Clinico-Pathological and Clinical Outcomes of Soft Tissue Sarcoma With FUS-TFCP2 or EWSR1-TFCP2 Fusions: A Case Series From North India
Karishma Agarwal, Sameer Rastogi, Sunil Pasricha, Yamini Dharmashaktu, Aditi Aggarwal
TL;DR
This paper reports four rare cases of soft tissue sarcoma with TFCP2 gene fusions in North India, highlighting their clinical features and treatment outcomes.
Contribution
The study presents the first Indian case series of TFCP2 fusion-positive sarcomas with detailed clinicopathological data.
Findings
All four patients were male, with a median age of 26.5 years and primary tumors in bone.
Three patients were initially misdiagnosed, but responded well to chemotherapy and radiation.
All four patients are alive at follow-up, with two receiving treatment for metastatic disease.
Abstract
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…
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Taxonomy
TopicsSarcoma Diagnosis and Treatment · Bone Tumor Diagnosis and Treatments · Neurofibromatosis and Schwannoma Cases