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Spindle Cell Neoplasm With a Novel MN1::TAF3 Fusion: A Rare Case in a Toddler
Jesse White1, Kerri Becktell2, Amanda Hopp3
1Medical College of Wisconsin Affiliated Hospitals.
Abstract:
Spindle cell tumors in the pediatric population are uncommonly reported. This case discusses an 18-month-old who presented initially with unilateral ptosis and was found to have an orbital spindle cell tumor. Pathology evaluation of the tissue was extensive with nonspecific morphologic and immunohistochemical features. Molecular testing demonstrated an MN1::TAF3 fusion on RNA sequencing, which has not been previously described in the literature in association with spindle cell neoplasms. This case highlights the challenging nature of classifying and treating a tumor with a novel fusion.
Insights
Pediatric orbital spindle cell tumors are rare. A novel MN1::TAF3 gene fusion was identified in an 18-month-old, presenting diagnostic and therapeutic challenges.
Area of Science:
- Pediatric oncology
- Molecular pathology
- Ophthalmology
Background:
- Spindle cell tumors are infrequently documented in children.
- Orbital tumors in pediatric patients require careful diagnosis and management.
- Unilateral ptosis can be an initial sign of orbital pathology.
Observation:
- An 18-month-old infant presented with unilateral ptosis.
- An orbital spindle cell tumor was diagnosed.
- Initial histopathological and immunohistochemical analyses showed nonspecific features.
Findings:
- Extensive molecular testing revealed a novel MN1::TAF3 gene fusion.
- This fusion has not been previously reported in spindle cell neoplasms.
- RNA sequencing identified the specific molecular alteration.
Implications:
- The novel fusion presents diagnostic and classification challenges.
- This finding expands the molecular understanding of pediatric spindle cell tumors.
- Further research is needed to determine therapeutic strategies for tumors with this fusion.
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