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. 1994 Dec;120(12):732–736. doi: 10.1007/BF01194272

Occasional loss of constitutive heterozygosity at 11p15.5 and imprinting relaxation of theIGFII maternal allele in hepatoblastoma

Marco Montagna 1, Chiara Menin 2, Luigi Chieco-Bianchi 1, Emma D'Andrea 1,✉
PMCID: PMC12201864  PMID: 7798299

Abstract

The 11p15.5 chromosomal region contains one or more loci involved in congenital developmental abnormalities and in the genesis of embryonal tumors, such as Wilms' tumor, embryonal rhabdomyosarcoma, and hepatoblastoma. In these tumors, a loss of constitutive heterozygosity, selectively involving a specific parental allele, suggests both the presence of onco-suppressor genes and a phenomenon of genomic imprinting. We present evidence that both genetic events could be occasionally involved in hepatoblastoma. In fact, loss of heterozygosity at 11p15.5 could be documented in 3 of 13 patients with hepatoblastoma, and in 2 cases the paternal origin of the residual allele in the tumor was assessed. Moreover, imprinting of the paternal IGFII allele and the maternal H19 allele was confirmed in normal tissues of 5 informative patients. Finally, imprinting relaxation of IGFII was detected in the tumor tissue of 1 patient.

Key words: Loss of heterozygosity, Loss of imprinting, Hepatoblastoma, IGFII-H19

Abbreviations

IGFII

insulin-like growth factor II

BWS

Beckwith-Wiedemann syndrome

eRMS

embryonal rhabdomyosarcoma

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