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Incidental Detection of a Rare Pediatric High-Grade Fibrosarcoma in a Post-traumatic Setting: The Conundrum of

Kamand Khalaj1, Nikoo Fattahi1, Allen C Omo-Ogboi2

  • 1Department of Diagnostic and Interventional Imaging, University of Texas Health Science Center, Houston, USA.

Case Reports in Radiology
|December 13, 2023
PubMed

Insights

A rare infantile fibrosarcoma (IF) presented as an abdominal mass in a 14-year-old. Molecular analysis confirmed a high-grade fibrosarcoma with a KMT2D:BCOR fusion.

Area of Science:

  • Pediatric Oncology
  • Surgical Pathology
  • Molecular Diagnostics

Background:

  • Infantile fibrosarcoma (IF) is a rare pediatric malignancy typically affecting extremities.
  • Abdominal presentations of IF are uncommon, posing diagnostic challenges.

Observation:

  • A 14-year-old patient presented with an abdominal mass initially suspected as a hematoma after blunt trauma.
  • CT and MRI imaging revealed a progressive enhancing mesenteric mass, atypical for a simple hematoma.

Findings:

  • Surgical resection and histopathological examination confirmed a high-grade fibrosarcoma.
  • Molecular analysis identified a specific KMT2D:BCOR gene fusion, a key diagnostic marker.

Implications:

  • This case highlights the importance of considering rare tumors in the differential diagnosis of abdominal masses, even after trauma.
  • Identification of the KMT2D:BCOR fusion provides critical information for potential targeted therapies and understanding tumor biology.

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