Diagnosis and Treatment of Primary Cardiac Pleomorphic Undifferentiated Sarcoma: A Case Report
Jianing Zhang*
Department of Hematology, Shandong Cancer Hospital and Institute, Shandong First Medical University and Shandong Academy of Medical Sciences, Jinan, Shandong, 250117, China
*Corresponding author
*Jianing Zhang, Department of Hematology, Shandong Cancer Hospital and Institute, Shandong First Medical University and Shandong Academy of Medical Sciences, Jinan, Shandong, 250117, China
DOI: 10.55920/JCRMHS.2025.10.001435
Abstract
Cardiac tumor is a rare heart disease. The incidence of autopsy is between 0.002-0.3 %. About three-quarters of the primary lesions are benign, and the remaining one-quarter is malignant. Sarcoma is the most common malignant lesion. [1] Undifferentiated pleomorphic sarcoma is an extremely rare and aggressive primary cardiac tumor. Most of them grow rapidly and die rapidly. Different data show that the median survival time is usually between 6 and 12 months according to different sources. We are presenting a case of primary cardiac undifferentiated pleomorphic sarcoma. The progression-free survival after surgery was 23 months, far exceeding the existing data. Because the disease is extremely rare, the treatment experience is insufficient. The treatment experience of this case can be used for peer reference.
Keywords: Case Report, Cardiac Tumor, Primary Cardiac Pleomorphic Undifferentiated Sarcoma, Comprehensive Treatment.
Case presentation
Patient basic information
- Gender / Age: Female, 46 years old.
- Complaint: Repeated episodes of chest tightness and suffocation after fatigue, with cough for 1 month.
- Treatment time: March 3, 2022.
Diagnosis and therapeutic
- Diagnostic examination: Cardiac ultrasound showed left atrial mass, with secondary severe mitral stenosis and mild to moderate regurgitation. Left atrial enlargement; mild to moderate tricuspid regurgitation; moderate pulmonary hypertension; mild pulmonary regurgitation; a small amount of pericardial effusion.
- The date and process of the operation: On March 4, 2022, cardiac lesion ( left atrial tumor ) resection, mitral valvuloplasty, and tricuspid valvuloplasty were performed under general anesthesia with cardiopulmonary bypass ( CPB ).
- Postoperative pathological:( Atrial mass ) Under the microscope, the tumor cells were abundant, the nucleus was deeply stained, and the mitotic image was easy to see. Malignant mesenchymal sarcoma ( 5.5 × 3.5 × 2cm ) was considered. Immunohistochemistry : ( atrial mass ) tumor cells : CK7, CKpan, SMA, Myogenin, MyoD1, ERG, CD31 were negative, CD68 ( + / - ). Combined with morphological and immunohistochemical results, it was diagnosed as pleomorphic undifferentiated sarcoma.
- Genetic testing: The CDK4 gene was amplified, and the mutation multiple was 10.6 times; The ERBB2 gene was amplified, with a variation of 31.5 times.
- Detection of Programmed cell death 1 ligand 1 (PD-L1): CPS about 30-40.
Subsequent treatment and monitoring
- Chemotherapy and immunotherapy: 6 cycles of ifosfamide + epirubicin chemotherapy combined with Tislelizumab immunotherapy.
- Immunization maintenance therapy: 30 September 2022, 1 cycle of Tislelizumab immunotherapy
Postoperative radiotherapy
- From October 10, 2022, to November 11, 2022, local radiotherapy was given to the postoperative tumor bed.
- Positioning method: supine position, fixed position with large mask, dual positioning of enhanced CT and plain MR, and 4D-CT scan.
- Target delineation: The tumor bed after delineation was CTV, which was extended 7mm to PTV.
- Prescription dose: DT 50Gy / 25 times / 5 weeks
Postoperative reexamination
- Regular postoperative imaging examination showed stable disease (SD).
- On February 10, 2023, Tislelizumab was given for one cycle of immune maintenance therapy.
- At the reexamination on March 9, 2023, the patient's high-sensitivity troponin T was as high as 137.30 pg/ml, and BNP was 484.30 pg/ml, suggesting myocardial injury. It is recommended that patients visit the general hospital.
- The patient was followed up on May 10, 2023. PET / CT examination showed postoperative changes in cardiac sarcoma, and troponin T returned to normal.
- No further treatment was followed up every 4 months. Imaging evaluation showed stable disease (SD).
Disease recurrence and retreatment
- Recurrence:
- On January 29, 2024, CT reexamination revealed a patchy low-density shadow in the left upper pulmonary vein and the lower pulmonary vein near the left atrium, and a patchy shadow in the right ventricle, which was suspected of recurrence.
- On February 6, 2024, PET / CT of Fuwai Hospital, Chinese Academy of Medical Sciences showed low-density shadows at the entrance of the left superior and inferior pulmonary veins and right ventricle.)
- Reoperation and postoperative pathology:
- On February 23, 2024, cardiac tumor resection, mitral valvuloplasty, and tricuspid valvuloplasty were performed again under general anesthesia, hypothermia, and extracorporeal circulation.
- Postoperative pathology: 1. ( right ventricle, left atrial intima, pulmonary vein intima ) Myxoid fibrosarcoma ( medium grade ), tumor invasion of the pulmonary vein media and adjacent to the margin; 2. 2. ( Mitral valve ) No tumor was found
- Surgical tissue gene detection: ATR: nonsense mutation in exon 8, p. S581; cDK4: gene amplification, variation factor of 3.3 times; mDM2: gene amplification, variation multiple 4.2 times; mYC: gene amplification, variation ratio of 2.5 times; tMB = 4.41muts / Mb, MSS
- Postoperative uncontrolled:
- On April 18, 2024, PET-CT and cardiac B-ultrasound showed right ventricular recurrence, pericardial metastasis, and left adrenal metastasis.
Follow-up treatment and curative effect
- Drug treatment:
- According to the results of the first postoperative genetic test, combined with the general condition of the patient.
- Systemic treatment with DS8201 ( 300 mg ) has been completed for 4 cycles.
- Curative effect
- Before treatment, B-ultrasound showed that the size of the right ventricular solid mass was 75 × 35 mm.
- After 2 cycles, B-ultrasound showed a solid mass of 42 × 58 × 38 mm in the right ventricle.
- Before the fourth cycle of treatment, B-ultrasound showed that the right ventricular lesion was significantly smaller than before, 64 × 23 × 16 mm.
- Efficacy evaluation: partial remission ( PR )
Discussions and Conclusions
Undifferentiated pleomorphic sarcoma is a soft tissue sarcoma originating from mesenchymal tissue, also known as malignant fibrous histiocytoma. It mainly occurs in the soft tissue of the extremities, followed by the peritoneum. Undifferentiated pleomorphic sarcoma is an aggressive and locally aggressive tumor that often cannot be completely surgically removed, resulting in poor prognosis and low survival rate. [ 2 ] Primary cardiac sarcoma is a very rare undifferentiated pleomorphic sarcoma of the heart. Most of them grow very fast and can cause death by extensively infiltrating the myocardium, blocking cardiac blood flow, and/or distant metastasis. Even if completely resected, most patients will relapse quickly. The 32-year experience of the Mayo Clinic has shown that the most common histological subtype of cardiac sarcoma is angiosarcoma ( 41 % ). The median survival time of patients with complete resection is 17 months, while the median survival time of patients with incomplete resection is only 6 months.
Due to the poor prognosis of primary cardiac sarcoma, different treatment attempts are being made. Postoperative adjuvant radiotherapy can significantly improve the local control rate of high-grade soft tissue sarcoma compared with surgery alone. For patients with soft tissue tumors with insufficient margins, the ' CSCO Guidelines for the Diagnosis and Treatment of Bone and Soft Tissue Tumors 2023 ' recommends postoperative radiotherapy. Postoperative adjuvant radiotherapy can effectively control the local recurrence rate, but there is no statistical difference in the long-term survival of patients. In an article published in 2020, Chiara Lestuzzi highlighted the need for a multidisciplinary approach to the treatment of cardiac tumors. [ 3 ] A study from the Cleveland Clinic analyzed 42 patients with cardiac sarcoma who received treatment from 1988 to 2013. The study showed that combined therapy ( any combination of surgery, radiotherapy, and chemotherapy ) significantly improved survival compared to surgery alone, radiotherapy, or chemotherapy alone. [ 4 ]
This case was a patient with cardiac pleomorphic undifferentiated sarcoma. According to the results of PD-L1 detection, the systemic regimen was used for immune maintenance therapy after 6 cycles of immune combined chemotherapy, and precise radiotherapy was given to the tumor bed after the operation. Although the immune maintenance therapy was terminated due to severe cardiotoxicity, the disease-free survival time of 23 months was still obtained after the first operation. Reoperation was performed after recurrence, and the tumor grew rapidly without postoperative control. The patient's previous gene test results were reviewed. Combined with the patient's physical condition, DS-8201 systemic treatment was selected to obtain the effect of tumor reduction again. At present, the patient is still alive, and OS has been more than 28 months.
The combined treatment of surgery, immune drugs, radiotherapy, chemotherapy and ADC drugs introduced in this paper may become an effective and optional treatment for primary cardiac sarcoma.
Declarations
Ethical Approval: This study was approved by the Ethics Committee of Shandong Tumor Hospital. The committee members and relevant guidelines followed are as follows. In addition, statements on consent to participate and consent to publish will be provided when applicable.
Funding: This research did not receive any funding support.
Availability of data and materials: The datasets used in this study are available from the corresponding author upon request. The data will be provided in accordance with the journal's policies and ethical guidelines.
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