Melanoma

It is estimated that Melanoma will account for approximately 4.5% of all new cancer cases and 1.7% of all cancer deaths in the U.S. in 2016.1 The most common method of Melanoma diagnosis is histological examination. However this method is characterized by poor accuracy. In a study where 11 expert pathologists reviewed 37 ‘classic’ melanocytic lesions there was total agreement in only 30% of cases.2 A commercial kit for the classification of malignant melanoma is an improvement, but is still characterized by relatively low diagnostic accuracy in morphologically ambiguous melanocytic neoplasms.3,4 More recent studies have identified additional cytogenetic markers that increase the sensitivity and specificity of the assay.4

 

FISH Assays:

RREB1 (6p25): Amplifications of RREB1 are associated with aggressive subtypes of typical Melanoma and Spitzoid Melanoma.4 Part of the original FISH panel.3

CCND1 (11q13): Amplifications of CCND1 are associated with aggressive subtypes of typical Melanoma and Spitzoid Melanoma.4 Part of the original FISH panel.3

P16 (9p21): 9p21 deletions are observed in approximately 40% of familial melanoma cases. The detection of 9p21 deletions can aid in the detection of familial melanoma and is indicative of an aggressive subtype of Spitzoid melanoma.4 This is an addition to the original FISH panel.3

MYC (8q24): Detection of MYC amplifications can aid in reinforcing a Melanoma diagnosis and is indicative of an aggressive subtype.4 This is an addition to the original FISH panel.3

MYB (6q23): The identification of MYB amplifications is a part of the original FISH panel for the diagnosis of melanoma.3 More recent studies did not see a significant association of MYB amplifications in typical Melanoma, but did see a slight increase risk factor in Spitzoid Melanoma.4

Order FISH Probes

References

  1. National Cancer Institute, Surveillance, Epidemiology, and End Results (SEER) Program, 2016.
  2. Ackerman AB. Discordance among expert pathologists in diagnosis of melanocytic neoplasms. Hum Pathol. 1996 Nov;27(11):1115-6. PubMed PMID: 8912817.
  3. Gaiser T, Kutzner H, Palmedo G, Siegelin MD, Wiesner T, Bruckner T, Hartschuh W, Enk AH, Becker MR. Classifying ambiguous melanocytic lesions with FISH and correlation with clinical long-term follow up. Mod Pathol. 2010 Mar;23(3):413-9. doi: 10.1038/modpathol.2009.177. Epub 2010 Jan 15. PubMed PMID: 20081813.
  4. Ferrara G, De Vanna AC. Fluorescence In Situ Hybridization for Melanoma Diagnosis: A Review and a Reappraisal. Am J Dermatopathol. 2016 Apr;38(4):253-69. doi: 10.1097/DAD.0000000000000380. PubMed PMID: 26999337.