Amelanotic Acral Melanoma Associated with KIT Mutation and Vitiligo
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초록
Amelanotic acral melanoma is rare and difficult to diagnose,both clinically and pathologically. KIT mutations are frequentlyfound in acral melanomas and are considered a riskfactor for poor prognosis. The presence of vitiligo in melanomahas been reported, and KIT is thought to be partly responsiblefor the dysfunction and loss of melanocytes observed invitiligo. We report a case of amelanotic subungual melanomawith multiple metastases that was associated with KITmutation and vitiligo. An 85-year-old man presented with a3-year history of a tender erythematous ulcerated tumor onthe left third fingertip and developed hypopigmented patcheson the face and trunk. Histopathological examination ofthe ulcerative tumor showed aggregates of tumor cells thatwere pleomorphic epithelioid cells. Immunohistochemicalstaining of the tumor cells was positive for S100, HMB45,and c-Kit. Histopathological findings from the hypopigmentedpatch 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 died3 months after the first visit.
Abstract
Amelanotic acral melanoma is rare and difficult to diagnose,both clinically and pathologically. KIT mutations are frequentlyfound in acral melanomas and are considered a riskfactor for poor prognosis. The presence of vitiligo in melanomahas been reported, and KIT is thought to be partly responsiblefor the dysfunction and loss of melanocytes observed invitiligo. We report a case of amelanotic subungual melanomawith multiple metastases that was associated with KITmutation and vitiligo. An 85-year-old man presented with a3-year history of a tender erythematous ulcerated tumor onthe left third fingertip and developed hypopigmented patcheson the face and trunk. Histopathological examination ofthe ulcerative tumor showed aggregates of tumor cells thatwere pleomorphic epithelioid cells. Immunohistochemicalstaining of the tumor cells was positive for S100, HMB45,and c-Kit. Histopathological findings from the hypopigmentedpatch 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 died3 months after the first visit.
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