Case report: Navigating treatment pathways for cardiac intimal sarcoma with PDGFRβ N666K mutation

TL;DR

A rare cardiac tumor case highlights how genomic profiling can guide treatment choices and adapt to genetic changes over time.

Contribution

This case report demonstrates the clinical utility of genomic profiling in guiding and adapting treatment for cardiac intimal sarcoma.

Findings

Genomic testing identified a PDGFRβ N666K mutation and MDM2/CDK4 amplifications, leading to effective pazopanib treatment.

Recurrence showed loss of the PDGFRβ mutation and reduced expression, indicating the need for adaptive treatment strategies.

PDGFRβ signaling is highlighted as a potential strategic target in cardiac intimal sarcoma.

Abstract

In the realm of rare cardiac tumors, intimal sarcoma presents a formidable challenge, often requiring innovative treatment approaches. This case report presents a unique instance of primary intimal sarcoma in the left atrium, underscoring the critical role of genomic profiling in guiding treatment. Initial genomic testing unveiled a somatic, active mutation in PDGFRβ (PDGFRβ N666K), accompanied by MDM2 and CDK4 amplifications. This discovery directed the treatment course toward pazopanib, a PDGFRβ inhibitor, following irradiation. The patient’s response was remarkable, with the therapeutic efficacy of pazopanib lasting for 16.3 months. However, the patient experienced a recurrence in the left atrium, where subsequent genomic analysis revealed the absence of the PDGFRβ N666K mutation and a significant reduction in PDGFRβ expression. This case report illustrates the complexities and evolving nature of cardiac intimal sarcoma treatment, emphasizing the potential of PDGFRβ signaling as a strategic target and highlighting the importance of adapting treatment pathways in response to genetic shifts.

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