Chordoma is a rare malignant tumor which arises from notochordal remnants and is primarily found in bones of the axial skeleton. The incidence of chordoma is 0.08 cases per 100 000 population per year, with an M:F ratio of approximately 1.8:1. Chordoma accounts for up to 2% of all malignant bone tumors. All ages are affected, but chordoma most commonly occurs in the fifth to seventh decades of life.^1,2 27% of tumors demonstrate copy-number gain of TBXT (T-Box Transcription Factor T) gene (which encodes brachyury). Familial cases of chordoma demonstrate a germline tandem duplication of TBXT gene³. Rare cases of childhood chordomas occur in the setting of tuberous sclerosis, demonstrate germline loss-of-function mutations in the tumor suppressor gene TSC1 or TSC2⁴.

In addition, PI3K signaling mutations have been reported in 16% of cases, and mutations (always inactivating) of LYST have been described in 10% of cases⁵. These tumors are remarkably chemoresistant. So, currently, the primary treatment modality is gross surgical resection followed by post-operative radiotherapy⁶. There are several clinical trials looking into other possible adjuvant systemic medical therapies for this tumor². The prognosis of the patient depends on a variety of factors, including, completeness of surgical resection, age, sex and whether radiation is employed⁷. Overall medial survival is 7 years. Aggressive surgery and post-operative targeted radiotherapy can result in up to 45-65% survival at 10 years; however incomplete excision with conventional radiation results in a survival of only 20% at 5-years. Up to 60% of patients ultimately die from disease due to local recurrence. Metastases are uncommon (<10% of cases) and when present, lung, bone, liver and soft tissues are most common metastatic sites¹.

In this patient, subtotal resection was performed due to proximity of the clival mass to vital structures and post-operative radiotherapy was performed. The patient was monitored by imaging surveillance every 6 months which showed interval increase in residual tumor. At 3 years, post-operation, he started experiencing more difficulty swallowing and speaking, which was progressive. Subsequently, metastatic disease to left cervical lymph node was confirmed on MRI imaging, which was treated with radiation, after discussion in neuro-onco tumor board. He was also put on Gleevec. The patient succumbed to tumor progression and recurrence 5 years post-resection.