Instrument Gauge and Type in Uveal Melanoma Fine Needle Biopsy: Implications for Diagnostic Yield and Molecular Prognostication

4 Jan 2021

Lindsay K. Klofas,Carley M. Bogan,Alice C. Coogan,Stephen J. Schultenover,Vivian L. Weiss,Anthony B. Daniels

Journal : AJO

Ref : Fine-needle aspiration biopsy Ocular Oncology Uveal Melanoma

Quality of life considerations in uveal melanoma patients: a systematic review

30 Oct 2020

Sonia Anchouche,Jiaru Liu,Fatma Zaguia,Georges Nassrallah,Jean Deschênes

Journal : CJO

Ref : Ocular Oncolgy Uveal Melanoma

Effects of plaque brachytherapy and proton beam radiotherapy on prognostic testing: a comparison of uveal melanoma genotyped by microsatellite analysis

1 Oct 2020

Sophie Thornton, Sarah E Coupland, Heinrich Heimann, Rumana Hussain, Carl Groenewald, Andrzej Kacperek, Bertil Damato, Azzam Taktak, Antonio Eleuteri, Helen Kalirai

Journal : BJO

Ref : Ocular Oncology Plaque brachytherapy Proton beam therapy Uveal Melanoma

Hepatic Ultrasonography Compared With Computed Tomography and Magnetic Resonance Imaging at Diagnosis of Metastatic Uveal Melanoma

6 Aug 2020

Elina S. Rantala, Erno Peltola, Hanne Helminen, Micaela Hernberg, Tero T. Kivelä

Journal : AJO

Ref : Liver metastases Ocular Oncology Uveal Melanoma

Quality of Life Concerns in Patients with Uveal Melanoma after Initial Diagnosis

26 May 2020

Barker C.A. · Kozlova A. · Shoushtari A.N. · Hay J.L. · Francis J.H. · Abramson D.H.

Journal : Ocular Immunology & Inflam

Ref : Ocular Oncology Uveal Melanoma

Symptomatic Liver Metastasis Prompting Diagnosis of Uveal Melanoma

26 May 2020

Awh C.C. · Wilson M.W.

Journal : Ocular Oncology & Pathology

Ref : Liver metastases Ocular Oncology Uveal Melanoma

Practice Patterns for the Treatment of Uveal Melanoma with Iodine-125 Plaque Brachytherapy: Ocular Oncology Study Consortium Report 5

15 May 2020

Binder C. · Mruthyunjaya P. · Schefler A.C. · Seider M.I. · Crilly R. · Hung A. · Meltsner S. · Mowery Y. · Kirsch D.G. · Teh B.S. · Jennelle R.L.S. · Studenski M.T. · Liu W. · Lee C. · Hayman J.A. · Kastner B. · Hadsell M. · Skalet A.H. · Ocular Oncology Study Consortium

Journal : Ocular Oncology & Pathology

Ref : COMS trial Ocular Oncology Plaque brachytherapy Uveal Melanoma

Whole Exome Sequencing Identifies Candidate Genes Associated with Hereditary Predisposition to Uveal Melanoma

11 May 2020

Mohamed H. Abdel-Rahman, Klarke M. Sample, Robert Pilarski, Tomas Walsh, Timothy Grosel, Daniel Kinnamon, Getachew Boru, James B. Massengill, Lynn Schoenfield, Ben Kelly, David Gordon, Peter Johansson, Meghan J. DeBenedictis, Arun Singh, Silvia Casadei, Frederick H. Davidorf, Peter White, Andrew W. Stacey, James Scarth, Ellie Fewings, Marc Tischkowitz, Mary-Claire King, Nicholas K. Hayward, Colleen M. Cebulla

Purpose

To identify susceptibility genes associated with hereditary predisposition to uveal melanoma (UM) in patients with no detectable germline BAP1 alterations.

Design

Retrospective case series from academic referral centers.

Participants

Cohort of 154 UM patients with high risk of hereditary cancer defined as patients with 1 or more of the following: (1) familial UM, (2) young age (<35 years) at diagnosis, (3) personal history of other primary cancers, and (4) family history of 2 or more primary cancers with no detectable mutation or deletion in BAP1 gene.

Methods

Whole exome sequencing, a cancer gene panel, or both were carried out. Probands included 27 patients with familial UM, 1 patient with bilateral UM, 1 patient with congenital UM, and 125 UM patients with strong personal or family histories, or both, of cancer. Functional validation of variants was carried out by immunohistochemistry, reverse-transcriptase polymerase chain reaction, and genotyping.

Main Outcome Measures

Clinical characterization of UM patients with germline alterations in known cancer genes.

Results

We identified actionable pathogenic variants in 8 known hereditary cancer predisposition genes (PALB2, MLH1, MSH6, CHEK2, SMARCE1, ATM, BRCA1, and CTNNA1) in 9 patients, including 3 of 27 patients (11%) with familial UM and 6 of 127 patients (4.7%) with a high risk for cancer. Two patients showed pathogenic variants in CHEK2 and PALB2, whereas variants in the other genes each occurred in 1 patient. Biallelic inactivation of PALB2 and MLH1 was observed in tumors from the respective patients. The frequencies of pathogenic variants in PALB2, MLH1, and SMARCE1 in UM patients were significantly higher than the observed frequencies in noncancer controls (PALB2: P = 0.02; odds ratio, 8.9; 95% confidence interval, 1.5–30.6; MLH1: P = 0.04; odds ratio, 25.4; 95% confidence interval, 1.2–143; SMARCE1: P = 0.001; odds ratio, 2047; 95% confidence interval, 52–4.5e15, respectively).

Conclusions

The study provided moderate evidence of gene and disease association of germline mutations in PALB2 and MLH1 with hereditary predisposition to UM. It also identified several other candidate susceptibility genes. The results suggest locus heterogeneity in predisposition to UM. Genetic testing for hereditary predisposition to cancer is warranted in UM patients with strong personal or family history of cancers, or both.

https://www.aaojournal.org/article/S0161-6420(19)32274-2/fulltext

Journal : Ophthalmology

Ref : Genetics Ocular Oncology Uveal Melanoma

Nomogram for visual acuity outcome after iodine-125 plaque radiotherapy and prophylactic intravitreal bevacizumab for uveal melanoma in 1131 patients

3 May 2020

Lauren A Dalvin, Qiang Zhang, Rose A Hamershock, Michael Chang, Michael D Yu, Arman Mashayekhi, Carol L Shields

Journal : BJO

Ref : Bevacizumab Ocular Oncolgy Plaque brachytherapy Uveal Melanoma

Accuracy of The Cancer Genome Atlas Classification vs American Joint Committee on Cancer Classification for Prediction of Metastasis in Patients With Uveal Melanoma

7 Mar 2020

Mehdi Mazloumi, MD, MPH; Pornpattana Vichitvejpaisal, MD; Lauren A. Dalvin, MD; et al.

Importance The Cancer Genome Atlas (TCGA) classification is a newly emerging method for prediction of uveal melanoma (UM)–related metastasis and death. Limited information is available regarding the accuracy of the TCGA classification for prediction of metastasis in patients with UM.

Objective To investigate the accuracy of the TCGA classification for predicting UM-related metastasis compared with the American Joint Committee on Cancer (AJCC) classification.

Design, Setting, and Participants In this retrospective cohort study, patients with UM treated with plaque radiotherapy at a tertiary referral center from October 1, 2008, to December 31, 2018, were evaluated. All patients with tumors classified according to the American Joint Committee on Cancer Staging Manual, 8th Edition, and who completed pretreatment fine-needle aspiration biopsy sampling for genetic analysis of chromosomes 3 and 8 for TCGA classification were included. Tumors were classified into 4 categories, 17 subcategories, and 4 stages using AJCC classification and further grouped into 4 classes using TCGA classification.

Main Outcomes and Measures Value of TCGA classification vs AJCC classification for predicting UM-related metastasis.

Results Of 642 included patients, 331 (51.6%) were women, and the mean (SD) age was 58.0 (13.8) years. There were 642 tumors from 642 patients classified according to both AJCC and TCGA classifications. The mean (range) follow-up time for the entire cohort was 43.7 (1.4-159.2) months. At 5 years, TCGA classification showed higher value for prediction of metastasis (4 TCGA classes: Wald statistic, 94.8; hazard ratio [HR], 2.8; 95% CI, 2.3-3.5; P < .001; 4 AJCC categories: Wald statistic, 67.5; HR, 2.6; 95% CI, 2.1-3.2; P < .001; 17 AJCC subcategories: Wald statistic, 74.3; HR, 1.3; 95% CI, 1.2-1.3; P < .001; 4 AJCC stages: Wald statistic, 67.0; HR, not applicable; P < .001). After entering TCGA and AJCC classifications into a multivariate model, TCGA classification still showed higher value for prediction of metastasis (TCGA classification: Wald statistic, 61.5; HR, 2.4; 95% CI, 1.9-2.9; P < .001; AJCC classification: Wald statistic, 35.5; HR, 1.9; 95% CI, 1.5-2.4; P < .001).

Conclusions and Relevance These results suggest that TCGA classification provides accuracy that is superior to AJCC categories, subcategories, and stages for predicting metastasis from UM. When genetic testing is available, TCGA classification can provide a more accurate way to identify patients at high risk of metastasis who might benefit from adjuvant therapy.

https://jamanetwork.com/journals/jamaophthalmology/article-abstract/2758934

Journal : JAMA Ophthal

Ref : Ocular Oncology Uveal Melanoma

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