Clinicopathologic Features, Management, and Outcomes Of Pediatric CRTC1::TRIM11 and MED15::ATF1 Tumors With Spitzoid Morphology: A Case Series

Pediatr Blood Cancer. 2025 Aug;72(8):e31814. doi: 10.1002/pbc.31814. Epub 2025 May 19.

Abstract

Limited information is available on the clinicopathologic features and management of pediatric CRTC1::TRIM11 (CTRTs) and MED15::ATF1-rearranged tumors (MARTs). In this series of pediatric CTRTs (n = 5) and MARTs (n = 2), all tumors exhibited spitzoid morphology and expressed melanocytic markers. Metastatic progression occurred in one CTRT and two MARTs: all three received immunotherapy, resulting in disease control in two patients and one death due to progressive disease. A fourth individual had lymph node micrometastasis that remained stable without progression. This case series highlights the potentially aggressive behavior of these tumors and suggests that immunotherapy may be an effective treatment option for advanced disease.

Keywords: CRTC1::TRIM11 fusion; MED15::ATF1 fusion; Spitz; immunotherapy; melanoma; spitzoid.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Child
  • Child, Preschool
  • Female
  • Humans
  • Immunotherapy
  • Infant
  • Male
  • Nevus, Epithelioid and Spindle Cell* / genetics
  • Nevus, Epithelioid and Spindle Cell* / pathology
  • Nevus, Epithelioid and Spindle Cell* / therapy
  • Prognosis
  • Skin Neoplasms* / genetics
  • Skin Neoplasms* / pathology
  • Skin Neoplasms* / therapy
  • Transcription Factors* / genetics
  • Tripartite Motif Proteins* / genetics
  • Ubiquitin-Protein Ligases* / genetics

Substances

  • Transcription Factors
  • CRTC1 protein, human
  • Ubiquitin-Protein Ligases
  • Tripartite Motif Proteins