Interpreting Discordant Monosomy 3 FISH and Chromosomal Microarray Analysis Results in Uveal Melanoma

Uveal melanoma is the most common primary ocular tumor in adults and causes morbidity through lymphovascular metastasis. The presence of monosomy 3 in uveal melanomas is one of the most important prognostic indicators for metastasis. Two major molecular pathology testing modalities used to assess mo...

Full description

Saved in:
Bibliographic Details
Published in:Diagnostics (Basel) 2023-03, Vol.13 (5), p.946
Main Authors: Long, Christopher P, Coley, Nicholas, Thorson, John, Lin, Jonathan H
Format: Article
Language:English
Subjects:
Analysis
Biopsy
Chromosomes
Conflicts of interest
Development and progression
Diagnosis
DNA microarrays
FISH
Fluorescence in situ hybridization
Health Insurance Portability & Accountability Act 1996-US
Interesting Images
Laboratories
Melanoma
Metastasis
microarray
Monosomy
monosomy 3
Morphology
Ophthalmology
Optic nerve
Prognosis
Review boards
uveal melanoma
Citations: Items that this one cites
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Uveal melanoma is the most common primary ocular tumor in adults and causes morbidity through lymphovascular metastasis. The presence of monosomy 3 in uveal melanomas is one of the most important prognostic indicators for metastasis. Two major molecular pathology testing modalities used to assess monosomy 3 are fluorescence in situ hybridization (FISH) and chromosomal microarray analysis (CMA). Here, we report two cases of discordant monosomy 3 test results in uveal melanoma enucleation specimens, performed using these molecular pathology tests. The first case is of uveal melanoma from a 51-year-old male that showed no evidence of monosomy 3 when assessed by CMA, but where it was subsequently detected by FISH. The second case is of uveal melanoma from a 49-year-old male that showed monosomy 3 at the limit of detection when assessed by CMA, but where it was not detected by subsequent FISH analysis. These two cases underscore the potential benefits of each testing modality for monosomy 3. Mainly, while CMA may be more sensitive to low levels of monosomy 3, FISH may be best method for small tumors with high levels of adjacent normal ocular tissue. Our cases suggest that both testing methods should be pursued for uveal melanoma, with a single positive result for either test interpreted as indicating the presence of monosomy 3.
ISSN:2075-4418
2075-4418
DOI:10.3390/diagnostics13050946