Objective:

To present an interesting case of spinal cord involvement of Glioblastoma (GBM) in a young man with Lynch syndrome (LS) and previously stable intracranial GBM.

Background:

Intramedullary spinal cord metastases from GBM are rare, occurring in only 1–2% of cases. Patients with LS, caused by germline mutations in DNA mismatch repair (MMR), are at increased risk of GBM with reported cases of long-term survival, but the clinical behavior for glioblastoma in LS patients is not well described.

Design/Methods:

Case report.

Results:

A 37-year-old man with LS (MSH2 mutation) was diagnosed with a left frontal glioblastoma, IDH WT, MGMT unmethylated and treated with resection, chemoradiation with temozolomide, adjuvant temozolomide, and bevacizumab. No prior cancer history. His GBM had CDKN2A/B homozygous deletion, MTAP deletion, and NF1, PIK3CA, SETD2, and TP53 mutations. During surveillance he presented with progressive bilateral lower extremity weakness, constipation, and urinary retention.  MRI of the spine revealed an enhancing intramedullary expansile lesion at the thoracic level. Cerebrospinal fluid (CSF) showed WBC 17 μL, RBC μL, protein 104 mg/dL, and glucose 97 mg/dL. CSF cytology was positive for unspecific atypical cells. Serum NMO and MOG were negative. Subsequently, the patient underwent an excisional biopsy of the intramedullary mass. Pathology demonstrated similar microscopic findings to the prior brain biopsy consistent with a metastatic glioblastoma. He was treated with radiation and temozolomide and passed away 5 months after medical complications.

Conclusions:

This case highlights a rare presentation of intramedullary spinal dissemination of GBM in a patient with LS. Both intramedullary GBM and GBM associated with GBM are rare and our case suggests the possibility of aggressive GBM behavior.