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Leah K. Vaccarella, Mohamed H. Abdel-Rahman, Frederick H. Davidorf, Colleen M. Cebulla; Molecular Genetic Testing in Uveal Melanoma: An Examination of the Practice Patterns of North American Ocular Oncologists. Invest. Ophthalmol. Vis. Sci. 2011;52(14):1439.
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© ARVO (1962-2015); The Authors (2016-present)
To evaluate practice patterns of North American ocular oncologists regarding use of molecular genetic testing in the management of uveal melanoma (UM).
An internet-based survey program was used to develop a short survey regarding the use of molecular genetic testing and fine needle aspiration biopsy in the management of UM. The survey was emailed to ocular oncologists in North America who participated in the Collaborative Ocular Melanoma Study, the Wills Ocular Tumor Symposium, or were members of the Eye Cancer Network.
Twenty-five/63 (40%) ocular oncologists completed the survey and 72% reported obtaining molecular genetic testing at least once. Of those obtaining testing, 43.8% performed molecular genetic testing on >75%, 43.8% on 25-50%, and 12.5% on <10% of their patients. Most specimens were collected with fine needle aspiration biopsy at the time of brachytherapy insertion or from fresh enucleation specimens. The biopsy techniques used included trans-scleral with partial thickness flap (62.5%), trans-scleral without partial thickness flap (25%), trans-vitreal with infusion cannula and vitrectomy port (31.3%), and vitreous cutter to take specimen (12.5%). The majority created a conjunctival peritomy (12/14, 85.7%) and a scleral flap for trans-scleral biopsies (10/14, 71.4%). The majority of ocular oncologists reported obtaining cytology on a separate biopsy sample from the one used for molecular testing. The most common test performed was RNA-based gene expression, followed by chromosomal analysis by fluorescence in situ hybridization or loss of heterozygosity by single nucleotide polymorphisms. For those specialists who did not obtain molecular testing, the major reason cited was the lack of effective therapy for metastatic UM. For those who did obtain testing, the major reasons cited were patients want to know their risk category and to better screen high risk patients.
Molecular genetic testing and tumor fine needle aspiration biopsy are currently being used by many ocular oncologists in North America in the management of UM. However, variations exist regarding patient selection, biopsy procedure and type of molecular genetic testing utilized.
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