Amelanotic Acral Melanoma Associated with KIT Mutation and Vitiligo

ABSTRACT

Amelanotic acral melanoma is rare and difficult to diagnose, both clinically and pathologically. KIT mutations are frequently found in acral melanomas and are considered a risk factor for poor prognosis. The presence of vitiligo in melanoma has been reported, and KIT is thought to be partly responsible for the dysfunction and loss of melanocytes observed in vitiligo. We report a case of amelanotic subungual melanoma with multiple metastases that was associated with KIT mutation and vitiligo. An 85-year-old man presented with a 3-year history of a tender erythematous ulcerated tumor on the left third fingertip and developed hypopigmented patches on the face and trunk. Histopathological examination of the ulcerative tumor showed aggregates of tumor cells that were pleomorphic epithelioid cells. Immunohistochemical staining of the tumor cells was positive for S100, HMB45, and c-Kit. Histopathological findings from the hypopigmented patch on the face were consistent with vitiligo. Mutation analysis showed a KIT mutation in exon 17 (Y823D). The patient had metastasis to the brain, liver, bone, and both lungs. The patient refused chemotherapy, and died 3 months after the first visit.