13 research outputs found
Case Report Sudden Death by Pulmonary Thromboembolism due to a Large Uterine Leiomyoma with a Parasitic Vein to the Mesentery
The pathophysiology of venous thrombosis is classically attributed to alterations in one or more components of Virchow's triad: hypercoagulability, stasis, and damage to the vascular endothelium. Deep vein thrombosis (DVT) may lead to pulmonary thromboembolism (PE), and the latter is culpable for many deaths annually in the United States; however, DVT as a complication of uterine leiomyoma has rarely been reported. We report a case of a 57-year-old woman whose death was due to a large pedunculated subserosal leiomyoma externally compressing the pelvic veins resulting in stasis and venous thrombosis leading to fatal PE. The association of large pelvic masses with venous thrombosis has clinical implications, since prophylactic surgery could be life-saving
Case report: whole exome sequencing of primary cardiac angiosarcoma highlights potential for targeted therapies
Abstract
Background
Primary 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 presentation
A 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\u2019s postmortem tumor revealed a novel KDR (G681R) mutation, and focal high-level amplification at chromosome 1q encompassing MDM4 , a negative regulator of TP53.
Conclusion
Mutations 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
Case report: whole exome sequencing of primary cardiac angiosarcoma highlights potential for targeted therapies
Sudden Death by Pulmonary Thromboembolism due to a Large Uterine Leiomyoma with a Parasitic Vein to the Mesentery
The pathophysiology of venous thrombosis is classically attributed to alterations in one or more components of Virchow’s triad: hypercoagulability, stasis, and damage to the vascular endothelium. Deep vein thrombosis (DVT) may lead to pulmonary thromboembolism (PE), and the latter is culpable for many deaths annually in the United States; however, DVT as a complication of uterine leiomyoma has rarely been reported. We report a case of a 57-year-old woman whose death was due to a large pedunculated subserosal leiomyoma externally compressing the pelvic veins resulting in stasis and venous thrombosis leading to fatal PE. The association of large pelvic masses with venous thrombosis has clinical implications, since prophylactic surgery could be life-saving
Acute myocardial infarction secondary to mucormycosis after lung transplantation
We present a case of a 57-year-old man who underwent bilateral lung transplantation for idiopathic pulmonary fibrosis. His immediately post-operative course was complicated by fever and cardiac arrest. Despite supportive care and broad-spectrum antibiotics, he experienced continued clinical decline. Autopsy results indicated angioinvasive mucormycosis and coronary arteritis resulting in acute myocardial infarction as the cause of death
Additional file 2: Table S2. of Case report: whole exome sequencing of primary cardiac angiosarcoma highlights potential for targeted therapies
Basic Next Generation Sequencing Whole Exome Alignment Statistics. (DOCX 13 kb