title: Consistent cytogenetic aberrations in hepatoblastoma: a common pathway of genetic alterations in embryonal liver and skeletal muscle malignancies?
abstract: Cytogenetic analyses of four consecutive hepatoblastomas revealed near-diploid stemline karyotypes with relatively simple chromosome aberrations. Cytogenetic abnormalities shared by each tumor included trisomy for all of part of chromosome 2 and trisomy for chromosome 20. In two cases, partial trisomy for chromosome 2 resulted from direct duplication of long arm material with the shortest region of overlap being 2q23-2q35. In one tumor, each metaphase also contained a variable number of double minute chromosomes found not to derive from NMYC amplification. Interestingly, trisomy for 2q and trisomy 20 are also characteristic events in pediatric embryonal rhabdomyosarcomas. Furthermore, others have reported loss of heterozygosity for the short arm of chromosome 11 in both hepatoblastoma and childhood embryonal rhabdomyosarcoma, and both these malignant diseases are associated with Beckwith-Wiedemann syndrome. These cytogenetic and molecular findings suggest a parallel pathway of genetic steps in the initiation and/or progression of tumors of embryonal liver and skeletal muscle.
authors.affiliation: Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts 02115.
authors.forename: J A
authors.initials: JA
authors.lastname: Fletcher
authors.forename: H P
authors.initials: HP
authors.lastname: Kozakewich
authors.forename: K
authors.initials: K
authors.lastname: Pavelka
authors.forename: H E
authors.initials: HE
authors.lastname: Grier
authors.forename: R C
authors.initials: RC
authors.lastname: Shamberger
authors.forename: B
authors.initials: B
authors.lastname: Korf
authors.forename: C C
authors.initials: CC
authors.lastname: Morton
mesh_terms: D006528:Carcinoma, Hepatocellular / Q000235:genetics*; D002869:Chromosome Aberrations; D002880:Chromosomes, Human, Pair 11 / Q000648:ultrastructure; D002889:Chromosomes, Human, Pair 2 / Q000648:ultrastructure*; D002890:Chromosomes, Human, Pair 20 / Q000648:ultrastructure*; D005260:Female; D005784:Gene Amplification; D016259:Genes, myc; D006801:Humans; D007223:Infant; D008099:Liver / Q000196:embryology; D008113:Liver Neoplasms / Q000235:genetics*; D008297:Male; D009132:Muscles / Q000196:embryology; D012208:Rhabdomyosarcoma / Q000196:embryology / Q000235:genetics; D014314:Trisomy