Complete response of stage IV anal mucosal melanoma expressing KIT Val560Asp to the multikinase inhibitor sorafenib

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Abstract

Background

A 79-year-old man presented to his primary care physician with a 2-month history of pruritus ani and a pigmented nodular lesion was discovered in the posterior rectum. The patient had no other symptoms, or any family history of malignancy.

Investigations

Physical examination; excisional biopsy; CT scan of the chest, abdomen and pelvis; lung biopsy; blood tests; tumor immunohistochemistry for KIT, vascular endothelial growth factor platelet-derived growth factor receptor α and β, and mismatch-repair proteins MLH1, MSH2, and MSH6; and KIT and BRAF tumor genotyping.

Diagnosis

Stage IV M1b metastatic anal mucosal melanoma.

Management

Wide local excision with mucosal advancement of the rectal wall, external-beam radiation, and sorafenib-temozolomide therapy.

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