Abstract
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.
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Abbreviations
- array-CGH:
-
Array-based comparative genomic hybridization
- CNVs:
-
Copy-number variations
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Conflict of interest
This work was supported by the National Health Research Institute of Taiwan (NHRI-EX96-9418B1, NHRI-EX97-9418B1, NHRI-EX98-9418B1, and DOH99-TD-C-111-004).
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J.-F. Wu and C.-H. Lee contributed equally to this work.
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Wu, JF., Lee, CH., Chen, HL. et al. Copy-number variations in hepatoblastoma associate with unique clinical features. Hepatol Int 7, 208–214 (2013). https://doi.org/10.1007/s12072-012-9350-y
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DOI: https://doi.org/10.1007/s12072-012-9350-y