MITF (Melanocyte Inducing Transcription Factor)

C. tangutica extract promotes melanogenesis via PKA/CREB activation and uniquely exhibits immunomodulatory activity in a vitiligo model. This study provides the first mechanistic evidence for the dual-targeting potential of C. tangutica, as a natural candidate for vitiligo therapy. Our findings highlight a novel phytotherapeutic strategy pigmentary disorders.

In addition to detailing specific features of our case, we also discuss those differences that may help distinguish ACTG1::MITF fusions from other clear cell tumors. Considering the significant differences in clinical outcomes between these distinct classes of clear cell tumors, accurate distinction can significantly affect management options.

Next-generation sequencing-based molecular profiling had clinical utility in two-thirds of patients, and the greatest benefit was within the broad category of ccRCN. Our results suggest that GPNMB expression was helpful in separating ELOC-RCCfms from M/TSC-RCCfms. Other benefits of NGS include subtyping high-grade RCC/RCC type not otherwise specified and identification of rare phenotypes.

A principal function of these transcription factors concerns cytoplasmic organellar biogenesis: TFEB is the master regulator of lysosome biogenesis while MITF controls the biogenesis of lysosome-related organelles known as melanosomes which are responsible for melanin pigment production. Here we review the role of MITF/TFE pathway activation in a variety of benign and malignant tumors, with an emphasis on the diverse oncogenic mechanisms that activate this pathway and the resulting altered cell biology that contributes to the distinctive histomorphologic features.

This article summarizes the clinical, histologic, immunophenotypic, and molecular features of these cutaneous tumors and compares them to other diagnoses in the histologic differential. The available outcome and treatment data are summarized.

We further show that MITF, MYC, and GNAQ/GNA11 form coupled regulatory feedback loops in the melanocyte lineage, and MITF deletion in UVM creates acute dependency on MYC-mediated rescue via chr8q amplification, often as a consequence of isochromosome formation. The discovered feedback loops predict both overall and relapse-free patient survival within the most aggressive UVM subtype, explain sensitivity to therapeutic gene perturbations, and inform effective combinatorial therapies.

P2, N=40, Withdrawn, Sydney Local Health District | Not yet recruiting --> Withdrawn

Nevertheless, the case underscores the importance of comprehensive germline testing and highlights potential, yet underexplored, genetic interactions that may influence ovarian cancer risk. To our knowledge, this represents the first reported case of HGSOC in a patient harboring both variants, offering a hypothesis‑generating observation for future investigation.

Collectively, these laboratory findings suggest that DHC exhibits broad preclinical bioactivity through combined biostimulatory, antioxidant, anti-inflammatory, and pigmentation-modulating effects. Further mechanistic and clinical studies are required to determine its translational relevance.