Primary cardiac sarcoma: a diagnostic and therapeutic challe
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. The present case published in the European Journal of Heart Case Reports, 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.

Learning points:-
This case illustrates two crucial aspects of cardiac tumours;
(i) they can masquerade as other conditions and
(ii) their genomic analysis can potentiate individualized therapy.

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