Research Papers:

Analysis of KIT gene mutations in patients with melanoma of the head and neck mucosa: a retrospective clinical report

Ullyanov Bezerra Toscano de Mendonça _, Claudio Roberto Cernea, Leandro Luongo Matos and Roberto Rego Monteiro de Araujo Lima

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Oncotarget. 2018; 9:22886-22894. https://doi.org/10.18632/oncotarget.25094

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Ullyanov Bezerra Toscano de Mendonça1, Claudio Roberto Cernea2, Leandro Luongo Matos2 and Roberto Rego Monteiro de Araujo Lima1

1Department of Head and Neck Surgery, Instituto Nacional do Cancer do Rio de Janeiro, Rio de Janeiro, Brazil

2Department of Head and Neck Surgery, School of Medicine, University of São Paulo, Sao Paulo-SP, Brazil

Correspondence to:

Ullyanov Bezerra Toscano de Mendonça, email: [email protected]

Keywords: mucosal melanoma; KIT; c-kit; mutation; proto-oncogene

Received: November 23, 2016     Accepted: March 22, 2018     Published: May 01, 2018


Unlike their cutaneous counterparts, head and neck mucosal malignant melanomas (HNMM) are more aggressive, and their prognostic markers have not been fully elucidated. This study, comprising 28 patients with HNMM, aimed to establish the relationship between different mutations and outcome, define the incidence of KIT mutations in HNMM, and identify the correlation among therapeutic options, histopathological findings, demographic data, and clinical response. Clinical analysis included patient characteristics, staging, primary and palliative treatments, and disease-free survival and overall survival (OS). Progression-free survival and OS were analyzed. Paraffin blocks were selected following histologic analyses, enabling DNA extraction. PCR amplification of exons 9, 11, 13, and 17, with different DNA concentrations, was performed. Patients were predominantly females (57%) and aged 27–85 years. All patients underwent surgery; 17 received adjuvant radiotherapy, and recurrences occurred in 82% patients. Oncologic mutations in KIT were found in 7 of 7 tumors, 3 in exon 9, 3 in exon 11, and 1 in exon 13. Predictive factors for recurrence were mitotic rate, vascular invasion, and perineural spread. There were no significant differences in DFS and OS according to KIT mutation. Our study results suggest that some patients might benefit from appropriate targeted therapy with kinase inhibitors.

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