Giant cell-rich solitary fibrous tumour of the lacrimal gland with prominent angiomatoid cystic changes and an underlying NAB2ex3-STAT6ex18 fusion

Abstract

Giant cell-rich solitary fibrous tumour (GCR-SFT) is a rare variant of SFT with a predilection for the orbital region. Despite its hypervascularity, extensive angiomatoid cystic changes are unusual in GCR-SFT and may pose a diagnostic challenge. A 47-year-old man presented with a right eye proptosis and a protruding tumour of several years’ duration with recently accelerated tumour growth. MRI revealed a cystic-solid heterogeneous mass arising from the lacrimal gland and displacing the globe. A subtotal excision of the mass was performed due to unanticipated hypervascularity and intraoperative bleeding. Pathologically, a vascular neoplasm was initially suspected. The diagnosis of GCR-SFT was made following careful evaluation and demonstration of CD34 and STAT6 expression. Molecular studies revealed a pathognomonic but rare NAB2ex3-STAT6ex18 fusion variant as well as a TP53 mutation suggestive of aggressive phenotype. The patient had a complete resolution of the proptosis but the clinical picture remains guarded due to incomplete resection.