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      Amelanotic Acral Melanoma Associated with KIT Mutation and Vitiligo

      case-report

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          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.

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          Most cited references14

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          Phase II, open-label, single-arm trial of imatinib mesylate in patients with metastatic melanoma harboring c-Kit mutation or amplification.

          Melanomas harbor aberrations in the c-Kit gene. We tested the efficiency of the tyrosine kinase inhibitor imatinib in selected patients with metastatic melanoma harboring c-Kit mutations or amplifications. Forty-three patients with metastatic melanoma harboring c-Kit aberrations were enrolled on this phase II trial. Each patient received a continuous dose of imatinib 400 mg/d unless intolerable toxicities or disease progression occurred. Fifteen patients who experienced progression of disease were allowed to escalate the dose to 800 mg/d. Forty-three patients were eligible for evaluation, and the median follow-up time was 12.0 months. The median progression-free survival (PFS) was 3.5 months, and the 6-month PFS rate was 36.6%. Rate of total disease control was 53.5%: 10 patients (23.3%; 95% CI, 10.2% to 36.4%) and 13 patients (30.2%; 95% CI, 16.0% to 44.4%) achieved partial response (PR) and stable disease (SD), respectively. Eighteen patients (41.9%) demonstrated regression of tumor mass. Notably, nine of the 10 PRs were observed in patients with mutations in exons 11 or 13. The 1-year overall survival (OS) rate was 51.0%. The median PFS and OS times for patients who had PR or SD versus disease progression were 9.0 months versus 1.5 months (P < .001) and 15.0 months versus 9.0 months (P = .036), respectively. Imatinib 400 mg/d was well tolerated, and only one of the 15 patients who received dose escalation to 800 mg/d achieved SD. Imatinib demonstrated significant activity in patients with metastatic melanoma harboring genetic c-Kit aberrations, with an overall response rate of 23.3%. Escalation to 800 mg/d could not restore disease control.
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            Vitiligo is an independent favourable prognostic factor in stage III and IV metastatic melanoma patients: results from a single-institution hospital-based observational cohort study.

            The clinical features and the prognostic relevance of vitiligo lesions in melanoma patients are still controversial. This prospective observational study was designed to characterise the clinical features of melanoma-associated vitiligo, to analyse the association with other autoimmune manifestations and to ascertain whether the development of vitiligo lesions carries a prognostic relevance on the clinical course of melanoma. A total of 2954 consecutive patients have been included; multivariate analyses of distant metastasis-free survival (DMFS) and overall survival (OS) were carried out to ascertain the independent prognostic role of vitiligo as a time-dependent covariate. Vitiligo was demonstrated in 83 of 2954 melanoma patients (2.8%). A significantly higher percentage of autoimmune diseases was demonstrated in vitiligo patients (7 of 83) with respect to patients without vitiligo (80 of 2871) (P = 0.004). Multivariate analyses selected the time-dependent covariate vitiligo as the favourable independent prognostic variable associated to a longer DMFS in stage III and a higher OS in both stage III and stage IV. Melanoma-associated vitiligo should be considered as a distinct clinical entity, separate from vitiligo vulgaris, and identifies a subgroup of patients characterised by a high prevalence of immune-mediated diseases and by a favourable prognosis.
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              Amelanotic/hypomelanotic melanoma: clinical and dermoscopic features.

              Amelanotic malignant melanoma is a subtype of cutaneous melanoma with little or no pigment on visual inspection. It may mimic benign and malignant variants of both melanocytic and nonmelanocytic lesions. To evaluate whether dermoscopy is also a useful technique for the diagnosis of amelanotic/hypomelanotic melanoma (AHM). We conducted a retrospective clinical study of 151 amelanotic/hypomelanotic skin lesions from 151 patients with a mean age of 47 years (+/- 17.5 SD). Digitized images of amelanotic/hypomelanotic skin lesions were converted to JPEG format and sent by e-mail from the five participating centres. Lesions included 55 amelanotic/hypomelanotic nonmelanocytic lesions (AHNML), 52 amelanotic/hypomelanotic benign melanocytic lesions (AHBML), and 44 AHM, 10 (23%) of which were nonpigmented, truly amelanotic melanomas (AM). The 44 AHM lesions were divided into thin melanomas (TnM) 1 mm (15 cases), according to the Breslow index. Five clinical features (elevation, ulceration, shape, borders and colour) as well as 10 dermoscopic criteria (pigment network, pigmentation, streaks, dots/globules, blue-whitish veil, regression structures, hypopigmentation, leaf-like areas, multiple grey-bluish globules, central white patch) and eight vascular patterns (comma, arborizing, hairpin, dotted, linear irregular, dotted and linear irregular vessels, and milky-red areas) were evaluated in order to achieve clinical and dermoscopic diagnoses. Statistical analyses were performed with the chi2-test and Fisher's exact test, when appropriate. The most frequent and significant clinical features for TnM and TkM were asymmetry and ulceration (the latter only for TkM) compared with AHBML. Irregular dots/globules (62% vs. 35%; P
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                Author and article information

                Journal
                Ann Dermatol
                Ann Dermatol
                AD
                Annals of Dermatology
                Korean Dermatological Association; The Korean Society for Investigative Dermatology
                1013-9087
                2005-3894
                April 2015
                24 March 2015
                : 27
                : 2
                : 201-205
                Affiliations
                Department of Dermatology, Chonnam National University Medical School, Gwangju, Korea.
                Author notes
                Corresponding author: Sook Jung Yun, Department of Dermatology, Chonnam National University Medical School, 160 Baekseo-ro, Dong-gu, Gwangju 501-746, Korea. Tel: 82-61-379-7698, Fax: 82-62-222-4058, sjyun@ 123456chonnam.ac.kr
                Article
                10.5021/ad.2015.27.2.201
                4377412
                25834362
                54d45ab1-1b58-4123-92e9-0ca6e87564c2
                Copyright © 2015 The Korean Dermatological Association and The Korean Society for Investigative Dermatology

                This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License ( http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                : 01 July 2014
                : 22 September 2014
                : 07 October 2014
                Funding
                Funded by: Ministry of Education, Science and Technology (MEST)
                Award ID: 2011-0030034
                Categories
                Case Report

                Dermatology
                amelanotic melanoma,kit mutation,prognosis,vitiligo
                Dermatology
                amelanotic melanoma, kit mutation, prognosis, vitiligo

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