title: Genetic abnormalities in a pre and post-chemotherapy hepatoblastoma.
abstract: Comparative genomic hybridization (CGH) analysis was performed on both a pre- and post-chemotherapy hepatoblastoma from a 24-month-old female patient. The diagnostic sample obtained from a tru-cut biopsy was a mixed epithelial-mesenchymal tumor with both fetal and embryonal patterns present. In contrast, the post-chemotherapy tumor exhibited a prominent anaplastic large cell population focally reminiscent of pleomorphic hepatocellular carcinoma (HCC). CGH analysis indicated that there were similarities as well as differences in the gains and losses of genetic material in each tumor. The diagnostic sample had gains of chromosome 1q, 2, 2(q31q33), 7, 8q, 12(q15q22), 17q and 20 material, while the post-chemotherapy tumor had gains of 1q, 2, 7, 8q, 10, 17q and 20 material. In addition, the pre- and post-chemotherapy samples may have incurred loss of chromosome 17p material. The main differences between the two samples involved localized gain of 2(q31q33) and 12(q15q22) in the pre-chemotherapy sample, and gain of chromosome 10 material in the post-chemotherapy tumor. The patient subsequently developed metastatic nodules in her lungs, the histology of which was identical in pattern to the diagnostic pattern, and appeared to have localized gain of 2(q31q33) and 12(q15q22). These results are consistent with published results that gain of chromosome 8q and 20 are associated with an unfavorable prognosis.
authors.affiliation: National Centre for Medical Genetics, Our Lady's Hospital for Sick Children, Crumlin, Dublin, Ireland.
authors.forename: M
authors.initials: M
authors.lastname: Mullarkey
authors.forename: C J
authors.initials: CJ
authors.lastname: Breen
authors.forename: M
authors.initials: M
authors.lastname: McDermott
authors.forename: A
authors.initials: A
authors.lastname: O'Meara
authors.forename: R L
authors.initials: RL
authors.lastname: Stallings
mesh_terms: D002675:Child, Preschool; D002869:Chromosome Aberrations; D002877:Chromosomes, Human / Q000235:genetics*; D005260:Female; D015894:Genome, Human; D018197:Hepatoblastoma / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D006801:Humans; D009693:Nucleic Acid Hybridization; D011379:Prognosis