Copy-number variations in hepatoblastoma associate with unique clinical features

Purpose: Hepatoblastoma is a rare childhood liver malignancy with limited relevant cytogenetic data. This study aimed to discover common genomic copy-number variations (CNVs) in subjects with hepatobalstoma and its relevance to the clinical course. Methods: Gene copy-number was systemically rated by high-resolution comparative genomic hybridization (CGH) DNA oligonucleotide microarray. The study group consisted of 12 children (7 males and 5 females) with hepatoblastoma and another 20 healthy individuals (10 males and 10 females) as controls. The influence of recurrent CNVs on clinical outcomes was analyzed. Results: Four highly recurrent CNVs were identified in these 12 hepatoblastoma children after comparison with controls, including a gain on 1p13.3 (n = 3, 25%) and losses on 5p15.33 (n = 4, 33.3%), 16q12.2 (n = 4, 33.3%), and 19q13.42 (n = 3, 25%). The most prevalent sites of genomic deletion were 5p15.33 and 16q12.2. Zinc finger, DHHC-type containing 11 (ZDHHC11) and DHHC-type containing 11B (ZDHHC11B) were mapped to 5p15.33, which was associated with a lower rate of survival with native liver (p = 0.03). The carboxylesterase 4-like (CES4) gene that mapped to 16q12.2 was associated with smaller tumor size at presentation. Conclusions: Deletions of 5p15.33 (33.3%) and 16q12.2 (33.3%) are the most frequent hepatoblastoma-related events in our patient group with 5p15.33 microdeletion as a potential biomarker for the fate of survival with native liver. ? 2012 Asian Pacific Association for the Study of the Liver.