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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.
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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