Primary Cardiac Sarcoma Research Articles

72P Molecular characterization of advanced primary cardiac sarcomas

72P Molecular characterization of advanced primary cardiac sarcomas

Case series of rare primary cardiac sarcomas: A challenging histopathological diagnosis

Primary cardiac sarcomas are rare and histologically diverse, with single tumors able to demonstrate histological heterogeneity. Consequently, they are often misdiagnosed as other common cardiac tumors, such as cardiac myxoma or other metastatic malignancies. Incorrect diagnoses can result in incomplete surgeries, inadequate treatment regimens, and early recurrence. In our experience, based on the diverse histological and cytological characteristics of these tumors, immunostaining panels should be used early on to differentiate the exact tumor type. SMA, CD31, myogenin, ERG, and SOX10 panels are used to identify spindle-shaped or polymorphic cell patterns, while CK, LCA, S100, and desmin panels are used for round and monomorphic cell patterns. Using these panels can help identify the histological type of primary cardiac sarcomas, which is normally a challenge for pathologists.

A case report of an ischaemic stroke, caused by a primary cardiac intimal sarcoma

BackgroundIntimal sarcomas are an extremely rare type of primary cardiac malignancy. They most commonly present with symptoms of cardiac dysfunction. We present a case of intimal sarcoma identified without any cardiac signs or symptoms. Cardiac sarcomas historically carry a very poor prognosis.PresentationA 57-year-old man presented with a sudden onset of left limb weakness and disorientation. MRI brain identified an acute ischaemic stroke in the right anterior temporal lobe. Four months later, he presented again with transient left arm weakness. The patient had a normal cardiovascular examination and ECG. All other initial investigations for cryptogenic stroke were non-contributory. The patient did not initially get an echocardiogram. When this investigation was performed, after his second presentation, a large pedunculated mass was present in his left atrium. This was resected and identified histologically as a primary intimal sarcoma of his left atrium. The patient was treated with post-operative radiotherapy but declined chemotherapy. He recovered well post-operatively but subsequently passed away 14 months after diagnosis.ConclusionsIt is possible for primary cardiac malignancies to present with only symptoms of systemic emboli. For this reason, echocardiography is a crucial investigation in cases of cryptogenic stroke. Some stroke guidelines do not definitively support routine echocardiography. Primary intimal cardiac sarcoma is a very rare condition with a poor prognosis. The literature is limited to case reports and optimal management is with surgical resection where possible. The role of post operative radiotherapy and chemotherapy is uncertain.

Genomic Characterization of Rare Primary Cardiac Sarcoma Entities.

Primary cardiac sarcomas are considered rare malignant entities associated with poor prognosis. In fact, knowledge regarding their gene signature and possible treatments is still limited. In our study, whole-transcriptome sequencing on formalin-fixed paraffin-embedded (FFPE) samples from one cardiac osteosarcoma and one cardiac leiomyosarcoma was performed, to investigate their mutational profiles and to highlight differences and/or similarities to other cardiac histotypes. Both cases have been deeply detailed from a pathological point of view. The osteosarcoma sample presented mutations involving ATRX, ERCC5, and COL1A1, while the leiomyosarcoma case showed EXT2, DNM2, and PSIP1 alterations. Altered genes, along with the most differentially expressed genes in the leiomyosarcoma or osteosarcoma sample versus the cardiac angiosarcomas and intimal sarcomas (e.g., YAF2, PAK5, and CRABP1), appeared to be associated with cell growth, proliferation, apoptosis, and the repair of DNA damage, which are key mechanisms involved in tumorigenesis. Moreover, a distinct gene expression profile was detected in the osteosarcoma sample when compared to other cardiac sarcomas. For instance, WIF1, a marker of osteoblastic differentiation, was upregulated in our bone tumor. These findings pave the way for further studies on these entities, in order to identify targeted therapies and, therefore, improve patients' prognoses.

560 A RARE CASE OF PERICARDIAL SARCOMA

Abstract A 47 years old man, with no previous medical history, presented to the emergency department for dyspnea increased over the prior weeks. The echocardiographic evaluation revealed a severe pericardial effusion. Moreover, a round-shaped, indeterminate mass was detected into the pericardium, partially enhanced after injection SonoVue R contrast. After the pericardiocentesis, to exclude a severe dilatation of the coronary sinus, the patient underwent to a coronary angiography that showed a diffuse vascularization of the region of the mass. A CT-scan were then performed, and confirmed the presence of a well-defined mass placed near to the left atrial-ventricular junction into the pericardium. The magnetic resonance revealed a limited area of infiltration of the lesion into the myocardium. Finally the patient underwent surgical asportation, and the biopsy showed an high-grade sarcoma. Primary cardiac tumors are rare diseases and in the majority of the cases are of benign nature. Among malignant tumor of the heart sarcoma is the most common. Despite their rarity, malignant heart cancers are associated with high mortality and the prognosis is mostly influenced by the localization of the tumor, its biological aggressiveness, and the difficulty in obtaining surgical radicality. Cardiac sarcomas are most likely to arise from the right atrium followed by right ventricle and less often from the epicardium. In these cases, the asportation of the mass can be challenging, and the risk of myocardial narrowing can affect the area of resection. We reported a rare case of primary cardiac sarcoma mainly localized into the pericardium. Due to its position, the surgical asportation of the tumor was considered complete and our patient was discharge from the hospital without further complication and with a program of chemotherapy. At six months follow-up no recurrence of disease was observed.

Primary Cardiac Intimal Sarcoma with Extensive Left Atrial Involvement Treated with Cryoablation

Primary Cardiac Intimal Sarcoma with Extensive Left Atrial Involvement Treated with Cryoablation

Endobronchial Ultrasound-guided Transbronchial Needle Aspiration of Primary Cardiac Synovial Sarcoma of the Left Ventricle.

Endobronchial Ultrasound-guided Transbronchial Needle Aspiration of Primary Cardiac Synovial Sarcoma of the Left Ventricle.

A Rare Case of Primary Cardiac Undifferentiated Pleomorphic Sarcoma with Brain Metastases

Abstract Introduction/Objective Undifferentiated pleomorphic sarcomas are highly malignant undifferentiated fibroblastic tumors with an aggressive clinical course. Primary cardiac undifferentiated pleomorphic sarcomas are extremely rare (incidence < 0.1%) and most commonly occur in the left atrium. We report a case of a left atrial undifferentiated pleomorphic sarcoma that was thought to be a cardiac myxoma on imaging studies. Methods/Case Report A 22-year-old female without past medical or family history presented to the emergency department for a cerebrovascular accident. During clinical work up, transesophageal echocardiogram revealed a 3 cm mass attached to left atrial septum and a 1.8 cm mass attached to the interatrial septum with associated thrombus formation. The patient underwent surgical excision of the mass. Histological analysis revealed a tumor comprised of spindle and epithelioid cells with abundant nuclear atypia, mitotic figures, and necrosis. Extensive immunohistochemical analysis did not show specific lineage and the tumor was classified as an undifferentiated pleomorphic sarcoma. Two months after initial surgery, the patient presented with additional neurologic deficits and brain lesions. The pathologic findings in the brain biopsy specimen were identical to those in the cardiac specimen and consistent with metastatic undifferentiated pleomorphic sarcoma. This case provides insight into the metastatic behavior of high-grade cardiac sarcomas and their unusual clinical and radiographic presentations, including neurologic manifestations that are unique to the primary cardiac location of the tumor. Results (if a Case Study enter NA) NA Conclusion In conclusion, because the majority of cardiac undifferentiated pleomorphic sarcomas occur in the left atrium, these growths can be mistakenly diagnosed as benign myxoma preoperatively. This case provides insight into the metastatic behavior of high-grade cardiac sarcomas and their unusual clinical and radiographic presentations, including neurologic manifestations that are unique to the primary cardiac location of the tumor.

Recurrent stroke associated with brain metastasis due to a cardioembolism secondary to left atrial Sarcoma: Case presentation and review of the literature

Primary cardiac tumours are rare; 75% of primaries are benign mesenchymal, mostly myxomas. Primary sarcomas are the second most frequent type. Only a few hundred primary cardiac sarcomas have been reported, most diagnosed by autopsy. Sarcomas of the intima are polypoid mesenchymal masses anchored to a vessel or the cardiac wall. To our knowledge, there is a unique report of primary cardiac Sarcoma complicated with cerebral infarction and cerebral metastatic disease. Metastases show a preference for lung, liver, and mediastinum, but the brain is usually a sanctuary. We describe a female in her forty’s with recurrent stroke associated with a cardiac sarcoma, also presenting brain metastases, who died a year after starting the problem by pulmonary thromboembolism.

A Case of Surgical Treatment of Primary Cardiac Intimal Sarcoma in the Left Atrium

A Case of Surgical Treatment of Primary Cardiac Intimal Sarcoma in the Left Atrium

Heart transplantation for primary cardiac sarcoma

Primary cardiac sarcoma is a rapidly progressive, aggressive cardiac tumor that is very rare in the general population. Conservative treatment for this tumor is not very effective. The only effective treatment is radical surgical removal of the malignancy. However, if sarcoma removal cannot be performed, heart transplantation (HT) becomes the only treatment option. The median survival of heart recipients with preoperative cardiac sarcoma is 8.5 months. Globally, such operations are performed in a small number of cases. This paper presents the first experience of HT for a patient with primary cardiac sarcoma in the Russian Federation.

Primary Cardiac Angiosarcoma: Pericardial Erosion and Disseminated Metastasis in a Young Active Duty Man

Primary cardiac tumors are exceedingly rare with a reported prevalence of 0.0017% to 0.028%. Seventy-five percent of these tumors are benign. Of the primary malignant tumors, the most common are sarcomas. Primary cardiac sarcomas are often rapidly progressive and carry a very poor prognosis because of distant metastasis, erosion within the heart, and the development of circulatory obstruction. We describe an unfortunate case of primary cardiac angiosarcoma leading to the death of an otherwise healthy young man.

PET/CT morphology and cardiac conduction disorders help discriminate primary cardiac lymphoma from primary cardiac sarcoma

BackgroundPrimary cardiac lymphoma (PCL) and primary cardiac sarcoma (PCS) are similar in clinical presentation but differ in management and outcomes. We aim to explore the role of PET morphology and clinical characteristics in distinguishing PCL from PCS. MethodsPretreatment 18F-FDG PET/CT and contrast-enhanced CT were performed in PCL (n = 14) and PCS (n = 15) patients. Patient demographics, overall survival, and progression-free survival were reviewed. PET/CT morphological and metabolic features were extracted. Specifically, R_Kurtosis, a PET-morphology parameter reflecting the tumor expansion within the heart, was calculated. ResultsCompared with PCS, PCL occurred at an older age, resulted in more cardiac dysfunctions and arrhythmias, and showed higher glucometabolism (SUVmax, SUVpeak, SUVmean, MTV, and TLG). Curative treatments improved survival for PCL but not for PCS. Multivariable logistic regression identified R_Kurtosis (OR = 27.025, P = .007) and cardiac conduction disorders (OR = 37.732, P = .016) independently predictive of PCL, and classification and regression tree analysis stratified patients into three subgroups: R_Kurtosis ≥ 0.044 (probability of PCL 88.9%), R_Kurtosis < 0.044 with conduction disorders (80.0%), and R_Kurtosis < 0.044 without conduction disorders (13.3%). ConclusionPET-derived tumor expansion pattern (R_Kurtosis) and cardiac conduction disorders were helpful in distinguishing PCL from PCS, which might assist the clinical management.

Primary Cardiac Sarcoma of the Left Atrium, A Case Report and Literature Review

Primary malignant cardiac tumours are extremely rare. They count for a quarter of all possible cardiac tumors, and are mostly sarcomas. For a long time, their diagnosis was made post mortem, and they were only reported through autopsy series. Since then, diagnostic and therapeutic advances have been made, making clinical diagnosis of this entity more accessible ante mortem. Nevertheless, due to their rarity, cardiac sarcomas suffer from a lack of therapeutic guidelines. Their treatment is modelled on that of sarcomas developed in other organs of the body. We report an interesting case of a 74-year-old female patient operated on for an infiltrating sarcomatous tumour of the left atrium revealed by dyspnoea associated with cardiac palpitations. Thoracic angioscan and transthoracic echocardiography led to the diagnosis of a cardiac tumour, and the thoracic-abdominal-pelvic Computed Tomography (CT) scan did not reveal any other extracardiac lesions except for a minimal non-neoplastic bilateral pleural effusion. The patient underwent an incomplete surgical procedure with R2 resection followed by adjuvant chemotherapy with doxorubicin monotherapy. The evolution under this treatment was marked by a locoregional progression of the disease with further progression in the atria, mediastinum and dorsal spine after 4 courses. A second line of chemotherapy with Dacarbazine monotherapy was initiated, but the patient died shortly after receiving two courses of the new treatment.

Primary cardiac undifferentiated pleomorphic sarcoma

Primary cardiac undifferentiated pleomorphic sarcoma

Composite reconstruction of right ventricle and tricuspid valve for cardiac angiosarcoma

Composite reconstruction of right ventricle and tricuspid valve for cardiac angiosarcoma

Massive primary cardiac synovial sarcoma of the left atrium: a case report

BackgroundSynovial sarcomas are tumors typically located in the extremities and characterized by a t(X;18)(p11.2;q11.2) chromosomal translocation. With only around 100 cases reported in the literature, cardiac synovial sarcomas are extremely rare.Case presentationWe describe a case of a 59-year-old male who presented to his primary care physician with chest pain, palpitations, and dyspnea and was diagnosed with atrial flutter. Following atrial ablation, a transthoracic echocardiogram incidentally revealed a 5.5 × 5.0 cm heterogeneous mass. Further workup found a heterogeneous mass with mild fluorodeoxyglucose uptake that was abutting the left atrium, left ventricle, and left pulmonary veins. The tumor was resected and confirmed to be a monophasic synovial sarcoma with a SS18-SSX gene fusion. Four months post-operative, the patient had recovered well from surgery. He is currently undergoing concurrent radiation and chemotherapy.ConclusionsDue to the rarity of this tumor, guidelines on diagnosis and treatment come only from case reports. Our case describes a primary cardiac synovial sarcoma arising from the left atrium in the atrioventricular groove in which diagnosis of atrial flutter preceded detection of the mass.

Primary cardiac undifferentiated pleomorphic sarcoma is associated with TP53 mutation during lack of MDM2 amplification, and targeted sequencing analysis reveals potentially actionable targets

Cardiac undifferentiated pleomorphic sarcoma (UPS) is a rare malignancy. Several studies have revealed frequent MDM2, CDK4, PDFGRA, and KIT amplifications and CDKN2A and CDKN2B deletions. Cases lacking the above copy number alterations may harbor alternative driver mutations; however, little is known about such occurrences. This study was conducted to gain further insights into the molecular features of cardiac UPS using targeted sequencing of 560 cancer-related genes, and fluorescence in situ hybridization and immunohistochemistry of MDM2, CDK4, CDKN2A, TP53, and RB1 in 9 cardiac UPS cases. TP53 mutation or CDKN2A deletion was found in cases lacking MDM2 amplification. Further, p53 overexpression was detected in the case with TP53 mutation, while p16 expression was completely lost in the case with CDKN2A homozygous deletion. p16 overexpression was found in cases with MDM2 and CDK4 amplification but without CDKN2A deletion. Immunohistochemistry of MDM2, CDK4, p53, and p16 is expected to be preliminarily used for gene status analysis. As cardiac UPS and intimal sarcomas are merging into a single spectrum, mutation data for 3 cardiac UPS and 9 intimal sarcomas from the literature, as well as data for 5 cardiac UPS in our study were evaluated, and known recurrently mutated cancer driver genes, including PDGFRB, TP53, ALK, PTCH1, RET, ERBB4, JAK3, GATA1, PIK3CG, and RARA, were identified. Several new potentially actionable mutations, including those in RARA, ALK, PTCH1, RET, ROS1, ABL1, and MET, were also found. These findings improve the molecular understanding of this rare malignancy and are expected to provide a basis for developing precision therapeutics for cardiac UPS and intimal sarcomas.

Primary cardiac sarcomas: Treatment strategies

ObjectiveOur multidisciplinary cardiac tumor team now has an experience of operating on 122 cases of primary cardiac sarcoma over a 23-year period. The purpose of this study is to present our short- and long-term outcomes for cardiac sarcoma. MethodsWe performed a retrospective review of a prospectively collected Institutional Review Board–approved cardiac tumor database for cardiac sarcoma. Patient characteristics, surgical factors, and patient outcomes were analyzed. Perioperative data were collected from direct patient communication and all available medical records. The primary end point was all-cause mortality at 1, 3, and 5 years from the time of our surgery and 1, 3, and 5 years from the initial diagnosis. The secondary end point was all-cause mortality between the first and second halves of the study. ResultsFrom October 1998 to April 2021, we operated on 122 patients with a primary cardiac sarcoma. The mean age was 45.3 years old, and 52.5% were male. Tumors were most frequently found in the left atrium (40.2%) and right atrium (32.0%). The most common type of tumor histologically was an angiosarcoma (38.5%), followed by high-grade sarcoma (14.8%). Survival from initial diagnosis at 1, 3, and 5 years was 88.4%, 43.15%, and 27.8%, respectively. Survival from surgery at our institution at 1 and 3 years was 57.1% and 24.5%, respectively. When comparing outcomes from different time periods, we found no significant difference in survival between the previous era (1998-2011) and the current era (2011-2021). ConclusionsManagement of these complex patients can show reasonable outcomes in centers with a multidisciplinary cardiac tumor team. Mortality has not improved with time and is likely related to the systemic nature of this disease.

Salvage Radiosurgery for Recurrent Cardiac Sarcoma: A Case Report

<h3>Purpose/Objective(s)</h3> Primary cardiac sarcoma is a rare malignant tumor that arises from the cardiac myocardium. Surgical resection is the standard of care and median survival after a R0 resection is typically 6 to 12 months. However, after local recurrence, patients are frequently inoperable with a poor prognosis. The role of salvage chemotherapy and radiation is not well defined. A few case reports have described local control for up to eight months after hypo-fractionated radiosurgery. <h3>Materials/Methods</h3> A 53 year old female presented in October 2017 with acute congestive heart failure and underwent complete surgical resection of undifferentiated pleomorphic sarcoma of the left atrium followed by 6 cycles of adjuvant doxorubicin/hydroxydaunorubicin and ifosfamide. An MRI scan demonstrated an asymptomatic, 24 mm, recurrent atrial mass. The patient elected to proceed with salvage frameless robotic radiosurgery system stereotactic body radiosurgery. We fused CT, MRI, and PET imaging modalities in order to determine the target volume. The tumor was treated with a dose of 7200 cGy in 15 fractions to the 84% isodose line utilizing spine tracking with 4D CT to determine the ITV. Fractionation was used in order to achieve acceptable maximal doses to the main stem bronchus and esophagus. Repeat cardiac MRI at four weeks showed in-field local progression with greater protrusion into the left atrium. The tumor volume doubled in size with invasion of the left ventricle. The patient elected to proceed with salvage frameless robotic radiosurgery system treatment. 2500 cGy in 1 fraction was prescribed to the 76% isodose line in June of 2019. <h3>Results</h3> She tolerated treatment well without any acute toxicity. The patient was subsequently treated with a variety of chemotherapy regimens including TKIs and immunotherapy. Unfortunately, the patient relapsed in December with metastases in the spine and the pelvis. She underwent palliative radiation therapy to multiple bony sites with a partial response. She resumed chemotherapy treatment with TKIs but passed away in June 2020 due to septic shock without evidence of local failure. <h3>Conclusion</h3> Fractionated SBRT was ineffective at controlling our patient's cardiac sarcoma. Our patient demonstrated local control of disease at twelve months after salvage 25 Gy in one fraction radiosurgery without any evidence of cardiac toxicity. High dose single fraction radiosurgery is a reasonable palliative option for long term local control of unresectable cardiac sarcomas.