Track: Case Reports

Topic: Melanocytic Neoplasms

Abstract:

Invasive acral melanoma is a neoplastic proliferation of malignant melanocytes arising in the acral skin. We herein describe a case of acral melanoma demonstrating both RAF1 and TERT amplification. RAF1 is a member of the Raf family of serine/threonine protein kinases that promote cell proliferation. Telomerase reverse transcriptase (TERT) is a subunit of the telomerase enzyme that plays a major role in the maintenance of telomere length via reverse transcriptase activity. We present a case of a 70-year-old female with a pigmented lesion on her left plantar heel for 6 months. Physical examination revealed a 4 x 2 cm variegated colored cutaneous lesion with a dark macular center. Microscopic examination revealed an atypical lentiginous proliferation of melanocytes with invasion into the dermis. The composite uptake pattern of immunohistochemical stains including MART-1, HMB45, PRAME, Sox10, p16 and PRAME supported the diagnosis of invasive melanoma. Additionally, molecular analysis by next-generation sequencing showed high level amplifications of RAF1 and TERT. RAF1 targeted therapy in melanoma includes selumetinib, cobimetinib, trametinib, atezolizumab, and regorafenib. TERT gene amplification is associated with poor outcome in acral lentiginous melanoma. To our knowledge this is the first case reported of an invasive acral melanoma with both RAF1 and TERT amplification. We share this case to raise awareness that these combined amplifications can significantly affect therapy and prognosis.

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Andre Kajdacsy-Balla, Medical Doctor, Doctor of Philosophy