Test Catalog

Test ID: UMM3F    
Uveal Melanoma, Chromosome 3 Monosomy, FISH, Tissue

Useful For Suggests clinical disorders or settings where the test may be helpful

As an aid to prognosis in patients with uveal melanoma when used in conjunction with an anatomic pathology consultation

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

This test does not include a pathology consult. If a pathology consultation is requested, PATHC / Pathology Consultation should be ordered and the appropriate FISH test will be ordered and performed at an additional charge.


This test includes a charge for application of the first probe set (2 FISH probes) and professional interpretation of results.


Additional charges will be incurred for all reflex probes performed. Analysis charges will be incurred based on the number of cells analyzed per probe set. If no cells are available for analysis, no analysis charges will be incurred.

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

Uveal melanoma is the most common type of primary intraocular malignancy in adults, with an annual incidence of 6 per million. These melanomas arise within pigmented cells of the uveal tract of the eye, which consists of the choroid, ciliary body, and iris. Overall, mortality rates in patients with uveal melanoma are quite high (approximately 50%) and are due to metastatic disease. Identifying patients likely to develop metastasis is critical for establishing patient prognosis. Previous studies have demonstrated that monosomy 3 is highly correlated with the development of metastatic disease in patients with uveal melanoma.

Reference Values Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.

An interpretive report will be provided.

Interpretation Provides information to assist in interpretation of the test results

A neoplastic clone is detected when the percent of cells with an abnormality exceeds the normal reference range for chromosome 3 probe set. A positive result is consistent with monosomy 3 and a higher risk for metastatic disease in uveal melanoma patients. A negative result suggests that aneuploidy of chromosome 3 is not present.

Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

This test is not approved by the U.S. Food and Drug Administration and it is best used as an adjunct to existing clinical and pathologic information.


Fixatives other than formalin (eg, Prefer, Bouin) may not be successful for FISH assays, however nonformalin-fixed samples will not be rejected. 


Paraffin-embedded tissues that have been decalcified are generally unsuccessful for FISH analysis. The pathologist reviewing the hematoxylin and eosin-stained slide may find it necessary to cancel testing.

Supportive Data

FISH analysis was performed on 37 formalin-fixed, paraffin-embedded tissue samples, including 17 uveal melanomas and 20 noncancerous eye tissues (removed due to trauma or chronic eye disorders). The normal controls were used to generate a normal cutoff for this assay. Eleven of 17 (65%) uveal melanoma specimens demonstrated monosomy 3 in 29.5% to 80.5% of the nuclei (with a mean value of 63%). The remaining 6 specimens were considered normal.

Clinical Reference Recommendations for in-depth reading of a clinical nature

1. Tschentscher F, Prescher G, Horsman DE, et al: Partial deletions of the long and short arm of chromosome 3 point to two tumor suppressor genes in uveal melanoma. Cancer Res 2001 Apr 15;61(8):3439-3442

2. Prescher G, Bornfeld N, Hirche H, et al: Prognostic implications of monosomy 3 in uveal melanoma. Lancet 1996 May 4;349(9010):1222-1225

3. Cross NA, Ganesh A, Parpia M, et al: Multiple locations onchromosome 3 are the targets of specific deletions in uveal melanoma. Eye 2006 Apr;20(4):476-481

4. Parrella P, Fazio VM, Gallo AP, et al: Fine mapping of chromosome 3 in uveal melanoma: identification of a minimal region of deletion on chromosomal arm 3p25.1-p25.2. Cancer Res 2003 Dec 1;63(23):8507-8510

5. Onken MD, Worley LA, Person E, et al: Loss of heterozygosity of chromosome 3 detected with single nucleotide polymorphisms is superior to monosomy 3 for predicting metastasis in uveal melanoma. Clin Cancer Res 2007 May 15;13(10):2923-2927