Sufficiency of FNAB aspirates of posterior uveal melanoma for cytologic versus GEP classification in 159 patients, and relative prognostic significance of these classifications
SF3B1 mutations are associated with alternative splicing in uveal melanoma
Our data show that despite its dismal prognosis, uveal melanoma is a relatively simple genetic disease characterized by recurrent chromosomal losses and gains and a low mutational burden. We show that SF3B1 is recurrently mutated in uveal melanoma, and the mutations are associated with aberrant alternative splicing.
Publication: Cancer Discovery
Exome sequencing identifies recurrent somatic mutations in EIF1AX and SF3B1 in uveal melanoma with disomy 3
Gene expression profiles and chromosome 3 copy number divide uveal melanomas into two distinct classes correlating with prognosis. Using exome sequencing, we identified recurrent somatic mutations in EIF1AX and SF3B1, specifically occurring in uveal melanomas with disomy 3, which rarely metastasize.
Publication: Nature Genetics
The DecisionDx-UM gene expression profile test provides risk stratification and individualized patient care in uveal melanoma
Uveal melanoma (UM) is the most common primary cancer of the eye and has a strong propensity for metastasis. Although there have been many recent improvements in the diagnosis and treatment of UM, and only 2-4% of patients present with detectable metastasis, up to half of patients are at risk for dying of metastatic disease.
Publication: PLOS Currents
Recurrent mutations at codon 625 of the splicing factor SF3B1 in uveal melanoma
AAD/ACMS/ASDSA/ASMS 2012 appropriate use criteria for MOHS micrographic surgery: A report of the American Academy of Dermatology, American College of MOHS Surgery, American Society for Dermatologic Surgery Association, and the American Society for MOHS Surgery
The appropriate use criteria process synthesizes evidence-based medicine, clinical practice experience, and expert judgment. The American Academy of Dermatology in collaboration with the American College of Mohs Surgery, the American Society for Dermatologic Surgery Association, and the American Society for Mohs Surgery has developed appropriate use criteria for 270 scenarios for which Mohs micrographic surgery (MMS) is frequently considered based on tumor and patient characteristics.
Publication: J Am Acad Dermatol
Collaborative ocular oncology group report no. 1: prospective validation of a multi-gene prognostic assay in uveal melanoma
Uveal melanoma prognostication: from lesion size and cell type to molecular class
Uveal melanoma: molecular pattern, clinical features, and radiation response
Germline BAP1 inactivation is preferentially associated with metastatic ocular melanoma and cutaneous-ocular melanoma families
BAP1 has been shown to be a target of both somatic alteration in high-risk ocular melanomas (OM) and germline inactivation in a few individuals from cancer-prone families. These findings suggest that constitutional BAP1 changes may predispose individuals to metastatic OM and that familial permeation of deleterious alleles could delineate a new cancer syndrome.
Publication: PLoS ONE