SCI
Isabelle G. Hentschel, BA
Medical Student
Geisel School of Medicine at Dartmouth
Rye, New York, United States
Taylor A. Bourgeois, MD
Resident
Mount Sinai
Jersey City, New Jersey, United States
Miguel X. Escalon, MD, MPH
Professor
Icahn School of Medicine at Mount Sinai
New York, New York, United States
Isabelle G. Hentschel, BA
Geisel School of Medicine at Dartmouth
Rye, New York, United States
A 56-year-old female with Li-Fraumeni syndrome (LFS) and complex oncologic history - including low-grade appendiceal mucinous neoplasm, papillary thyroid cancer, and uterine leiomyosarcoma with metastases to the liver, lung, and bone, status post appendectomy and TAH-BSO - presented with disease progression despite treatment. Recent hospitalization for back pain and lower extremity weakness revealed new epidural tumor burden at T12, L4, L5, and S1. She underwent L3-L5 laminectomy and decompression and was discharged on dexamethasone with planned post-operative radiation at L4-L5. After her first radiation session, she was readmitted for worsening pain and weakness. MRI showed progression, and neurosurgery found no role for further surgery. After completing five rounds of radiation, she was admitted to inpatient rehabilitation for persistent weakness, graded C8 AIS D. By discharge, preliminary pathology suggested the epidural lesion was sarcomatous in origin, though it was unclear whether this represented metastatic uterine leiomyosarcoma or a new primary sarcoma.
Discussions:
LFS is a rare autosomal dominant cancer predisposition syndrome associated with mutations in the TP53 gene. The most common associated tumors include adrenocortical carcinomas, breast cancer, CNS tumors, osteosarcomas, and soft-tissue sarcomas. In LFS, sarcomas most often occur in the abdomen and extremities, while CNS or spinal involvement is rarely reported. Furthermore, leiomyosarcoma typically metastasizes to the lung, peritoneum, liver, and bone; epidural spinal disease is also uncommon. This case highlights a rare instance of spinal cord injury caused by sarcoma in a patient with LFS.
Conclusions:
Patients with LFS may develop multifocal, aggressive spinal tumors. Early rehabilitation is critical for optimizing function. In this case, rehabilitation supported independence at home and allowed continued participation in outpatient chemotherapy and oncologic care.
