PMID- 29344493 OWN - NLM STAT- PubMed-not-MEDLINE LR - 20220311 IS - 2296-4681 (Print) IS - 2296-4657 (Electronic) IS - 2296-4657 (Linking) VI - 4 IP - 1 DP - 2017 Dec TI - Comparison of Gene Expression Profiling and Chromosome 3 Analysis by Fluorescent in situ Hybridization and Multiplex Ligation Probe Amplification in Fine-Needle Aspiration Biopsy Specimens of Uveal Melanoma. PG - 16-20 LID - 10.1159/000468941 [doi] AB - PURPOSE: The aim of this paper was to assess the concordance between results of DecisionDx-UM specific gene expression profiling (GEP) and fluorescence in situ hybridization (FISH) for chromosome 3 analysis, and between DecisionDx-UM GEP and multiplex ligation probe amplification (MLPA) in uveal melanoma undergoing intraoperative fine-needle aspiration biopsy (FNAB) for metastatic prognostication during brachytherapy. METHODS: We retrospectively reviewed consecutive patients diagnosed with posterior uveal melanoma who underwent intraoperative FNAB prior to placement of an iodine-125 radioactive plaque between 2012 and 2014. Two cohorts of patients were identified: Cohort 1 - tumors in which both GEP and FISH results were obtained, and Cohort 2 - tumors in which both GEP and MLPA results were obtained. RESULTS: Forty-four patients were identified for Cohort 1. FISH and GEP results were discordant in 7 tumors (15.9%). Forty-three patients were identified for Cohort 2. MLPA and GEP were discordant in 7 tumors (16.3%). CONCLUSIONS: Discordance between GEP and chromosome 3 status by FISH and MLPA occurred in our series at a rate of 15.9 and 16.3%, respectively. Caution must be advised when counseling a patient with a good-prognosis GEP "Class 1" result that the uveal tumor may actually harbor monosomy 3, which is associated with a poor prognosis for metastasis in nearly 20% of the patients. FAU - Klufas, Michael A AU - Klufas MA AD - Department of Ophthalmology at Stein Eye Institute, University of California, Los Angeles, CA, USA. FAU - Richter, Elizabeth AU - Richter E AD - Department of Ophthalmology at Stein Eye Institute, University of California, Los Angeles, CA, USA. FAU - Itty, Sujit AU - Itty S AD - Department of Ophthalmology at Stein Eye Institute, University of California, Los Angeles, CA, USA. FAU - Moreno, Christian AU - Moreno C AD - Department of Ophthalmology at Stein Eye Institute, University of California, Los Angeles, CA, USA. FAU - McCannel, Colin A AU - McCannel CA AD - Department of Ophthalmology at Stein Eye Institute, University of California, Los Angeles, CA, USA. AD - Department of Ophthalmology at Doheny Eye Institute, University of California, Los Angeles, CA, USA. FAU - McCannel, Tara A AU - McCannel TA AD - Department of Ophthalmology at Stein Eye Institute, University of California, Los Angeles, CA, USA. AD - Department of Ophthalmology at Doheny Eye Institute, University of California, Los Angeles, CA, USA. LA - eng PT - Journal Article DEP - 20170614 PL - Switzerland TA - Ocul Oncol Pathol JT - Ocular oncology and pathology JID - 101656139 PMC - PMC5757548 OTO - NOTNLM OT - Choroidal melanoma OT - Fine-needle aspiration biopsy OT - Fluorescent in situ hybridization OT - Gene expression profiling OT - Molecular prognostication OT - Monosomy 3 OT - Multiplex ligation probe amplification OT - Uveal melanoma EDAT- 2018/01/19 06:00 MHDA- 2018/01/19 06:01 PMCR- 2018/12/01 CRDT- 2018/01/19 06:00 PHST- 2016/12/14 00:00 [received] PHST- 2017/03/01 00:00 [revised] PHST- 2018/01/19 06:00 [entrez] PHST- 2018/01/19 06:00 [pubmed] PHST- 2018/01/19 06:01 [medline] PHST- 2018/12/01 00:00 [pmc-release] AID - oop-0004-0016 [pii] AID - 10.1159/000468941 [doi] PST - ppublish SO - Ocul Oncol Pathol. 2017 Dec;4(1):16-20. doi: 10.1159/000468941. Epub 2017 Jun 14.