Cardiac Angiosarcomas Research Articles

Cardiac Angiosarcoma with Unusual Cytologic Features Causing Cardiac Tamponade in a Young Adult Patient

Abstract Introduction/Objective Cardiac angiosarcoma is a rare endothelial malignancy with poor prognosis, frequent metastasis, and short median survival of only a few months. The disease has a wide age spectrum and can occur in young adult patients. The cytological diagnosis of cardiac angiosarcomas is challenging as cases are rare and its cytology is not extensively described or reported in literature. Here, we describe a rare case of cardiac angiosarcoma with unusual cytologic features. Methods/Case Report Our patient is a 30 year old male presenting with three days of worsening dyspnea and palpitations and was discovered on ultrasound to have large pericardial effusion compressing the right ventricle and causing cardiac tamponade. CT/MRI imaging revealed a 4.5 x 4.3 x 2.6 cm mass inside the right ventricle with extra- cardiac invasion through the pericardium and into the anterior mediastinum. Pericardiocentesis yielded 1.5 liters of hemorrhagic, brown, pericardial fluid with elevated LDH and protein levels. Cytology of the pericardial fluid revealed numerous tumor cells occurring singly or in monolayered, acinar clusters or cohesive spheres containing amorphous, eosinophilic cores made of collagen as evidenced on trichrome stain. The tumor cells possessed hyperchromatic, irregular, variably sized nuclei, prominent nucleoli, and cytoplasmic vacuoles. The tumor cells were positive for vimentin, CD31, and CD34, and showed high Ki67 proliferation index > 50%. A catheter-mediated biopsy of the right ventricular mass revealed spindled and epithelioid tumor cells strongly positive for CD31, CD34, and vimentin, focally positive for Factor VIII and AE1/AE3, and showing high Ki67 proliferation index of roughly 50%. The cytological, histological, and immunohistochemical findings were most consistent with cardiac angiosarcoma as the diagnosis. The patient eventually developed worsening chronic left chest pain and expired from cardiac arrest six months after his diagnosis. Results (if a Case Study enter NA) NA Conclusion We report a rare case of cardiac angiosarcoma with unusual cytologic features, manifesting as acinar clusters and cohesive spheres with collagenous cores that are not typical of malignant endothelial neoplasms. Currently there are no effective, standardized therapies that can significantly prolong survival for this malignancy, and treatment is often palliative. The cytological diagnosis of cardiac angiosarcoma is challenging given the rarity of this disease and the paucity of literature describing its cytology.

Right atrial angiosarcoma presenting with pseudoaneurysm and rupture: a case report

Cardiac sarcomas are the predominant type of malignant primary cardiac tumors, especially in cases where the patients are <50 years of age and have a poor prognosis, with a 5-year survival rate of less than 15%. Cardiac angiosarcomas are a common type of cardiac sarcoma. Cardiac angiosarcoma is a highly aggressive tumour, with approximately 75% of the cases originating in the right atrium, and has a higher incidence in males than in females. The present case report describes a 31-year-old woman who was initially suspected of having tuberculous pericarditis and was treated with anti-tuberculous medication. However, cardiac imaging analysis revealed a right atrial pseudoaneurysm with spontaneous rupture of the lateral right atrium. The patient underwent surgical exploration, in which a large mass infiltrating the right atrium, right ventricle, and right pleura with the ruptured right atrium was discovered. Mass excision and right atrial repair were performed, and the patient was admitted to the intensive care unit; however, she subsequently succumbed to her illness. Histopathological examination confirmed the diagnosis of cardiac angiosarcoma. Primary cardiac angiosarcoma is a rare and aggressive tumor that is difficult to diagnose. Most patients have systemic metastasis and a poor prognosis at the time of presentation. A confirmatory diagnosis was made after sample collection, highlighting the need to improve diagnostic and therapeutic methods for this disease.

Unusual presentation and delayed diagnosis of cardiac angiosarcoma

BackgroundPrimary cardiac angiosarcomas are very rare and present aggressively with high rates of metastasis. Given the poor prognosis, particularly once disease has spread, early diagnosis and multidisciplinary treatment is essential.Case presentationWe present the case of a 46-year-old male who presented with chest pain, intermittent fevers, and dyspnea. Workup with computed tomography scan and transesophageal echocardiography demonstrated a right atrial pseudoaneurysm. Given the concern for rupture, the patient was taken to the operating room, where resection of the pseudoaneurysm and repair using a bovine pericardial patch was performed. Histopathology report initially demonstrated perivascular lymphocyte infiltrate. Six weeks later, the patient represented with chest pain and new word finding difficulty. Workup revealed multiple solid lung, pericardial, brain, and bone nodules. Eventual biopsy of a cardiophrenic nodule demonstrated angiosarcoma, and rereview of the original pathology slides confirmed the diagnosis of primary cardiac angiosarcoma.ConclusionsPrimary cardiac angiosarcomas are often misdiagnosed given the rarity of these tumors, but early diagnosis and initiation of treatment is essential. The unique presentation of our case demonstrates that clinical suspicion for cardiac angiosarcoma should be maintained for spontaneous pseudoaneurysm originating from the right atrium.

Successful surgical treatment for primary cardiac angiosarcoma: a case report

BackgroundPrimary cardiac angiosarcomas are extremely rare and their prognosis is poor. Surgical resection is the first-line treatment; however, no clear standard of care has been clearly established because of the rarity of these tumors.Case presentationA 61-year-old man who had presented with dyspnea on exertion was referred to our hospital. Contrast-enhanced computed tomography revealed massive pericardial effusion and a 40-mm enhanced mass adherent to the anterior wall of the right atrium and involving the right coronary artery. Having diagnosed the mass as a cardiac tumor, we resected the mass under the guidance of epi-cardiac echocardiography guidance, which showed continuity between the tumor and the right atrium, reconstructed the right atrial free wall with a bovine pericardial patch, and performed coronary artery bypass grafting to the right coronary artery using the great saphenous vein. The right atrial wall was resected with adequate tumor-free margin. On the right ventricular side, we resected the right atrial wall 1 cm from the tumor, 2 cm from the atrioventricular groove. Because hemodynamic deterioration occurred after aortic declamping, intra-aortic balloon pumping and veno-arterial extracorporeal membrane oxygenation were instituted. Postoperatively, circulatory support devices were removed safely, and the patient was discharged on the 25th postoperative day. Histopathological examination of the surgical specimens resulted in a diagnosis of angiosarcoma, with positive surgical margins. Chemotherapy and radiotherapy (69 Gy in 30 fractions) were therefore initiated after discharge. To date, the patient has been alive and well with no recurrence of tumor for 4 years and 10 months since surgery.DiscussionThis case study suggests the usefulness of multimodality treatment comprising surgical resection and adjuvant therapy, for cardiac angiosarcoma.

Clinical characteristics, management, and outcomes of patients with primary cardiac angiosarcoma: A systematic review.

Primary cardiac angiosarcomas (PCA) are highly aggressive malignant heart tumors. Previous reports have shown a poor prognosis regardless of management, and no consensus or guidelines exist. It is necessary to clarify this information since patients with PCA have a short survival. Therefore, we aimed to systematically review clinical manifestations, management, and outcomes. We systematically searched in PubMed, Scopus, Web of Science, and EMBASE. We intended to include cross-sectional studies, case-control studies, cohort studies, and case series that reported clinical characteristics, management, and outcomes of patients with PCA. As a methodological approach, we used the Joanna Briggs Institute Critical Appraisal Checklist for Case Series and the Newcastle-Ottawa Scale for cohorts. We included six studies (five case series, one cohort). The mean/median age ranged from 39 to 48.9 years. Male sex was predominant. The most frequent manifestations were dyspnea (range: 50%-80%), pericardial effusion (29% & 56%), and chest pain (10%-39%). The mean tumor size ranged from 5.8 to 7.2 cm, with the majority of these localized in the right atrium (70-100%). The most common locations of metastasis were the lung (20%-55.6%), liver (10%-22.2%), and bone (10%-20%). Resection (22.9%-94%), and chemotherapy as neoadjuvant or adjuvant (30%-100%) were the most commonly used methods of treatment. Mortality ranged from 64.7% to 100%. PCA often presents late in its course and usually results in poor prognosis. We strongly recommend performing multi-institutional prospective cohorts to better study disease course and treatments to develop consensus, algorithms, and guidelines for this type of sarcoma.

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.

Diagnostic challenges in primary cardiac lymphoma, the opportunity of 18F-FDG PET/CT integrated with contrast-enhanced CT

BackgroundThe purpose of this study was to retrospectively evaluate the value of 18F-FDG PET/CT integrated with contrast-enhanced CT (CECT) in the differential diagnosis of primary cardiac lymphomas (PCLs) and primary cardiac angiosarcomas (PCAs). MethodsClinical and imaging data of patients with PCLs and PCAs were collected. All patients underwent preoperative 18F-FDG PET/CT and thoracic CECT. The enhancement pattern and tumor morphology were analyzed using CECT images. The intensity- and volume-based PET parameters of cardiac lesions were analyzed. The performance characteristics of all parameters were assessed. ResultsNine patients with PCL and eight patients with PCA were analyzed. There were significant differences in SUVmax (t = 3.790, P = .002), SUVmean (t = 4.273, P = .001), metabolic tumor volume (U = 13.00, P = .027), tumor-to-liver ratio (U = 10.00, P = .011), and total lesion glycolysis (U = 4.0, P = .001) between PCLs and PC18As. There were significant differences in the enhancement pattern of tumors (P = .002) and tumor morphology (P = .015). The combination of F-FDG PET/CT and CECT improved the diagnostic accuracy, and the combination cutoff (SUVmean > 5.17) could reach 100%, but the difference was not statistically significant (P > .05). ConclusionThe intensity- and volume-based PET parameters of PCL were significantly higher than those of PCA. The enhancement pattern and tumor morphology were also different. According to these characteristics, the two most common types of primary cardiac malignancies can be differentiated.

Diagnostic Approach for the Primary Cardiac Angiosarcoma – A Case Report

Background: We report a 25-year-old male who presented to an outside institution with progressive dyspnoea. He had increased jugular venous pressure and muffled heart sounds, suggesting a pericardial tamponade. A diagnosis of a cardiac angiosarcoma was put forward. Primary cardiac tumours are rare, and patients can present with constitutional symptoms, posing a diagnostic challenge. The objective of this report is to suggest a diagnostic standard for early recognition of these fatal tumours. Case presentation: A chest radiograph demonstrated an enlarged cardiac contour and signs of pericardial tamponade. Pericardiocentesis was performed, complicated by a pneumopericardium and the pericardial fluid was haemorrhagic and exudative. Echocardiography confirmed a right atrial mass featured by heterogeneous enhancement in subsequent chest computed tomography and magnetic resonance imaging concerning a sarcoma. No metastatic lesions were found. The tumour was excised completely, and the following echocardiogram indicated normokinetic biventricular function. Histological examination of the tumour cells confirmed the presence of a cardiac angiosarcoma. Patient was scheduled for combined chemotherapy following discharge. Conclusion: Primary cardiac angiosarcomas are difficult to diagnose due to the rarity of the tumour as well as the non-specific symptoms. An early diagnosis may help improve prognosis which emphasizes the importance of establishing a standard diagnostic protocol for such tumours.

Surgical and multitreatment approach in a case of primary cardiac angiosarcoma: A case report.

Introduction and importancePrimary cardiac angiosarcoma is extremely rare, and its prognosis remains poor, with a mean life expectancy of only a few months. Here, we report a case of primary cardiac angiosarcoma.Case presentationA 49-year-old Japanese woman with a month-long history of dyspnea was admitted to our hospital for pericardial effusion. Chest computed tomography and cardiac magnetic resonance imaging showed a mass in the right atrium. The patient underwent surgical resection of the tumor, and the pathological diagnosis was angiosarcoma. The patient received radiotherapy after surgery. Six months following surgery, she underwent chemotherapy following the diagnosis of lung metastasis. The patient died 18 months after the initial diagnosis.Clinical discussionCardiac angiosarcoma is rare and difficult to diagnose early because it is associated with few symptoms. Moreover, there are currently no established guidelines for the treatment of this disease because of its rarity and sparse descriptive literature Therefore, multidisciplinary therapies should be considered, including surgery, radiotherapy, and chemotherapy.ConclusionThere is no standard treatment for cardiac angiosarcoma, but surgical resection, chemotherapy, radiation therapy, or a combination of these therapies may be useful.

A mouse model for Li-Fraumeni-Like Syndrome with cardiac angiosarcomas associated to POT1 mutations.

The shelterin protein POT1 has been found mutated in many different familial and sporadic cancers, however, no mouse models to understand the pathobiology of these mutations have been developed so far. To address the molecular mechanisms underlying the tumorigenic effects of POT1 mutant proteins in humans, we have generated a mouse model for the human POT1R117C mutation found in Li-Fraumeni-Like families with cases of cardiac angiosarcoma by introducing this mutation in the Pot1a endogenous locus, knock-in for Pot1aR117C. We find here that both mouse embryonic fibroblasts (MEFs) and tissues from Pot1a+/ki mice show longer telomeres than wild-type controls. Longer telomeres in Pot1a+/ki MEFs are dependent on telomerase activity as they are not found in double mutant Pot1a+/ki Tert-/- telomerase-deficient MEFs. By using complementation assays we further show that POT1a pR117C exerts dominant-negative effects at telomeres. As in human Li-Fraumeni patients, heterozygous Pot1a+/ki mice spontaneously develop a high incidence of angiosarcomas, including cardiac angiosarcomas, and this is associated to the presence of abnormally long telomeres in endothelial cells as well as in the tumors. The Pot1a+/R117C mouse model constitutes a useful tool to understand human cancers initiated by POT1 mutations.

Cardiac Angiosarcomas: Risk of Brain Metastasis and Hemorrhage Warrants Frequent Surveillance Imaging and Early Intervention.

We evaluated a cohort of patients with cardiac angiosarcomas (CA) who developed brain metastases (BM) to define outcomes and intracranial hemorrhage (IH) risk. We reviewed 26 consecutive patients with BM treated between 1988 and 2020 identified from a departmental CA (n=103) database. Causes of death were recorded, and a terminal hemorrhage (TH) was defined as an IH that caused death or prompted a transfer to hospice. The prevalence of BM was 25% (n=26/103). A total of 23 patients (88%) had IH, including 21 (81%) at initial BM diagnosis, of which 18 (86%) required hospitalization. The median platelet count at the time of IH was 235k (interquartile range, 108 to 338k).Nearly all patients died of disease (n=23, 88%) and most patients died from TH (n=13, 57%). TH occurred at BM presentation in 6 (46%) patients, whereas 3 (23%) had TH from known but untreated lesions, 2 (15%) had continued uncontrolled IH during radiation therapy, and 2 (15%) from new BM. Platelet count <50k was not associated with TH (P=0.25).Subsequent IH occurred in 9 patients (35%), and importantly, no patients who completed radiation therapy (n=10) for BM died from TH. Patients with CA frequently develop BM, and the risk of IH is high, resulting in an alarming rate of TH despite normal platelet counts. Therefore, early diagnosis and intervention are warranted. We recommend surveillance brain imaging, and importantly, once BM is detected, prompt local therapy is warranted to try and mitigate the risk of TH.

FDG PET/CT of uncommon cardiac angiosarcoma with bone metastases: a case report

Cardiac angiosarcomas are rare malignant neoplasms with an aggressive clinical course. These are characterized by the absence of specific clinical findings, rapid growth with frequent metastasis at the time of diagnosis, correlated with poor prognosis, and reduced response to treatment. But with early diagnosis, more possibilities for treatment and survival can be provided. We report the case of a young woman diagnosed with right atrial angiosarcoma locally advanced with bone metastases detected by 18F-FDG PET/CT, which revealed distant disease extent at diagnosis, consequently, chemotherapy was started.

High Terminal Hemorrhage Risk From Cardiac Angiosarcoma Brain Metastases Warrants Frequent Brain Imaging and Early Intervention

<h3>Purpose/Objective(s)</h3> Cardiac angiosarcomas (CA) often develop early distant disease with risk of brain metastases (BM) and have recognized hemorrhagic risk. However, limited data exists characterizing this presentation. Therefore, we evaluated a cohort of patients with CA who developed BM to better define outcomes and intracranial hemorrhage (IH) risk. <h3>Materials/Methods</h3> We reviewed 26 consecutive patients with BM treated between 1988 and 2020 identified from a departmental CA (n = 103) database. Institutional practice has shifted over the decades to include a CT head at diagnosis but with infrequent serial imaging. Causes of death were recorded, and a terminal hemorrhage (TH) was defined as an IH that caused death during hospitalization or prompted transfer to hospice. <h3>Results</h3> The prevalence of BM was 25% (n = 26/103) among patients with CA at a median age of 37 years (IQR 26-50). All primary tumors involved the right heart (atrium: n = 20, 77%), and 20 patients (77%) presented with metastases at initial diagnosis, of which only 4 had BM. The median time between initial CA diagnosis to BM was 11 m (IQR 3-18) resulting in a 6-m BM free survival of 65%. There was a median of 3 lesions (IQR 1-7), and a majority had 1-4 (n = 15, 58%). The median follow-up from the time of BM was short at 2 m (IQR 1-6.5) due to a high rate of TH. Nearly all patients died of disease (n = 23, 88%). The 6-m OS from the time of BM was 21%, and most patients died from TH (n = 13, 57%). TH occurred at BM presentation in 6 (46%) patients, whereas 3 (23%) had TH from known and untreated lesions, 2 (15%) had continued uncontrolled IH during RT, and 2 (15%) from new BM. The only factor associated with TH as the cause of death was platelet count as a continuous variable (median 162 vs 360k, <i>P</i> = 0.02; platelet count < 50 vs. ≥50, <i>P</i> = 0.25). Only 18 patients (69%) received treatment for BM due to a high rate of TH at presentation: RT alone in 10 (55%; WBRT n = 6; SRS n = 4), surgery for 4 (22%), surgery + RT for 2 (11%), and chemotherapy for 2 (11%). One patient (6%) developed local failure following surgery alone and 5 (28%) developed distant brain failure. A total of 23 patients (88%) had IH, including 21 (81%) at initial BM diagnosis, of which 18 (86%) required hospitalization. The median platelet count at the time of IH was 235k (IQR, 108-338k). Only 4 patients (17%) had a platelet count < 50k at the time of IH, whereas the majority were above 200k (n = 12, 71%). Subsequent IH occurred in 9 patients (35%), but in only 1 that completed RT, which was minor. No patients who completed RT for BM died from TH. <h3>Conclusion</h3> Patients with CA frequently develop BM, and the risk of IH is high resulting in an alarming rate of TH despite normal platelet counts. Therefore, early diagnosis and intervention is warranted. We recommend incorporating MRI brain imaging into the standard q2-3 month staging evaluation. And importantly, once BM are detected, prompt local therapy is recommended to try and mitigate the risk of TH.

COVID-19 infection and cardiac angiosarcoma: a dangerous combination\u2014a case report

BackgroundThe COVID-19 pandemic has strained all medical systems, especially in countries like Ecuador, where health services were already limited. These conditions, combined with a deadly and unusual disease, like primary heart angiosarcoma, can lead to severe outcomes. Angiosarcomas represent the most common and aggressive primary malignant heart tumor; regretfully, its clinical manifestations are vague and can be easily missed. Most patients become symptomatic when there is local invasion, embolization, or metastases, leading to late diagnosis and poor survival. High clinical awareness, adequate diagnosis, and prompt treatment are vital in these rare diseases, in which time is of paramount importance.Case presentationWe report the case of a 28-year-old female who had cough, hemoptysis, and ground-glass opacities in the CT (computed tomography). Since Ecuador is in the middle of this pandemic, she was misdiagnosed and mistreated. Primary heart angiosarcoma was diagnosed, and regretfully, the patient suffered multiple complications due to diagnosis and died.ConclusionTo this day, most cardiac angiosarcomas are found in a late-stage with distal metastasis and advanced local invasion. Sadly, this tumor is frequently missed due to its incidence and broad-spectrum of clinical symptoms. Considering that its manifestations can be misleading, misdiagnosis can occur, especially in pandemic times. Therefore, knowledge of other pathologies prevents COVID-19 from overshadowing other diagnoses, hence preventing delayed diagnosis or even misdiagnosis and consequent adverse outcomes for patients.

Angiosarcoma of the Heart: Case Report

Cardiac angiosarcomas are rare malignant tumors, predominantly affecting the right heart with poor survival outcomes. The current mainstay of treatment consists of surgery with or without chemotherapy, but often yields limited results with local relapse or metastatic recurrence. This case report describes 2 patients with primary angiosarcoma located in the right atrium. One patient received neo-adjuvant and adjuvant chemotherapy; both were scheduled for surgical resection. The course of disease is described followed by a comprehensive review of the literature.

ANGIOSARCOMAS: A TALE OF THE RIGHT ATRIAL RARITY

SESSION TITLE: Medical Student/Resident Cardiovascular Disease Posters SESSION TYPE: Med Student/Res Case Rep Postr PRESENTED ON: October 18-21, 2020 INTRODUCTION: Primary cardiac tumors are quite rare with reported incidence rates of 0.001-0.3%. Angiosarcomas most commonly occur in the head and neck, but also account for the majority of malignant primary cardiac tumors. Presenting symptoms are nonspecific and disease is often advanced at time of diagnosis, making early identification crucial. CASE PRESENTATION: A 65 year-old male with a history of CAD and tobacco use was transferred from an outside hospital with fevers, chest pain, hemoptysis, and respiratory distress. He had been admitted twice in the past two months for dyspnea, chest pain, and fatigue. Prior evaluation included a cardiac echo, which showed a large pericardial effusion. Pericardiocentesis was completed twice, but was non-diagnostic with negative fluid studies. Lung nodules were noted on CT, but thought to be benign and pulmonology had recommended outpatient follow-up. He was thus treated with ibuprofen and colchicine and discharged. On this admission, CXR and CT angiography again showed nodular lung infiltrates and a moderate pericardial effusion, but a new heterogeneous 5.1 x 6.0 x 5.0 cm right atrial mass was also noted. A normocytic anemia (Hgb=8.8) and thrombocytosis (platelets=490) were present with a WBC count of 6.69. Repeat echo showed a large hypoechoic lesion next to the right atrium without effusion. Cardiac MRI demonstrated a 9 cm lobulated lesion along the anterior border of the right atrium, suspicious for a mycotic pseudoaneurysm. The lesion was inseparable from the right coronary artery and two globular thrombi were visualized within the lesion. Pericardial thickening suspicious for loculation/abscess and innumerable pulmonary opacities suspicious for septic emboli were noted. Cardiothoracic surgery was consulted, but preoperative left heart catheterization showed neovascularization of the right atrial mass concerning for cardiac angiosarcoma. Given the high risk of endomyocardial biopsy, biopsy of a lung lesion was completed and confirmed metastatic cardiac angiosarcoma. Treatment and prognosis were reviewed, and the patient elected hospice care. DISCUSSION: Primary cardiac tumors present with non-specific symptoms, including chest pain, shortness of breath, and malaise. TEE is the test of choice with a sensitivity of 97% although CTA or MRI may be necessary. 90% of tumors arise in the right atrium with the most common site of metastasis being the lungs. Treatment is not standardized given the low incidence and lack of randomized trials. Wide resection is the main treatment modality, as primary tumors are generally resistant to chemotherapy and radiation, but surgery with adjuvant therapy is still considered. Despite therapy, outcomes are poor with a median survival of 6 months. CONCLUSIONS: Recognizing a primary cardiac tumor may be difficult as presenting symptoms are non-specific. Echo is the diagnostic modality of choice with the primary treatment being resection. Reference #1: Metastatic Cardiac Angiosarcoma to the Lung, Spine, and Brain: A Case Report and Review of the Literature. Lin CT, Ducis K, Tucker S, Tranmer B. World Neurosurg. 2017 Nov;107:1049.e9-1049.e12. doi: 10.1016/j.wneu.2017.08.023. Epub 2017 Aug 9. Review. PMID: 28803168 Reference #2: Echocardiographic Features of Cardiac Angiosarcomas: The Mayo Clinic Experience (1976-2013). Kupsky DF, Newman DB, Kumar G, Maleszewski JJ, Edwards WD, Klarich KW. Echocardiography. 2016 Feb;33(2):186-92. doi: 10.1111/echo.13060. Epub 2015 Oct 13. PMID: 26460068 Reference #3: Primary malignant tumors of the heart: Outcomes of the surgical treatment. Pacini D, Careddu L, Pantaleo A, Parolari A, Leone O, Daprati A, Gargiulo GD, Di Bartolomeo R. Asian Cardiovasc Thorac Ann. 2015 Jul;23(6):645-51. doi: 10.1177/0218492315573674. Epub 2015 Feb 18. PMID: 25698795 DISCLOSURES: No relevant relationships by Courtney Certain, source=Web Response No relevant relationships by Kim Jordan, source=Web Response No relevant relationships by Craig Sewell, source=Web Response No relevant relationships by Shenali Wickramanayake, source=Web Response

RESTRICTIVE ENCAPSULATING CARDIAC ANGIOSARCOMA

The incidence of primary heart malignancies is 0.02%, while primary pericardial neoplasms, such as angiosarcomas, is 0.004%. Cardiac angiosarcomas are extremely aggressive with symptoms usually associated with extent of infiltration and its physiological effects. A 42-year-old female with no

PRIMARY RIGHT ATRIAL CARDIAC ANGIOSARCOMA INITIALLY PRESENTING AS SYNCOPE

SESSION TITLE: Tuesday Fellows Case Report Posters SESSION TYPE: Fellow Case Report Posters PRESENTED ON: 10/22/2019 01:00 PM - 02:00 PM INTRODUCTION: Primary cardiac Angiosarcomas are extremely rare, with incidence of about 0.056% (1). These tumors pose significant diagnostic dilemma due to rarity and varied clinical features at presentation. We report our experience while treating a patient with primary right atrial cardiac angiosarcoma who initially presented with syncope. CASE PRESENTATION: A 45-year-old Spanish woman presented to the emergency room after an episode of syncope. She reported having shortness of breath, sweating and fatigue for 2 weeks prior to the incident. A chest radiograph revealed an enlarged cardiac silhouette, and computed tomography (CT) showed an enhancing mass along the right cardiac border, measuring 4.6 cm by 5.9 cm (Image 1). An Echocardiogram showed a right atrial mass (Image 2) with significant pericardial effusion. Percutaneous CT guided biopsy showed a vascularized mass and the patient underwent an exploratory surgery and removal of tumor. Cytological analysis of the mass failed to provide a diagnosis. 11 months from the surgery, the patient presented with shortness of breath and intense right leg pain. A CT scan of the chest revealed aggressive recurrence of the tumor with cardiac/mediastinal mass invading the right atrium, the right ventricle, the inferior vena cava, the main pulmonary trunk, right middle lobe bronchus and the aorta. There was extensive mediastinal adenopathy as well as right sided pleural effusion (Image 3). There was another mass seen in the right femur and it was biopsied, with a histo-pathological analysis confirming metastatic angiosarcoma. She was started on paclitaxel with a dose of 80 mg/m2 weekly, and tolerated it well. She continues to follow up with Oncology. DISCUSSION: Primary cardiac Angiosarcomas are rare tumors and are usually metastatic at the time of diagnosis. Cardiac Angiosarcomas can present with varying symptoms, these clinical features depend on the tumor size, location, and the extent of the local or distant spread. This tumor affects the right atrium commonly, a feature that is distinct from Atrial Myxoma which usually affects the left atrium. This knowledge can aid clinicians in suspecting an aggressive disease early. Resection, in combination with adjuvant treatment including chemotherapy, radiotherapy, and molecular targeted therapies give the best chance for prolonging survival. Chemotherapeutic regimens include anthracyclines, taxanes or ifosfamide (2). Doxyrubicin based treatments although well known for their cardiotoxic adverse effects have been used as the standard treatment for locally advanced and metastatic disease (3) often with local radiotherapy. CONCLUSIONS: In conclusion, primary Cardiac Angiosarcomas have a rapidly progressive and fatal course with mean survival of 6-11 months from diagnosis. Early diagnosis, with multimodality approach tailored to each patient gives the best chance of prolonged survival. Reference #1: Lam KY, Dickens P, Chan AC. Tumors of the heart. A 20-year experience with a review of 12,485 consecutive autopsies. Arch Pathol Lab Med. 1993 Oct;117(10):1027-31 Reference #2: Schur S, Hamacher R, Brodowicz T. Pazopanib in Primary Cardiac Angiosarcoma of the Right Atrium: A Case Report. Case Reports in Oncology 2016;9(2):363–367. Reference #3: Penel N, Bui BN, Bay J-O, et al. Phase II Trial of Weekly Paclitaxel for Unresectable Angiosarcoma: The ANGIOTAX Study. Journal of Clinical Oncology 2008;26(32):5269–5274. DISCLOSURES: No relevant relationships by Yizhak Kupfer, source=Web Response No relevant relationships by Namrita Malhan, source=Web Response No relevant relationships by Ravikaran Patti, source=Web Response No relevant relationships by Vignesh Ponnusamy, source=Web Response No relevant relationships by Ankur Sinha, source=Web Response No relevant relationships by Parita Soni, source=Web Response

POT1 and Damage Response Malfunction Trigger Acquisition of Somatic Activating Mutations in the VEGF Pathway in Cardiac Angiosarcomas.

BackgroundMutations in the POT1 gene explain abnormally long telomeres and multiple tumors including cardiac angiosarcomas (CAS). However, the link between long telomeres and tumorigenesis is poorly understood.Methods and ResultsHere, we have studied the somatic landscape of 3 different angiosarcoma patients with mutations in the POT1 gene to further investigate this tumorigenesis process. In addition, the genetic landscape of 7 CAS patients without mutations in the POT1 gene has been studied. Patients with CAS and nonfunctional POT1 did not repress ATR (ataxia telangiectasia RAD3‐related)–dependent DNA damage signaling and showed a constitutive increase of cell cycle arrest and somatic activating mutations in the VEGF (vascular endothelial growth factor)/angiogenesis pathway (KDR gene). The same observation was made in POT1 mutation carriers with tumors different from CAS and also in CAS patients without mutations in the POT1 gene but with mutations in other genes involved in DNA damage signaling.ConclusionsInhibition of POT1 function and damage‐response malfunction activated DNA damage signaling and increased cell cycle arrest as well as interfered with apoptosis, which would permit acquisition of somatic mutations in the VEGF/angiogenesis pathway that drives tumor formation. Therapies based on the inhibition of damage signaling in asymptomatic carriers may diminish defects on cell cycle arrest and thus prevent the apoptosis deregulation that leads to the acquisition of driver mutations.

Primary cardiac angiosarcoma diagnosed in the first trimester of pregnancy

Primary cardiac angiosarcoma (PCAS) is a malignancy seldom seen in pregnancy. A 23-year-old G1P0 Chinese female was found to have PCAS during her first trimester when she presented with tamponade physiology. The transthoracic echocardiography (TTE) results did not indicate the presence of an intracardiac lesion, and pericardial fluid cytology analysis showed no evidence of malignancy. Cardiac magnetic resonance imaging (CMRI) exhibited a right atrial mass, and tissue biopsy indicated a high-grade angiosarcoma. MRI of the abdomen was suggestive of liver metastasis. She underwent an abortion and was started on combination chemotherapy, with a reduction in both the cardiac and liver masses. In cardiac angiosarcomas, advanced imaging modalities such as MRI should be utilised when there is high clinical suspicion or in the case of pregnancy when trying to minimise foetal harm. Prognosis is poor, and a standardised treatment protocol regardless of pregnancy continues to elude the medical community.