Acta Med Acad. 2025 Aug 28. doi: 10.5644/ama2006-124.482. Online ahead of print.
ABSTRACT
OBJECTIVE: To highlight the diagnostic and therapeutic challenges of Spitzoid melanoma in childhood, with a focus on its potential genetic predisposition.
CASE REPORT: A 7-year-old female patient presented with a growing nodular lesion on her upper leg. Excision was performed, and histopathological analysis confirmed a diagnosis of Spitzoid melanoma, classified as pT2a. Following a multidisciplinary review, wide local re-excision and sentinel lymph node biopsy (SLNB) were recommended. No residual tumor was found, and the SLNB was negative. A comprehensive diagnostic evaluation ruled out systemic disease, and no additional treatment was required. Germline genetic testing identified a pathogenic CHEK2 variant (c.444+1G>A), prompting recommendations for genetic counseling and close follow-up.
CONCLUSION: This case report contributes to the limited body of knowledge on pediatric Spitzoid melanomas and underscores the importance of genetic insights in guiding both diagnostic and treatment decisions. The detection of a CHEK2 mutation underscores the importance of genetic profiling in family counseling.
PMID:41268742 | DOI:10.5644/ama2006-124.482
