Abstract
BACKGROUND: Primary cardiac intimal sarcoma is an exceptionally rare and aggressive malignancy, representing a small subset of primary cardiac tumors. Owing to its rapid progression and limited treatment options, the median survival is typically less than 1 year. We report a rare case of primary cardiac intimal sarcoma with MDM2 amplification, in which the patient achieved survival exceeding 1 year through a multimodal treatment approach, offering valuable insights into the management of this highly lethal disease. CASE PRESENTATION: A 48-year-old previously healthy Han Chinese woman presented with progressive chest tightness, dyspnea, and hemoptysis. Imaging revealed a large, irregular mass (64 × 41 mm) in the left atrium, partially prolapsing into the left ventricle. Elevated serum tumor markers were noted. The patient underwent surgical resection under cardiopulmonary bypass, and histopathological examination confirmed intimal sarcoma with MDM2 gene amplification. The diagnosis is: primary cardiac endosarcoma. Despite postoperative recurrence within the left ventricle, sequential therapies were implemented, including liposomal doxorubicin, oral anlotinib, and combined chemotherapy with gemcitabine and docetaxel plus anlotinib. The tumor initially showed progression but subsequently demonstrated partial regression following therapy adjustments. The patient has remained clinically stable for over 1 year post-diagnosis under ongoing treatment. CONCLUSION: This case highlights the extreme rarity and poor prognosis of primary cardiac intimal sarcoma and demonstrates that combining surgery, chemotherapy, and targeted therapy may contribute to prolonged survival. These findings suggest the potential role of anlotinib-based therapy for managing MDM2-amplified cardiac intimal sarcoma and warrant further clinical investigation.