A prospective, comprehensive registry that integrates the molecular analysis of pediatric and adolescent melanocytic lesions
- PMID: 34228365
- PMCID: PMC8478797
- DOI: 10.1002/cncr.33750
A prospective, comprehensive registry that integrates the molecular analysis of pediatric and adolescent melanocytic lesions
Abstract
Background: Childhood melanocytic tumors represent a diagnostic and therapeutic challenge, and additional research is needed to better define the natural history of these tumors.
Methods: The authors developed a comprehensive, prospective registry called Molecular Analysis of Childhood Melanocytic Tumors for children and adolescents with an atypical Spitz tumor/Spitz melanoma (AST/SM), conventional or adult-type melanoma (CM), melanoma arising in a giant congenital nevus (MCM), or atypical melanocytic proliferation of other types (OT) to better define the clinical behavior of these lesions by incorporating an integrated clinicopathologic and molecular analysis using centralized pathology review and various platforms, including fluorescence in situ hybridization; array comparative genomic hybridization; and whole genome, exome, and capture targeted panels.
Results: From May 2016 to November 2019, 70 children were enrolled with a median age at diagnosis of 9.1 years. Thirty-seven had AST/SM, 17 had CM, 4 had MCM, and 12 had OT. Patients with AST/SM were younger (median age, 7 years), and their tumor most commonly arose in the extremities and trunk. The most common gene rearrangements included MAP3K8 and ALK. None of the 33 patients who underwent a TERT promoter mutation analysis had a mutation, and all patients were alive. Among the CM patients, the median age was 13 years; 11 had a BRAFV600E mutation, and 7 had a TERT promoter mutation. Three patients died of their disease. All 4 patients with MCM harbored an NRASQ61 mutation and died of their disease. The OT group was heterogenous, and all patients survived.
Conclusions: The incorporation of an integrated clinicopathologic and genomic analysis identifies distinct subgroups of pediatric melanocytic lesions that have different clinical behaviors. The integration of this combined diagnostic modality can help to individualize diagnoses and treatments for these patients.
Keywords: Spitz melanoma; TERT; atypical Spitz; melanoma; pediatric melanocytic lesions.
© 2021 American Cancer Society.
Conflict of interest statement
Conflicts of Interest: none
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Comment in
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What's new in pediatric melanoma and Spitz tumors? Pretty much everything.Cancer. 2021 Oct 15;127(20):3720-3723. doi: 10.1002/cncr.33749. Epub 2021 Jul 6. Cancer. 2021. PMID: 34228362
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