Abstract

Melanocytic tumors in the pediatric population present a unique diagnostic challenge due to limited literature, lower prevalence compared to adults, and distinct causative factors such as genetic predisposition or de novo molecular mutations. Atypical Spitzoid neoplasms, Spitzoid melanomas, and melanomas arising from Spitz nevi share many histologic features and lack reliable distinguishing immunohistochemical markers. Furthermore, few reported cases include information on histological and genetic correlations, and even fewer report follow-up concerning clinical behavior and metastasis. Therefore, it has not been possible to establish a professional consensus on evaluating prognostic features of melanocytic lesions in the pediatric population. This study reports the histologic, genetic, and clinical profiles of eight pediatric cases, including four atypical Spitzoid neoplasms, one atypical cellular blue nevus, one nodular melanoma arising from a congenital melanocytic nevus, and two Spitzoid melanomas. Genetic profiles were elucidated using a combination of the following: comparative genomic hybridization (CGH), chromosomal microarray profile (CMP), and next-generation sequencing (NGS). Additionally, we provide long-term, follow-up data on the recurrence and metastasis status of malignant cases. This case series contributes to the current data set of Spitzoid melanocytic tumors specific to the pediatric population, which is necessary for further research to expand our collective understanding of diagnostic and prognostic factors specific to pediatric melanocytic neoplasms.