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CCND1 amplification, (11q13)

CCND1 gene encodes the protein CD1 (Cyclin D1), wich is deregulated in cancer, together with other D-type cyclins. CCND1 is considered a phenotype and disease progression marker. CCND1 amplification is a frequent event in some types of malignant melanomas and its pattern of altered expression can influence metastatic progression and survival, associated with a more aggressive phenotype, in addition to its location. This assay detects the number of copies of CCND1 (11q13) using fluorescence in situ hybridization (FISH) in FFPE samples in melanoma. Copy number changes are frequent in melanoma, being indicated as an aid for the diagnosis of melanoma in skin biopsy samples.

To differentiate nevi from melanoma, a panel of 3 probes targeting RREB1 (6p), MYB (6q23) and CCND1 (11q13) genes has been developed. Melanoma is considered if complies with any of the following criteria:

  1. more than 55% of cells with more copies of RREB1 (6p25) than of Cep6 (6p25>Cep6)
  2. more than 29% ofcells with more than 2 RREB1 (6p25) signals
  3. more than 40% of cells with fewer copies of MYB (6q23) than of Cep6 (6q23<Cep6)
  4. more than 38% of cells with more than 2 copies of CCND1 (11q13)

References:

  • Vízkeleti L, et al. (2012) Tumour Biol. 2012 Dec; 33(6):2189-99.
  • de Klein A, et al. (2012) Expert Rev Mol Diagn. 12(7):683-5.
  • Musgrove EA, et al. (2011) Nat Rev Cancer. 2011 Jul 7;11(8):558-72.
  • Song J, et al. (2011) Adv Anat Pathol. 18(3):229-34.
  • Gerami P, Zembowicz A. (2011) Arch Pathol Lab Med. 135(7):830-7.

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