CTICasesMediastinal Yolk Sac Tumor in Klinefelter Syndrome
Imaging findings
CT chest shows a large, aggressive, necrotic anterior mediastinal mass invading the right subclavian vein, associated with multiple bilateral pulmonary metastases and tumor emboli within the pulmonary arteries. The patient has gynecomastia and a history of Klinefelter syndrome.
Key takeaways
Klinefelter syndrome (47,XXY) is strongly associated with the development of primary mediastinal malignant non-seminomatous germ cell tumors (specifically yolk sac tumors), often presenting with gynecomastia. These tumors are highly aggressive and can invade local veins, leading to tumor emboli and hematogenous metastases.
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