Melanoma Panel

Test Information

€ RREB1: The protein encoded by RREB1 binds specific sequences, RAS-response elements (RRE), and regulates expression of RRE containing genes. RREB1 can both up- and down-regulate target gene expression. This gene is found on the short arm of chromosome 6, in a region commonly amplified in multiple cancers, including melanoma. 6p amplification is the most common chromosomal abnormality seen in melanoma. Furthermore, amplification has been associated with lower survival compared to those without 6p amplification (Cancer Biomarkers (2016) 16(4): 575-597). € MYB: MYB is a proto-oncogene that transcriptionally regulates gene expression. This protein plays an essential role in hematopoiesis through control of proliferation and differentiation of hematopoietic progenitor cells. € c-MYC: This transcriptional regulator is able to bind DNA in both specific and non-specific manners to modulate transcription of genes associated with cell cycle progression, apoptosis, and cellular transformation. Amplification of c-MYC is a known occurrence in metastatic melanoma (Journal of Molecular Medicine (2017) 95(1): 53-67). € CDKN2A: CDKN2A has multiple transcripts that result in distinct proteins after translation. One product leads to inhibition of CDK4 while another is known to sequester and inhibit MDM2 activity. Together, CDKN2A isoforms regulate G1 cell cycle control. This gene is mutated or deleted in multiple cancers, including melanoma. Germline mutations are reported in 20-40% familial melanoma cases while these mutations are reported in 0.2-2% of sporadic melanomas. Co-occurrence of NRAS or BRAF mutations are estimated at 16% and 37%, respectively (Journal of American Academy of Dermatology (2015) 72(3): 496-507). Furthermore, homo- or heterozygous loss of CDKN2A has been reported in 56% of primary invasive melanomas. Current research is focused on determine the efficacy of CDK4 inhibition for treating melanomas with CDKN2A aberrations (Pigment Cell and Melanoma (2014) 27(4): 590-600). € CCND1: CCND1 encodes cyclin D1, a regulator of CDK4/CDK6. CCND1 complexes with CDK4 to phosphorylate and inhibit RB1 family members to regulate G1/S cell cycle transition. A recent study reported loss of CCND1 occurred at a frequency of 38.7% in melanoma (Clinical Cancer Research (2016) 22(2): 374-382).

Turnaround Time

10 days

CPT Code(s)

81406

Cost

$1,000.00

Disorders

Clinical Information

Skin cancer is the most common type of cancer in the US and melanoma is the most deadly form of skin cancer. Melanoma is a malignant tumor of melanocytes. This disease is the fifth most common cancer in men and the seventh in women with an estimated 76,380 new cases and 10,130 deaths in 2016 in the U.S. (ACS 2016). Treatment of melanoma is based on a combination of surgery, traditional cytotoxic chemotherapy, targeted therapies, and immune-based therapies. Despite poor prognosis of patients with stage IV disease, treatment advances have been made in recent years, particularly related to drivers of tumorigenesis such as the commonly reported BRAF V600E mutation. (https://www.melanoma.org/sites/default/files/2016MelanomaFactSheet.pdf)

Indications

Gene sequencing and targeted mutation testing and copy number analysis can serve as a useful diagnostic and potentially prognostic tool for the analysis of affected tissues or tumors. The detection of copy number variants or specific gene mutations may enhance treatment decisions.

Specimen Requirements

Analysis can be performed on fresh or frozen tissue samples as well as formalin-fixed, paraffin-embedded tissue samples.

Transport Instructions

The specimen should be kept at the appropriate temperature and delivered via overnight shipping.

Have Questions Need Support?

Call our laboratory at 1-800-473-9411 or contact one of our Laboratory Genetic Counselors for assistance.
Robin Fletcher, MS, CGC
Kellie Walden, MS, CGC

Oncology Testing, Panel
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