TRAF7 ‐Mutated Fibromyxoid Spindle Cell Tumor of Bone: An Osseous Case Expanding the Spectrum of TRAF7 ‐Mutated Tumors With Over 20 Years Clinical Follow‐Up

TL;DR

A rare bone tumor with a TRAF7 mutation is described, showing slow growth over 20 years without aggressive features.

Contribution

This is the first reported case of a TRAF7-mutated fibromyxoid spindle cell tumor arising in bone with long-term clinical follow-up.

Findings

TRAF7 p.Y563C mutation was identified in a fibromyxoid spindle cell tumor of bone.

The tumor showed minimal cytologic atypia and no local recurrence after resection.

The case expands the known spectrum of TRAF7-mutated tumors beyond previously described mesenchymal tumors.

Abstract

TRAF7 mutations are a rare occurrence in human cancer and have recently been described in a group of mesenchymal tumors with varying clinical course. Herein, we expand the spectrum of TRAF7‐mutated fibromyxoid spindle cell tumors by reporting the first case to arise in bone. A 60‐year‐old woman presented with right knee pain and was incidentally found to have a left distal femur lesion, which was first detected 20 years prior when it was favored to be benign. Recent imaging studies revealed significant interval growth with focal cortical destruction and soft tissue extension. Histologic examination showed a bland spindle cell neoplasm with fibrous to myxoid stroma. Rare mitotic figures were present; necrosis and marked cytologic atypia were absent. Immunohistochemical work‐up showed that the spindle cells only demonstrated focal cytoplasmic staining with L1CAM, and whole exome sequencing identified a TRAF7 p.Y563C missense mutation. The tumor was resected, and the patient is recovering well at 2 months with no evidence of local recurrence or distant disease. This report is the first known case of a TRAF7‐mutated fibromyxoid spindle cell tumor of bone with the longest clinical follow‐up reported to date.

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