Undifferentiated Pleomorphic Sarcoma of the Spine in a patient with Li-Fraumeni syndrome: a case report

Abstract

Background Undifferentiated pleomorphic sarcoma (UPS) is an aggressive tumor that rarely occurs in the spine. We present a 38-year-old male patient with Li-Fraumeni syndrome and discuss the treatment and prognosis.Case presentation A 38-year-old male patient presented with bilateral lower extremity weakness accompanied by radiation pain. He had been diagnosed with right adrenal cortical carcinoma previously and had a strong family history of cancer. PET/CT indicated increased uptake in many parts of the body, especially the right adrenal gland, the left occipital lobe, and the L4 vertebral body (VB). MRI also revealed the destruction of the L4 vertebral body and a paraspinal soft-tissue mass. The tumor was completely resected and pathological findings revealed UPS. Subsequent genetic testing revealed a mutation in the TP53 gene, which is consistent with Li-Fraumeni syndrome (LFS). The patient received postoperative adjuvant radiotherapy and did not develop local recurrence, metastasis, or secondary cancer during the 31-month follow-up.Conclusions Spinal UPS is a rare aggressive tumor with a poor prognosis. Surgery alone can improve the survival of patients but cannot effectively control the disease. In spinal UPS patients with LFS, we think that the prognostic benefits of postoperative adjuvant therapy outweigh the risks of long-term secondary cancer. Family history of cancer and genetic testing can help diagnose LFS, and MRI of the spine can aid the early detection of microlesions. For these patients, early diagnosis and intervention can effectively improve survival.