case_images: PMC11026546_01
case_images: (A) Transthoracic echocardiography image of the primary lesion in the left atrium. (B) Perioperative image of the primary lesion in the left atrium. (C) The primary lesion shows the proliferation of spindle cells with a high nuclear-cytoplasmic ratio, magnification: x200. (D) Tumor cells in the primary lesion showed positive immunoreactivity for MDM2 (magnification: x200). (E) Fluorescence in situ hybridization analysis revealed the amplification of MDM2. Signals for MDM2 are presented in red, while those of CEP 12 are shown in green. (F) The left tailor muscle metastatic lesion consists of spindle cells and resembles the primary lesion (magnification: x200). (G) The tumor cells in the metastatic lesion showed positive immunoreactivity for MDM2, magnification: x200. (H) Illustration of PDGFRbeta
  N666K using a next-generation sequencing platform as visualized in the Integrative Genomics Viewer.
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case_images: Transthoracic echocardiography revealed a 5-cm-sized mass in the left atrium, possibly adhering to the mitral valve leaflets ( Figure 1A ). Emergent surgical excision of the mass was performed ( Figure 1B ), and pathological examination confirmed the diagnosis of intimal sarcoma in the left atrium, characterized by MDM2 amplification and overexpression ( Figures 1C-E ). Histological analysis confirmed the left tailor muscle tumor as a metastatic intimal sarcoma, also displaying MDM2 overexpression ( Figures 1F, G ). Genomic testing of the left tail muscle metastasis revealed the presence of PDGFRbeta N666K mutation, along with the amplification of MDM2 and CDK4, both located on the long arm of chromosome 12 ( Figure 1H ). Figure 1A ). Further genomic testing on the left atrium recurrence sample ( Table 1 ) resulted in the establishment of a patient-derived cell line from this sample, after obtaining the ethical review approval and patient consent ( Supplementary Figure 1B ). The recurrent lesion lacked the PDGFRbeta N666K mutation and showed minimal PDGFRbeta expression, in contrast to the clear PDGFRbeta positivity observed in the primary and left tail muscle metastasis lesions ( Supplementary Figures 2A-C ).
case_images: The clinical course from the initial operation to the local recurrence in the left atrium and the response of metastatic lesions to radiation or pazopanib. *indicated the external irradiation delivered to the left tailor muscle lesion. **indicated the external irradiation delivered to the sternum lesion. The yellow arrowheads show the target lesions.
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case_images: For non-brain metastatic lesions, the relapse-free survival period was 619 days ( Figure 2 ). Table 1 ) resulted in the establishment of a patient-derived cell line from this sample, after obtaining the ethical review approval and patient consent ( Supplementary Figure 1B ). The recurrent lesion lacked the PDGFRbeta N666K mutation and showed minimal PDGFRbeta expression, in contrast to the clear PDGFRbeta positivity observed in the primary and left tail muscle metastasis lesions ( Supplementary Figures 2A-C ).