An SRF-Rearranged Malignant Cellular Myoid Neoplasm with a Novel
SRF-MKL2 Fusion: A Case Report
Abstract
10-20% of soft tissue sarcomas cannot be accurately classified with
histology and immunohistochemistry (IHC) and require further molecular
investigation. We report an unclassified myoid neoplasm in a 5-year-old
girl presenting with localized left heel swelling and impaired
weight-bearing. Histology and IHC determined this as an undifferentiated
sarcoma. Molecular work-up of this soft-tissue lesion demonstrated a
novel SRF-MKL2 fusion as well as chromosomal copy number
anomalies including 1p, 6q, 22 loss, and 1q gain. Pathologic and
molecular features of this tumor fit best in the SRF-rearranged family
of cellular myoid tumors. The patient remains disease-free 20 months
after margin-negative resection.