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Comparison Of Germline Versus Somatic Bap1 Mutations For Risk Of Metastasis In Uveal Melanoma., K. G. Ewens, E. Lalonde, J. Richards-Yutz, C. L. Shields, A. Ganguly

Wills Eye Hospital Papers

BACKGROUND: Germline mutations in BAP1 have been associated with BAP1-Tumor Predisposition Syndrome (BAP1-TPDS), a predisposition to multiple tumors within a family that includes uveal melanoma (UM), cutaneous melanoma, malignant mesothelioma and renal cell carcinoma. Alternatively, somatic mutations in BAP1 in UM have been associated with high risk for metastasis. In this study, we compare the risk of metastasis in UM that carry germline versus somatic BAP1 mutations and mutation-negative tumors.

METHODS: DNA extracted from 142 UM and matched blood samples was sequenced using Sanger or next generation sequencing to identify BAP1 gene mutations.

RESULTS: Eleven of 142 UM (8%) carried …

Ipilimumab Activity In Advanced Uveal Melanoma: A Pooled Analysis, Muhammad A. Khattak, Elin Gray

Research outputs 2014 to 2021

Background

Uveal Melanoma is a rare tumour that displays different clinical behavior and molecular features compared with cutaneous melanoma. It is generally resistant to systemic therapy and there is no current standard effective therapy to treat patients with advanced disease.

Patients and methods

We searched Medline, PubMed, EMBASE and major oncology conference abstracts from the past 5 years to identify relevant studies evaluating ipilimumab monotherapy in uveal melanoma. Data were extracted on ipilimumab dose, sample size, Objective Response Rate (ORR), Progression Free Survival (PFS), median Overall Survival (mOS), Disease Control Rate (DCR), 1 year Overall Survival (1yrOS) and 2 year …

Clinical Application Of Circulating Tumor Cells And Circulating Tumor Dna In Uveal Melanoma, Aaron Beasley, Timothy Isaacs, Muhammad K. Khattak, James B. Freeman, Richard Allcock, Fred K. Chen, Michelle R. Pereira, Kyle Yau, Jaqueline Bentel, Tersia Vermeulen, Leslie Calapre, Michael Millward, Melanie R. Ziman, Elin S. Gray

Research outputs 2014 to 2021

Purpose To evaluate the feasibility of using circulating tumor cells (CTCs) and circulating tumor DNA (ctDNA) for the management of uveal melanoma (UM).

Patients and Methods Low-coverage whole-genome sequencing was used to determine somatic chromosomal copy number alterations (SCNAs) in primary UM tumors, ctDNA, and whole-genome amplified CTCs. CTCs were immunocaptured using an antimelanoma-associated chondroitin sulfate antibody conjugated to magnetic beads and immunostained for melanoma antigen recognised by T cells 1 (MART1)/glycoprotein 100 (gp100)/S100 calcium-binding protein β (S100β). ctDNA was quantified using droplet digital polymerase chain reaction assay for mutations in the GNAQ, GNA11, PLCβ4, and CYSLTR2 …