Medical Specialties Commons^™

Intrinsic Disorder In Prame And Its Role In Uveal Melanoma, Michael Antonietti, David J. Taylor Gonzalez, Mak Djulbegovic, Guy W. Dayhoff, Vladimir N. Uversky, Carol L. Shields, Carol L. Karp

Wills Eye Hospital Papers

Introduction

The PReferentially expressed Antigen in MElanoma (PRAME) protein has been shown to be an independent biomarker for increased risk of metastasis in Class 1 uveal melanomas (UM). Intrinsically disordered proteins and regions of proteins (IDPs/IDPRs) are proteins that do not have a well-defined three-dimensional structure and have been linked to neoplastic development. Our study aimed to evaluate the presence of intrinsic disorder in PRAME and the role these structureless regions have in PRAME( +) Class 1 UM.

Methods

A bioinformatics study to characterize PRAME’s propensity for the intrinsic disorder. We first used the AlphaFold tool to qualitatively assess the …

Intratumoral Bacteria In Uveal Melanoma: A Case Report, Katherine Vega Escobar, Paola Ordonez Armijos, Tatyana Milman, Carol L. Shields, Ralph C. Eagle Jr.

Wills Eye Hospital Papers

Purpose Intratumoral bacteria and their potential application to cancer immunotherapy have been a topic of interest in recent studies. To our knowledge, bacteria in uveal melanoma have not been previously reported.

Observations We describe a patient with a large choroidal melanoma, measuring 18 × 16 mm in basal dimension and 15 mm in ultrasonographic thickness, managed by plaque brachytherapy. At the time of plaque removal, a prophylactic scleral patch graft was placed to protect from anticipated scleral necrosis. Progressive ocular ischemia led to a blind and painful eye. The enucleated eye demonstrated an extensively necrotic and heavily pigmented mushroom-shaped regressed …

Cyberknife Robotic-Assisted Stereotactic Radiosurgery For Advanced Stages Of Ciliochoroidal Uveal Melanoma. Preliminary Results In Mexico, Gustavo Ortiz-Morales, Irving Dominguez-Varela, Daniela E. Gomez-Elizondo, Erik Perez-Ramos, Sara González-Godínez, Dione Aguilar Y Méndez, Christian Estrada-Hernández, Ramiro Corral, Octavio Zamorano-Gómez, Carol L. Shields, Lauren A. Dalvin, Efren Gonzalez-Monroy, David Ancona-Lezama

Wills Eye Hospital Papers

Objective: The objective of this study was to report the early results of CyberKnife^® (CK^®) stereotactic radiosurgery in advanced stages of ciliochoroidal (CBCh) melanoma in Mexican patients.

Methods: A retrospective review of charts was performed to analyze the outcomes of patients who underwent CK^® (Accuray Inc, Sunnyvale, CA, United States).

Results: Four patients with CBCh melanoma were treated under this protocol. The mean age was 53.2 ± 5.3 years (range, 47-60). Median of follow-up was 9.5 ± 3.1 months (range, 5-12). Mean tumor diameter was 13.49 mm, mean thickness, 11.74 mm, and mean gross tumor volume …

Prognostication Of Uveal Melanoma Is Simple And Highly Predictive Using The Cancer Genome Atlas (Tcga) Classification: A Review., Carol L. Shields, Lauren A. Dalvin, Pornpattana Vichitvejpaisal, Mehdi Mazloumi, Arupa Ganguly, Jerry A. Shields

Wills Eye Hospital Papers

Purpose: The cancer genome atlas (TCGA) is a comprehensive project supported by the National Cancer Institute (NCI) in the United States to explore molecular alterations in cancer, including uveal melanoma (UM). This led to TCGA classification for UM. In this report, we review the American Joint Committee on Cancer (AJCC) classification and TCGA classification for UM from the NCI's Center for Cancer Genomics (NCI CCG) (based on enucleation specimens [n = 80 eyes]) and from Wills Eye Hospital (WEH) (based on fine needle aspiration biopsy [FNAB] specimens [n = 658 eyes]). We then compare accuracy and predictability of AJCC versus …

Changes In Ultraviolet Radiation Exposure To The Ocular Region: A Population-Based Study., Ezekiel Weis, Sebastian Q. Vrouwe, David B. Lebaron, Matthew B. Parliament, Jerry A Shields, Carol L. Shields

Wills Eye Hospital Papers

In contrast to the well-established association between ultraviolet radiation (UVR) exposure and skin cancers, the relationship between UVR and uveal malignant melanoma (UM) remains controversial. To address this controversy, we evaluated the incidence rates of cutaneous malignancies in the eyelids as a proxy for UVR exposure in the ocular region using a population-based cancer registry. Overall, 74,053 cases of eyelid basal cell carcinoma (BCC) and 7890 cases of melanoma over a 26-year period (1982–2007) were analyzed. The incidence of eyelid basal cell carcinoma and uveal melanoma remained stable, whereas other cutaneous areas demonstrated an increase in the rates. A comparability …

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 …