Clinico-Pathological and Clinical Outcomes of Soft Tissue Sarcoma With FUS-TFCP2 or EWSR1-TFCP2 Fusions: A Case...

Tumours with FUS-TFCP2 or EWSR1-TFCP2 mutations are classified under rhabdomyosarcomas at present. These tumours are exceedingly rare and on pathology show spindled to epitheloid cells, with a predisposition for gnathic bone involvement, with an aggressive outcome. We hereby present a total of four patients harbouring a FUS-EWSR1 TFCP2 mutation recruited over a period of 2.5 years. All four reported cases are males with median age of 26.5 years (range 22-37 years). Primary site in all four cases was bone, with three being of head and neck origin and one with a primary in femur. Three of our patients were misdiagnosed outside. All of our patients received chemotherapy at some point and three out of four cases received radiation with a good response (two patients with palliative doses of radiation also responded well). All four patients are alive at follow-up, two on treatment for metastatic disease. This is the first Indian case series reporting the clinicopathological details in patients with TFCP2 mutations.