Epithelioid and spindle cell rhabdomyosarcoma of the rib with FUS‑TFCP2 fusion: A case report and literature review
Rhabdomyosarcoma (RMS) with FUS RNA binding protein‑transcription factor cellular promoter 2 (FUS‑TFCP2) fusion is categorized as a subtype of spindle cell/sclerosing RMS. The current study reports a case of rib RMS with FUS‑TFCP2 fusion in a 29‑year‑old male patient who presented with a rib mass that had existed for 3 months without causing any discomfort. A computed tomography scan revealed an occupying lesion at the second rib bone with a surrounding soft‑tissue mass, along with left cervical lymph node metastasis. Histologically, the tumor was composed of fascicles of spindle to epithelioid cells, some of which showed eccentric nuclei resembling rhabdomyoblasts. The stroma was collagenous/sclerotic and occasionally myxoid. Immunohistochemistry revealed positive expression for desmin, myoblast determination protein 1 and smooth muscle actin, with partial expression of anaplastic lymphoma kinase, pan‑CK and myogenin. Next‑generation sequencing confirmed FUS‑TFCP2 fusion and showed deletions in cyclin‑dependent kinase inhibitor (CDKN)2A and CDKN2B. Fluorescence in situ hybridization using a break‑apart probe showed a translocation of TFCP2. Left cervical lymph node metastasis was confirmed. The patient succumbed to the disease 4 months after surgery. RMS with FUS‑TFCP2 fusion is rare, highly aggressive and associated with a poor prognosis.
