Synchronous Undifferentiated Embryonal Sarcoma of the Liver and Fibrolamellar Hepatocellular Carcinoma in a Patient with Adenosine Deaminase Deficiency.
Asli Noyan, Azer Karaman, Deniz Ilgun Gurel et al.
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Case in brief
A 7-year-old boy with adenosine deaminase deficiency presented with fever, elevated acute phase reactants, and a heterogeneous cystic liver mass measuring 85 × 60 mm on ultrasonography. MRI also showed a second nodule in segments 5 and 6. Although an abscess was initially suspected, biopsy established undifferentiated embryonal sarcoma of the liver. Following chemotherapy, he underwent left lobectomy and wedge resections. Histology showed complete necrosis of the sarcoma and revealed a second primary tumor, fibrolamellar hepatocellular carcinoma.
What made this case unusual
Two distinct primary hepatic malignancies—undifferentiated embryonal sarcoma and fibrolamellar hepatocellular carcinoma—were found in a child with adenosine deaminase deficiency; the relationship between this immunodeficiency and hepatic tumors remains unclear.
Diagnostic / clinical pearl
A cystic liver mass with fever and inflammatory markers may mimic an abscess; tissue diagnosis can identify malignancy. In this case, examination of resection specimens also disclosed a second hepatic primary.
Why it matters
The case raises the possibility of multiple primary hepatic malignancies in an immunodeficient patient and underscores that their association with adenosine deaminase deficiency requires further investigation.