Cardiology>>>>>Genetics, Lipids And Tumours
Question 26#

You have been asked to see a 56-year-old male inpatient who presented 2 months previously with progressive shortness of breath and fever. He was discovered to have a large pericardial effusion which was tapped and was found to contain poorly differentiated cells. Subsequent CT imaging showed him to have widespread pulmonary metastasis with a 3 cm lobulated mass arising from and projecting into the right atrium, compressing the inferior vena cava. Biopsy tissue was obtained and confirms angiosarcoma.

Which one of the following statements is true?

A. 2% of atrial myxoma can metastasize, typically to the lung
B. The peak age of presentation is the sixth decade
C. Angiosarcoma is typically symptomatic early in the disease process
D. Angiosarcoma is most common in the left ventricle, arising from around the insertion of the posterior mitral valve
E. Tumours showing mutations of the TP53 gene have been described

Correct Answer is E

Comment:

The most common of the primary cardiac malignant tumours, angiosarcoma is a tumour of endothelial cell differentiation. It is found in patients of all ages, with a peak in the fourth decade, and there is no sex predilection. The most common site is the right atrium. Angiosarcoma of the heart is considered primary if there is no evidence of previous or concomitant tumours in the soft tissue, bone, or subcutaneous tissue. Presenting symptoms include fever, myalgia, and weight loss as well as chest pain and arrhythmias. In more advanced disease, lung metastasis, congestive heart failure, and large pericardial effusions can be seen. Endomyocardial biopsy can provide in vivo diagnosis. Echocardiography will demonstrate an irregular echogenic mass, typically associated with a pericardial effusion. Angiographically the mass can appear to be highly vascular. CT and CMR show the heterogeneity of the mass, including tissue necrosis and haemorrhage. One-third of angiosarcomas are poorly differentiated, and two-thirds are moderately differentiated. Cells can express endothelial cell antigen (factor VIII, von Willebrand factor, CD31, and CD34), and mutations of the TP53 and K-ras genes have been reported. Mean survival is 10 months.