What is the role of chromosomal abnormalities in Merkel cell carcinoma (MCC)?

Updated: Jan 18, 2019
  • Author: Arjun S Joshi, MD; Chief Editor: Arlen D Meyers, MD, MBA  more...
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MCC has a notable genetic component. Myriad chromosomal abnormalities have been reported with MCC. The most common abnormality is deletion of the short arm of chromosome 1 (1p36). This deletion is also found in neuroblastoma and melanoma, a finding that provides further evidence of a link between MCC and neural crest tissue. Trisomy 1, trisomy 6, trisomy 18, and the deletion of chromosome 7 have also been reported. Loss of heterozygosity has been observed in chromosome 3 (3p21, which is also seen in small cell cancer of the lung), as well as in chromosomal arm 10q and chromosome 13. The relevance of these chromosomal changes and their effect on cancer development remains unclear.

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