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

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).

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Publication Details

Journal
Dermatology Reports
Published
2026-02-04
DOI
https://doi.org/10.4081/dr.2026.10470
Primary Topic
Cutaneous Melanoma Detection and Management
Type
article
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article

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

Emily Avitan‐Hersh, Oz Mordechai, Tzah Feldman, Hiba Zaaroura et al.
Dermatology Reports
Cutaneous Melanoma Detection and Management
article

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

Emily Avitan‐Hersh, Oz Mordechai, Tzah Feldman, Hiba Zaaroura, Hagit Ofir, Reuven Bergman, Shifra Ash, Ortal Leitner
article en

Abstract

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).

Dermatology Reports
Rambam Health Care Campus (IL), Rappaport Family Institute for Research in the Medical Sciences (IL)
Good health and well-being
Openalex Percentile: Top 67%
Cutaneous Melanoma Detection and Management
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Aggressive infantile melanoma arising in a congenital nevus with rare <i>BRAF</i> and <i>BCOR</i> mutations: a case report and literature review of pediatric melanoma — Emily Avitan‐Hersh, Oz Mordechai, et al. · Dermatology Reports (2026) | TGRS Research Map | TGRS