An Innovative Approach to the Diagnosis of Cardiac Angiosarcoma

Abstract

We present a case of a 32-year-old female presenting with shortness of breath and increasing oxygen requirements. Further imaging discovered a large mass extending circumferentially into the pericardium, cardiac wall, and chambers, involving the anterior and middle mediastinum. Direct tissue biopsy of the mass for a diagnosis was unsafe. Therefore, advanced flow cytometric analysis for tumor marker expression of the malignant effusion was used to differentiate the mass as a vascular sarcoma, consistent with cardiac angiosarcoma. Additionally, cytometric analysis for programmed cell death protein 1 (PD1), programmed death-ligand 1 (PDL1), and cytotoxic T-lymphocyte-associated antigen 4 (CTLA4) was also performed; a study seldom investigated for angiosarcomas but may have advantages over immunohistochemical analysis.

Primary cardiac angiosarcoma initially diagnosed on pericardial fluid cytology with histology and autopsy correlation

“…The first cytomorphology description of cardiac angiosarcoma in pericardial fluid was reported by Randall et al 5 The cells were arranged in flat clusters, with oval to spindle-shaped irregular nuclei, unevenly distributed chromatin and wispy cytoplasm. A more recent report by Kennedy et al 3 demonstrated clusters of large epithelioid malignant angiosarcoma cells in the pericardial fluid with high N:C ratio and uneven chromatin. Chang et al 2 and Ogino et al 4 described metastatic angiosarcoma (noncardiac origin) cells in pleural effusions, both of which showed epithelioid cells in clusters.…”

“…However vast majority of cases reported in the literature showed negative pericardial fluid cytology, and initial diagnosis of primary cardiac angiosarcoma based on pericardial fluid cytology has very rarely been reported. 3,5 The most likely cause of this low sensitivity is the paucity of malignant cells in the specimens. In addition, due to the rarity of the disease seen in body fluid, cytopathologists are not familiar with the cytomorphology and likely to have low suspicion for the disease.…”

“…As seen in our case, patients with primary cardiac angiosarcoma almost always present with relentless reoccurring massive pericardial effusions, making pericardial fluid a potential tool for early diagnosis of this disease. However vast majority of cases reported in the literature showed negative pericardial fluid cytology, and initial diagnosis of primary cardiac angiosarcoma based on pericardial fluid cytology has very rarely been reported 3,5 . The most likely cause of this low sensitivity is the paucity of malignant cells in the specimens.…”

“…The low sensitivity is either because of the paucity of malignant cells or due to low familiarity/suspicion and lack of proper workup. The limited data available showed that angiosarcoma cells in effusions more often appear epithelioid, and less often spindle-shaped, [2][3][4][5] which could pose extra challenge to the work up. Unfortunately, patients with this disease often only receive definitive diagnosis post-mortem.…”

A Rare Case of Undifferentiated Pleomorphic Cardiac Sarcoma

“…Despite advancements in non-invasive imaging modalities, which are of great value in the characterization of the mass, histopathological examination is required to establish a definitive diagnosis [ 10 ].…”