Abstract
BackgroundPrimary cardiac angiosarcomas are rare, but they are the most aggressive type of primary cardiac neoplasms. When patients do present, it is with advanced pulmonary and/or cardiac symptoms. Therefore, many times the correct diagnosis is not made at the time of initial presentation. These patients have metastatic disease and the vast majority of these patients die within a few months after diagnosis. Currently the treatment choices are limited and there are no targeted therapies available.Case presentationA 56-year-old male presented with shortness of breath, night sweats, and productive cough for a month. Workup revealed pericardial effusion and multiple bilateral pulmonary nodules suspicious for metastatic disease. Transthoracic echocardiogram showed a large pericardial effusion and a large mass in the base of the right atrium. Results of biopsy of bilateral lung nodules established a diagnosis of primary cardiac angiosarcoma. Aggressive pulmonary disease caused rapid deterioration; the patient went on hospice and subsequently died. Whole exome sequencing of the patient’s postmortem tumor revealed a novel KDR (G681R) mutation, and focal high-level amplification at chromosome 1q encompassing MDM4, a negative regulator of TP53.ConclusionMutations in KDR have been reported previously in angiosarcomas. Previous studies also demonstrated that KDR mutants with constitutive KDR activation could be inhibited with specific KDR inhibitors in vitro. Thus, patients harboring activating KDR mutations could be candidates for treatment with KDR-specific inhibitors.
Highlights
Primary cardiac angiosarcomas are rare, but they are the most aggressive type of primary cardiac neoplasms
Somatic alterations in primary cardiac angiosarcoma We performed generation sequencing on tumor and germline DNA from a 56-year old male patient with diagnosed primary cardiac angiosarcoma using a 55.2 Mbp custom whole exome capture kit
In this report we characterized the genomic landscape of a rare primary cardiac angiosarcoma tumor taken postmortem from a 56 year old male patient
Summary
Primary cardiac angiosarcomas are rare, but they are the most aggressive type of primary cardiac neoplasms. Many times the correct diagnosis is not made at the time of initial presentation These patients have metastatic disease and the vast majority of these patients die within a few months after diagnosis. Workup revealed pericardial effusion and multiple bilateral pulmonary nodules suspicious for metastatic disease. Due to the late stage at presentation, prognosis for patients with primary angiosarcoma of the heart is poor; median overall survival varies from 6 months or less for Zhrebker et al BMC Cancer (2017) 17:17 untreated patients to 12 months for patients with incomplete tumor resection [6, 10,11,12]. Cardiac transplantation for patients with primary cardiac angiosarcoma has been reported, albeit with poor outcomes, with most patients dying from recurrence within 1 year of surgery. Cardiac transplantation is not currently recommended even for patients without evidence of metastatic disease due to lack of survival benefit to patients with transplantation [13,14,15]
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