AUTHOR=Nishiyama Akihiro , Sato Shigeki , Sakaguchi Hiroyuki , Kotani Hiroshi , Yamashita Kaname , Ohtsubo Koushiro , Mizuguchi Keishi , Ikeda Hiroko , Iino Kenji , Takemura Hirofumi , Takeuchi Shinji 

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

JOURNAL=Frontiers in Oncology

VOLUME=14

YEAR=2024

URL=https://www.frontiersin.org/journals/oncology/articles/10.3389/fonc.2024.1362347

DOI=10.3389/fonc.2024.1362347

ISSN=2234-943X

ABSTRACT=<p>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 <italic>PDGFRβ</italic> (<italic>PDGFRβ</italic> N666K), accompanied by <italic>MDM2</italic> and <italic>CDK4</italic> 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 <italic>PDGFRβ</italic> 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.</p>