Cytogenetic abnormalities and clonal evolution in an adult hepatoblastoma

• Hepatoblastomas usually occur in children < 3 years of age, and only occasional adult cases have been described. To date, 20 cytogenetically abnormal childhood hepatoblastomas have been reported. Karyotypic investigations have shown that most hepatoblastomas are diploid or hyperdiploid, often displaying trisomies for chromosomes 2 and 20. We have cytogenetically investigated an adult hepatoblastoma for which no previous karyotypic data exist. A hypertriploid stemline with multiple numerical and structural chromosomal aberrations, including +2 and +20, was found. In addition, the tumor displayed extensive clonal evolution with 11 subclones. Although the tumor thus displayed some chromosomal abnormalities commonly observed in childhood tumors, providing further support for the importance of these abnormalities in the development of hepatoblastoma, the level of genomic complexity seen in the present case has never been described in childhood hepatoblastomas and may suggest a different etiology or pathogenesis.

Nyckelord

Keratins/analysis

Karyotyping

Immunohistochemistry

Humans

Hepatoblastoma/chemistry/ genetics/ pathology

Pair 1

Human

Chromosomes

Chromosome Disorders

Aged

Chromosome Aberrations

Liver Neoplasms/chemistry/ genetics/ pathology

Male

Tumor Markers

Biological/analysis

Publikations- och innehållstyp

art (ämneskategori)

ref (ämneskategori)