A case report of primary cardiac sarcoma: a diagnostic and therapeutic challenge

Primary cardiac tumours are rare and the majority are benign; of those that are malignant sarcomas are the most common and have a poor prognosis. Genomic sequencing of tumours has permitted targeted treatments in other tumour types such as leukaemia and non-small cell lung cancer. These targeted treatments such as tyrosine kinase inhibitors and cyclin-dependent kinase 4 (CDK-4) inhibitors are effective and better tolerated than chemotherapy options. Our case highlights their potential use in cardiac tumours.

An 18-year-old female patient presented with severe dyspnoea and sinus tachycardia. A computed tomography chest scan identified a large filling defect within the left atrium consistent with a cardiac tumour. The mass was surgically excised and confirmed to be an undifferentiated pleomorphic sarcoma. Treatment was with doxorubicin and ifosfamide. Tumour genome sequencing was undertaken revealing an amplification of 12q including CDK-4 identifying Palbociclib (a CDK-4 inhibitor) as a potential innovative future therapeutic option in the case of failure of first-line therapy. The patient made a full recovery with no evidence of recurrence at 30 months.

Cardiac tumours are often identified during investigations for other conditions as their non-specific symptoms mimic other conditions, and a high degree of suspicion is required to diagnose them. To date Palbociclib is not yet licenced for use in cardiac sarcomas. It has been shown to be more tolerable that chemotherapy in breast cancer and offers a viable alternative therapy in cardiac sarcomas. More importantly this case demonstrates the importance of tumour genomic sequencing in identifying tumour-specific mutations that can be targeted.