Case Reports

Aggressive infantile melanoma arising in a congenital nevus with rare BRAF and BCOR mutations: a case report and literature review of pediatric melanoma

Publisher's note
All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.
Published: 4 February 2026
487
Views
189
Downloads

Authors

We report a case of aggressive melanoma in a 14-month-old girl, arising in a congenital nevus with multiple satellite lesions on the lower back and buttocks. The tumor exhibited a sarcomatous-like histology and harbored rare BRAF (p.Asp594Gly) and BCOR (p.Leu1480GlyfsTer11) mutations. Treatment included surgery and systemic therapies (nivolumab and ipilimumab, followed later by tovorafenib). Despite the initial response, the disease progressed rapidly with pulmonary metastases and lymphadenopathy. The patient’s clinical course was marked by aggressive local progression and therapeutic challenges. This case highlights the rarity of such presentations and the need for further research into the clinicopathological and molecular features of infantile melanoma arising in congenital melanocytic nevus (CMN).

Downloads

Download data is not yet available.

Citations

1. Aldrink JH, Polites SF, Austin M. Pediatric Melanoma-Diagnosis, Management, and Anticipated Outcomes. Surg Oncol Clin N Am 2021;30:373-88.
2. Pampena R, Piccolo V, Muscianese M, et al. Melanoma in children: A systematic review and individual patient meta-analysis. J Eur Acad Dermatol Venereol 2023;37:1758-76.
3. Paradela S, Fonseca E, Prieto VG. Melanoma in children. Arch Pathol Lab Med 2011;135:307-16.
4. Tariq S, Shallwani H, Waqas M, Bari ME. Congenital and infantile malignant melanoma of the scalp: A systematic review. Ann Med Surg (Lond) 2017;21:93-5.
5. Alos L, Carrasco A, Teixidó C, et al. Melanoma on congenital melanocytic nevi. Pathol Res Pract 2024;256.
6. Tan S, Hu H, Li G, et al. Prevalence, incidence density and standardized morbidity rate of melanoma among patients with congenital melanocytic naevi: a systematic review. Clin Exp Dermatol 2024;49:765-73.
7. Pastore LM, Valentini R, Marghoob AA. Congenital melanocytic nevi and risk of melanoma. Clin Dermatol 2025;43:378-84.
8. Caccavale S, Calabrese G, Mattiello E, et al. Cutaneous Melanoma Arising in Congenital Melanocytic Nevus: A Retrospective Observational Study. Dermatology 2021;237:473-8.
9. Kugar M, Akhavan A, Ndem I, et al. Malignant Melanoma Arising from a Giant Congenital Melanocytic Nevus in a 3-Year-Old: Review of Diagnosis and Management. J Craniofac Surg 2021;32:E342-5.
10. Yao Z, Yaeger R, Rodrik-Outmezguine VS, et al. Tumours With Class 3 BRAF Mutants Are Sensitive to the Inhibition of Activated RAS. Nature 2017;548:234-8.
11. Dankner M, Rose AAN, Rajkumar S, et al. Classifying BRAF Alterations in Cancer: New Rational Therapeutic Strategies for Actionable Mutations. Oncogene 2018;37:3183-99.
12. Lokhandwala PM, Tseng LH, Rodriguez E, et al. Clinical Mutational Profiling and Categorization of BRAF Mutations in Melanomas Using Next Generation Sequencing. BMC Cancer 2019;19:665.
13. de la Rosa Carrillo D, Vindenes H, Kinsler VA, et al. Aggressive Melanoma in an Infant With Congenital Melanocytic Nevus Syndrome and Multiple, NRAS- and BRAF-Negative Nodules. Pediatr Dermatol 2018;35:e281-5.
14. Trozak DJ, Rowland WD, Hu F. Metastatic Malignant Melanoma in Prepubertal Children. Pediatrics 1975;55:191-2.
15. Rouillé T, Aractingi S, Kadlub N, et al. Local Inhibition of MEK/Akt Prevents Cellular Growth in Human Congenital Melanocytic Nevi. J Invest Dermatol 2019;139:2004-15.e13.
16. Choi YS, Erlich TH, von Franque M, et al. Topical Therapy for Regression and Melanoma Prevention of Congenital Giant Nevi. Cell 2022;185:2071-85.e12.
17. Baltres A, Salhi A, Houlier A, et al. Malignant Melanoma With Areas of Rhabdomyosarcomatous Differentiation Arising in a Giant Congenital Nevus With RAF1 Gene Fusion. Pigment Cell Melanoma Res 2019;32:708-13.
18. Ferrari A, Lopez Almaraz R, Reguerre Y, et al. Cutaneous Melanoma in Children and Adolescents: The EXPeRT/PARTNER Diagnostic and Therapeutic Recommendations. Pediatr Blood Cancer 2021;68:e28992.
19. Geoerger B, Kang HJ, Yalon-Oren M, et al. Pembrolizumab in Pediatric Patients With Advanced Melanoma or a PD-L1-Positive, Advanced, Relapsed, or Refractory Solid Tumor or Lymphoma (KEYNOTE-051): Interim Analysis of an Open-Label, Single-Arm, Phase 1–2 Trial. Lancet Oncol 2020;21:121-33.
20. Trozak DJ, Rowland WD, Hu F. Metastatic Malignant Melanoma in Prepubertal Children. Pediatrics 1975;55:191-2
21. Kilburn LB, Khuong-Quang DA, Hansford JR, et al. The type II RAF inhibitor tovorafenib in relapsed/refractory pediatric low-grade glioma: the phase 2 FIREFLY-1 trial. Nat Med 2024;30:207-17. Erratum in: Nat Med 2024;30:1500.

How to Cite



1.
Mordechai O, Ofir H, Leitner O, Bergman R, Feldman T, Ash S, et al. Aggressive infantile melanoma arising in a congenital nevus with rare BRAF and BCOR mutations: a case report and literature review of pediatric melanoma. Dermatol Reports [Internet]. 2026 Feb. 4 [cited 2026 May 24];. Available from: https://journals.pagepress.net/dr/article/view/10470