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Uveal melanoma is a malignant neoplasm derived from melanocytes of the uveal tract of the eye. Per OMIM and Orphanet, it is the most common primary intraocular tumor in the United States and Western Europe, with prevalence in the uncommon range (approximately 1 to 9 per 100,000 individuals). The condition is less prevalent in populations of African and Asian descent. Recognized subtypes include choroidal melanoma, iris melanoma, posterior uveal melanoma, and several cell-type variants including epithelioid, mixed cell, spindle cell (types A and B), intermediate, and necrotic forms.
Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 6:00 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
The packet does not identify specific disease-causing genes; the known_genes field is empty. An autosomal dominant inheritance pattern is listed in the packet; however, no supporting gene is documented, limiting characterization of any hereditary contribution. The OMIM entry (155720) is the primary sourcing reference for the genetic dimension.
Per the OMIM and Orphanet-sourced definition, diagnostic procedures include ophthalmoscopic examination, fluorescein angiography, and ultrasound. Cell type classification distinguishes epithelioid, intermediate, mixed cell, and spindle cell types (spindle type further subclassified as A and B). Additional diagnostic criteria are not detailed in this packet.
Two FDA-approved therapies are identified in the packet's approved_treatments field: melphalan hydrochloride (HEPZATO KIT), approved by FDA/CDER in August 2023; and tebentafusp (KIMMTRAK), approved by FDA/CDER in January 2022; both with active market status. The disease definition also references surgical excision, iridocyclectomy, tumor resection, radiotherapy, and photocoagulation as described treatment modalities.
82 trials found
A dedicated natural history or prognosis field is not present in this packet. Uveal melanoma is the most common primary intraocular tumor in Western populations per the disease definition. Prognosis information beyond this context is not certified in this packet.
Active clinical research is reflected in the packet's trial records. Among listed studies: NCT07804186 (Phase 3) evaluates adjuvant darovasertib and crizotinib for primary non-metastatic uveal melanoma, sponsored by IDEAYA Biosciences; NCT07057596 (Phase 2) studies neoadjuvant tebentafusp in metastatic uveal melanoma; NCT06070012 (Phase 2) examines tebentafusp in HLA-A*0201-positive previously untreated metastatic disease. Additional trials are registered on ClinicalTrials.gov.
AI-curated news mentioning uveal melanoma
Updated Aug 19, 2026
Moderna's stock surged nearly 100% as their mRNA cancer vaccine, developed in partnership with Merck, demonstrated a significant delay in melanoma recurrence in a Phase 3 trial. The companies plan to submit the data to the FDA for potential approval.
A recent study published in PubMed highlights the prevalence of the MBD4 gene as a predisposing factor for uveal melanoma. This research contributes to the understanding of genetic risk factors associated with this rare eye cancer.
Researchers have developed a novel cyclic peptide radiotracer for FGFR1-targeted PET imaging in uveal melanoma. This advancement could enhance diagnostic capabilities for this rare form of eye cancer.
Recent updates on uveal melanoma treatment highlight advancements in targeted therapies and immunotherapy approaches. These developments aim to improve patient outcomes and address the unique challenges posed by this rare cancer.