The clinicopathological spectrum of sclerosing epithelioid fibrosarcoma: report of an additional series with review of the literature

Abstract

We present a case series of sclerosing epithelioid fibrosarcoma (SEF) to further characterise its clinical and pathological features. Twenty-one patients with SEF were included in this study. There were 12 males and nine females (range 25-63 years; median 38 years). Tumours were located in the kidney (n=5), thigh (n=3), chest wall (n=3), head and neck (n=2), bone (n=2), abdominal wall (n=1), psoas major (n=1), retroperitoneum (n=1), omentum (n=1), popliteal space (n=1) and lung (n=1). Tumour sizes ranged from 2.5 to 16 cm (median 7 cm). Microscopically, epithelioid tumour cells were arranged in nests and cords and embedded in a dense sclerotic stroma. Some tumours showed myxoid areas, fibroma-like areas, acinar growth patterns and haemangiopericytoma-like appearance. A few tumour cells presented a rhabdomyoid shape. Calcification, ossification, cystic and necrosis were observed in some cases. The diagnosis was confirmed by immunoreactivity for MUC4, and by further fluorescence in situ hybridisation (FISH) or next generation sequencing (NGS) analysis. Clinical follow-up was available for 16 cases (median, 24 months; range 6-62 months). Seven patients developed metastases to lung (n=3), bone (n=3), brain (n=2) and back (n=1). Four patients developed a local recurrence. Three patients died of disease. Overall survival (OS) of SEF was related to patient age (p=0.001) and progression-free survival (PFS) was related to tumour size (p=0.046). In addition to soft tissue, SEF is more likely to involve the viscera and the abdominal cavity and has morphological variants. Familiarity with its distinctive clinical and pathological features helps avoid misdiagnosis.

Keywords: EWSR1; FUS; MUC4; Soft tissue neoplasms; differential diagnosis; morphological features; sclerosing epithelioid fibrosarcoma.