Metastatic Spitzoid Melanoma in a Child: Case Report

Abstract

Spitzoid melanoma is an extremely rare and aggressive melanocytic neoplasm in childhood, and is clinically and histopathologically difficult to differentiate from other Spitzoid lesions. We present the case of a 6-year-old girl diagnosed with BRAF V600E-mutated infantile Spitzoid melanoma, metastatic to regional lymph nodes. The patient was treated with pembrolizumab (anti-PD-1) and local cryosurgery for palliative purposes, with a good initial partial response. Subsequent disease progression prompted the indication of salvage targeted therapy. She remains under multidisciplinary follow-up, has well tolerated treatment, and has not experienced visceral progression to date.This case underscores the diagnostic complexity of Spitzoid melanocytic tumors in childhood and highlights the importance of integrating histological and molecular data to guide therapeutic decisions.

Description

Spitzoid melanoma refers to melanomas that display spitzoid morphology but lack the molecular alterations characteristic of Spitz tumors. In the pediatric population, it represents a rare and difficult- to-diagnose entity, with significant overlap in clinical, histopathological, and molecular features with other Spitzoid lesions:Spitz nevus (benign), atypical Spitz tumor (AST, intermediate potential), Spitz melanoma (SM, malignant).(1-4) Clinically, pediatric Spitzoid melanomas often present as rapidly growing exophytic or ulcerated nodules, frequently located on the extremities. They frequently exhibit aggressive clinical behavior, including a high propensity for regional lymph node involvement. (1-4)

Keywords

Melanoma, Skin Neoplasms, Spitzoid lesions, Mutation, BRAF, Lymphatic Metastasis

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