Karyotypic analyses of hepatoblastoma - Report of two cases and review of the literature suggesting chromosomal loci responsible for the pathogenesisof this disease

Two cases of fetal hepatoblastoma with unique karyotypic changes are descri bed. One was a 27-month-old boy with multiple unbalanced chromosomal transl ocations, resulting in four types of derivative chromosomes involving chrom osomal loci at 1q21, 1q32, 2q23, 6q27, 7p22, and 22p12, patial tetrasomy of 1q, partial trisomy of 2q, and partial monosomy of 21p. The clonal karyoty pe of this tumor was 46,XY.der(2)t(1;2)(q32;q37), der(6)t(1;6)(q12;q27), de r(7)t(2;7)(q23;p22), der(21)t(2;21) (q23;p12). in the other case. a 4-year- old girl, karyotypic analyses revealed trisomy 2 and 8, and the clonal kary otype of this case was 48,XX, +2,+8. Review of these cases together with pr evious reports suggested the significance of chromosomal changes including numerical abnormalities of 1q, 2 (or 2q), 20, and 8 (or 8q), and breakage o f 1q and 2q in the development of hepatoblastoma. The results presented her ein underscore the significance of numerical abnormalities of chromosomal r egions 1q and 2q and of chromosome 8 in the development of hepatoblastoma, in addition to abnormalities of 6q27, 7p22, and 21p12 similar to 13 as othe r chromosomal loci that may be responsible for the pathogenesis of this emb ryonal type of tumor. (C) Elsevier Science Inc., 1999. All rights reserved.