Abstract

Melanoma is a rare but deadly form of skin cancer, accounting for 4% of skin cancer cases but 75% of skin cancer deaths worldwide. The incidence and mortality of melanoma are expected to grow for at least the next 10 to 20 years. CCND1 gain is a common oncogenic aberration in melanoma, particularly acral melanoma. Gain of CCND1 has been associated with ulceration, angiogenesis, poor prognosis, and resistance to chemotherapy. Though the commonly acknowledged role of CCND1 gain in oncogenesis is promotion of proliferation by evading G1-S checkpoints, CCND1 has many other oncogenic functions including suppression of mitochondrial metabolism, inhibition of DNA repair, and activation of the MAPK, PI3K, Wnt, and NF-kB oncogenic pathways. Indeed, the contributions of CCND1 gain to melanomagenesis are complex. In melanoma, gain of CCND1 has been reported in approximately one-third to one-half of cases. The frequency of gain does differ depending on anatomic site and subtype; frequencies vary from 15.79% (for superficial spreading melanomas) to 25.06% (for acral melanomas). We present a cohort of 82 melanoma cases in which only 7.32% had evidence of CCND1 gain, as assessed by chromosomal microarray (CMA). This frequency falls well below those typically reported in the literature. We also compare the data with other modalities such as fluorescence in situ hybridization (FISH). We briefly discuss the role of CCND1 gain in melanoma, and conjecture some possible reasons as to the discrepancy between our CMA cohort and previously published data. The frequency of CCND1 gain in melanoma may differ from those previously published. If verified, there may be implications for gene panels used as ancillary tests in the diagnosis of melanoma.

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