Ann Dermatol.  2015 Apr;27(2):201-205. 10.5021/ad.2015.27.2.201.

Amelanotic Acral Melanoma Associated with KIT Mutation and Vitiligo

• Kim YJ
• Lee JB
• Kim SJ
• Lee SC
• Won YH
• Yun SJ

• KMID: 2264812
• DOI: http://doi.org/10.5021/ad.2015.27.2.201

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.

Keyword

Amelanotic melanoma; KIT mutation; Prognosis; Vitiligo

MeSH Terms

Aged, 80 and over
Brain
Drug Therapy
Epithelioid Cells
Exons
Humans
Liver
Lung
Melanocytes
Melanoma*
Melanoma, Amelanotic
Neoplasm Metastasis
Prognosis
Risk Factors
Ulcer
Vitiligo*

Figure

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  Fig. 1 (A, B) An erythematous ulcerated tumor on the fingertip and a protruding subcutaneous nodule on the dorsum of the hand. (C) Hypopigmented patches on the face.

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  Fig. 2 (A, B) Biopsy of the ulcerative tumor on the fingertip shows sheet-like arrangements of pleomorphic atypical tumor cells (H&E; A: ×100, B: ×400). (C~E) In immunohistochemical staining, tumor cells stained positive for S100 (C: ×200), HMB45 (D: ×200), and c-Kit (E: ×200).

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  Fig. 3 (A) Biopsy of a hypopigmented patch on the face shows the complete absence of melanocytes in the epidermis (H&E, ×100). (B) In immunohistochemical staining, the biopsy was negative for Melan-A (×100).

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  Fig. 4 A KIT mutation in exon 17 (Y823D) is detected in the tumor.

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