Periosteal Fasciitis With Unusual Radiologic Features Harboring a Novel STAG1::USP6 Fusion Gene.
Haider A MejbelGene P SiegalShi WeiPublished in: International journal of surgical pathology (2023)
Periosteal fasciitis is a subtype of nodular fasciitis originating from the periosteum. The diagnosis can be challenging and requires radiologic-pathologic correlation. Advances in molecular analysis confirmed that nodular fasciitis and its related lesions harbor a USP6 gene rearrangement with one of the several potential partners. Herein, we report a case of periosteal fasciitis with metaplastic bone formation detected incidentally during a radiologic survey for breast carcinoma. Radiologic examination revealed a 2.4 cm, heterogeneous, avidly enhancing lesion of the right femoral distal metaphysis concerning for low-grade periosteal chondrosarcoma. Histological examination of a core needle biopsy revealed a tumor composed of bland spindle cells with myofibroblastic and osteoblastic phenotypes admixed with immature bone and cartilaginous elements. Molecular analysis revealed a novel STAG1::USP6 fusion that helped arrive at the right diagnosis and further expands the molecular profile of USP6 -associated neoplasms.
Keyphrases
- low grade
- high grade
- single cell
- induced apoptosis
- genome wide
- ultrasound guided
- copy number
- bone mineral density
- oxidative stress
- cross sectional
- gene expression
- cell proliferation
- hepatitis c virus
- single molecule
- genome wide identification
- vascular smooth muscle cells
- signaling pathway
- postmenopausal women
- locally advanced
- climate change
- human health
- lymph node
- transcription factor
- bone loss
- genome wide analysis