Small Cell Undifferentiated Hepatoblastomas (SCUD): All Malignant Rhabdoid Tumors?

Abstract

Small cell undifferentiated hepatoblastoma (SCUD) is a rare variant of hepatoblastoma with poor outcome and loss of INI1 expression, sharing this with malignant rhabdoid tumors (MRT). We studied all tumors from the files of the Kiel Pediatric Tumor Registry (KTR) with the initial diagnosis of SCUD and MRT. After re-review, we performed immunistochemistry, FISH and MLPA for loss of expression and deletion of INI1/SMARCB1 in 23 tumors. Morphologically, 12 of the tumors had a small cell morphology, nine showed the typical picture of MRT and two were composed of both small cells and rhabdoid cells. All but one of the 23 tumors showed loss of INI1 protein expression by immunohistochemistry. Nineteen of the INI1 negative tumors were analysed by FISH technique and all showed a deletion of the INI1/SMARCB1 gene (17 homozygous deletions, 2 heterozygous deletions). We investigated 14 of these cases by MLPA and verified the deletions in all cases. In conclusion, we postulate that small cell undifferentiated hepatoblastoma (HB) is not a hepatoblastoma but represents a malignant rhabdoid tumor of the liver. This article is protected by copyright. All rights reserved.

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