Uveal Melanoma Prognostic Test

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Test Includes

Copy number testing (using MLPA) on chromosomes 1p, 3, 6, and 8 to detect monosomy, disomy, and trisomy; microsatellite analysis (MSA) on chromosome 3 to detect loss of a chromosome copy and isodisomy; sequencing GNAQ and GNA11 to detect frequently occurring mutations in UM tumor for confirmation of tumor sampling.

Special Instructions

This test is performed at Impact Genetics, Bowmanville, Ontario, Canada. Please direct any questions regarding this test to Impact Genetics at 877-624-9769.

Expected Turnaround Time

35 - 42 days

Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.

Specimen Requirements

Specimen

Whole blood or buccal swab and tumor biopsy (FNAB or other)

Volume

8.5 mL whole blood

Minimum Volume

4 mL whole blood

Container

Yellow-top (ACD) tube or lavender-top (EDTA) tube. Collection kits for buccal swabs and tumors should be ordered directly from Impact Genetics.

Collection

Whole blood samples must be received at Impact Genetics within five days of collection. Do not freeze.

Storage Instructions

Room temperature. Whole blood is stable at room temperature for five days. Buccal swab and tumor in Impact Genetics collection kit is stable for 21 days.

Test Details

Use

Genetic testing of eye tumor tissue to determine whether the original eye tumor has a high risk of metastasis

Limitations

This test was developed, and its performance characteristics determined, by Labcorp. It has not been cleared or approved by the Food and Drug Administration.

Methodology

Multiplex ligation-dependent probe amplification (MLPA); microsatellite analysis; sequencing

References

Damato B, Coupland SE. Translating uveal melanoma cytogenetics into clinical care. Arch Ophthalmol. 2009 Apr;127(4):423-429. 19365018

Damato B, Dopierala JA, Coupland SE. Genotypic profiling of 452 choroidal melanomas with multiplex ligation-dependent probe amplification. Clin Cancer Res. 2010 Dec 15; 16(24):6083-6092. 20975103

Damato B, Eleuteri A, Taktak AF, Coupland SE. Estimating prognosis for survival after treatment of choroidal melanoma. Prog Retin Eye Res. 2011 Sep; 30(5):285-295. 21658465

Eleuteri A, Damato B, Coupland SE, Taktak AF. Enhancing survival prognostication in patients with choroidal melanoma by integrating pathologic, clinical and genetic predictors of metastasis. Int J Biomedical Eng Tech. 2012 Jan 1; 8(1):18-35.

Kivelä T, Harbour JW, Coupland SE, et al. Malignant melanoma of uvea. In: Edge SB, Byrd DR, Compton CC, Fritz AG, Greene FL, Trotti A, eds; American Joint Committee on Cancer. AJCC Cancer Staging Manual. 7th ed. New York, NY: Springer-Verlag; 2010.

Koopmans AE, Vaarwater J, Paridaens D, Naus NC, Kilic E, de Klein A; Rotterdam Ocular Melanoma Study Group. Patient survival in uveal melanoma is not affected by oncogenic mutations in GNAQ and GNA11. Br J Cancer. 2013 Jul 23; 109(2):493-496. 23778528

Prescher G, Bornfeld N, Hirche H, Horsthemke B, Jöckel KH, Becher R. Prognostic implications of monosomy 3 in uveal melanoma. Lancet. 1996 May 4; 347(9010):1222-1225. 8622452

Shields CL, Ganguly A, Materin MA, et al. Chromosome 3 analysis of uveal melanoma using fine-needle aspiration biopsy at the time of plaque radiotherapy in 140 consecutive cases: The Deborah Iverson, MD, Lectureship. Arch Ophthalmol. 2007 Aug; 125(8):1017-1024. 17698747

Thomas S, Pütter C, Weber S, Bornfeld N, Lohmann DR, Zeschnigk M. Prognostic significance of chromosome 3 alterations determined by microsatellite analysis in uveal melanoma: A long-term follow-up study. Br J Cancer. 2012 Mar 13;106(6):1171-1176. 22353812

Tschentscher F, Prescher G, Zeschnigk M, Horsthemke B, Lohmann DR. Identification of chromosome 3, 6, and 8 aberrations in uveal melanoma by microsatellite analysis in comparison to comparative genomic hybridization. Cancer Genet Cytogenet. 2000 Oct 1;122(1):13-17. 11104026

Uveal Melanoma TNM Staging and Survivorship. Available at: http://ocularmelanomaonline.org. Accessed April 11, 2016.

Van Raamsdonk CD, Griewank KG, Crosby MB, et al. Mutations in GNA11 in uveal melanoma. N Engl J Med. 2010 Dec 2; 363(23):2191-2199. 21083380

Werdich XQ, Jakobiec FA, Singh AD, Kim IK. A review of advanced genetic testing for clinical prognostication in uveal melanoma. Semin Ophthalmol. 2013 Sep-Nov; 28(5-6):361-371. 24010756

LOINC® Map

Order Code	Order Code Name	Order Loinc	Result Code	Result Code Name	UofM	Result LOINC
480344	Uveal Melanoma Rates		233907	Routing		41103-3

Reflex Table for Routing
	Order Code	Order Name	Result Code	Result Name	UofM	Result LOINC
Reflex 1	480628	Copy # Chr 1p, 3, 6, 8	480628	Copy # Chr 1p, 3, 6, 8		N/A

Reflex Table for Routing
	Order Code	Order Name	Result Code	Result Name	UofM	Result LOINC
Reflex 1	480425	Microsatellite Chr 3	480425	Microsatellite Chr 3		N/A

Reflex Table for Routing
	Order Code	Order Name	Result Code	Result Name	UofM	Result LOINC
Reflex 1	480577	Reflex - sequencing of GNA11	480577	Reflex - sequencing of GNA11		N/A

Reflex Table for Routing
	Order Code	Order Name	Result Code	Result Name	UofM	Result LOINC
Reflex 1	480575	Reflex - sequencing GNAQ	480575	Reflex - sequencing GNAQ		N/A

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