Successful multidisciplinary clinical approach and molecular characterization by whole transcriptome sequencing of a
Maristella Saponara1, Valentina Indio2, Carmine Pizzi3
1Department of Specialized, Experimental and Diagnostic Medicine, Medical Oncology Unit, Sant'Orsola-Malpighi Hospital, University of Bologna, Bologna 40138, Italy. maristella.saponara@unibo.it.
Background:
Cardiac tumors are rare and complex entities. Surgery represents the cornerstone of therapy, while the role of adjuvant treatment remains unclear and, in case of relapse or metastatic disease, the prognosis is very poor. Lack of prospective, randomized clinical trials hinders the generation of high level evidence for the optimal diagnostic workup and multimodal treatment of cardiac sarcomas. Herein, we describe the multidisciplinary clinical management and molecular characterization of a rare case of cardiac myxofibrosarcoma in an elderly woman.
Case Summary:
A 73-year-old woman presented signs and symptoms of acute left-sided heart failure. Imaging examination revealed a large, left atrial mass. With suspicion of a myxoma, she underwent surgery, and symptoms were promptly relieved. Histology showed a cardiac myxofibrosarcoma, a rare histotype of cardiac sarcoma. Eight months later, disease unfortunately relapsed, and after a multidisciplinary discussion, a chemotherapy with doxorubicin and then gemcitabine was started, achieving partial radiologic and complete metabolic response, which was maintained up to 2 years and is still present. This report is focused on the entire clinical path of our patient from diagnosis to follow-up, through surgery and strategies adopted at relapse. Moreover, due to their rarity, very little is known about the molecular landscape of myxofibrosarcomas. Thus, we also performed and described preliminary genome analysis of the tumor tissue to get further insight on mechanisms involved in tumor growth, and to possibly unveil new clinically actionable targets.
Conclusion:
We report a case of cardiac myxofibrosarcoma that achieved a very good prognosis due to an integrated surgical, cardiac and oncologic treatment strategy.
Insights
This case study highlights a rare cardiac myxofibrosarcoma successfully treated with surgery and chemotherapy. An integrated approach improved prognosis for this challenging cardiac sarcoma.
Area of Science:
- Cardiology
- Oncology
- Surgical Pathology
Background:
- Cardiac tumors, particularly sarcomas, are rare and present diagnostic and therapeutic challenges.
- Optimal multimodal treatment strategies for cardiac sarcomas lack high-level evidence due to limited clinical trials.
- This report details the management of a rare cardiac myxofibrosarcoma.
Observation:
- A 73-year-old woman presented with acute left-sided heart failure due to a large left atrial mass.
- Initial surgery for suspected myxoma revealed cardiac myxofibrosarcoma.
- The patient experienced disease relapse eight months post-surgery.
Findings:
- Chemotherapy with doxorubicin and gemcitabine achieved partial radiologic and complete metabolic response upon relapse.
- The patient maintained response for up to 2 years.
- Preliminary genomic analysis was performed to explore tumor growth mechanisms and potential therapeutic targets.
Implications:
- An integrated surgical and oncologic treatment strategy can lead to a favorable prognosis in cardiac myxofibrosarcoma.
- Multidisciplinary management is crucial for rare cardiac tumors.
- Further molecular characterization may identify novel therapeutic targets for cardiac sarcomas.
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