumor microenvironment activation, revealing its therapeutic potential.

Perioperative chronic stress exacerbates cognitive dysfunction after 6-h long-term isoflurane anesthesia. The activity of RbAp48/HDAC2-induced histone deacetylation modification plays a critical role in these negative effects on cognition.

Inhibiting miR-100-5p and FOXP3 down-regulates miR-100-5p expression, while increased CTDSPL expression contributed to reduced cell proliferation and promoted cell apoptosis in LoVoOXR CRC cells. miR-100-5p plays an oncogenic role in inducing chemoresistance through modulation of the CTDSPL/retinoblastoma protein (pRB)/E2F transcription factor 1 (E2F1) axis in CRC cells.

The patient responded well to prednisone and rituximab. IgG4-related disease may present with atypical posterior uveitis findings and mimic intraocular lymphoma. This entity should be considered in the differential diagnosis of posterior uveitis masquerade syndromes.

P1, N=75, Recruiting, M.D. Anderson Cancer Center | Active, not recruiting --> Recruiting | Trial completion date: Dec 2025 --> Jun 2027 | Trial primary completion date: Dec 2025 --> Jun 2027

P1, N=17, Completed, H. Lee Moffitt Cancer Center and Research Institute | Active, not recruiting --> Completed