We have analyzed several cases of Beckwith-Wiedemann syndrome (BWS) with Wilms' tumor in a familial setting, which give insight into the complex controls of imprinting and gene expression in the chromosome 11p15 region. We describe a 2.2-kbp microdeletion in the H19͞insulin-like growth factor 2 (IGF2)-imprinting center eliminating three target sites of the chromatin insulator protein CTCF that we believe here is necessary, but not sufficient, to cause BWS and Wilms' tumor. Maternal inheritance of the deletion is associated with IGF2 loss of imprinting and up-regulation of IGF2 mRNA. However, in at least one affected family member a second genetic lesion (a duplication of maternal 11p15) was identified and accompanied by a further increase in IGF2 mRNA levels 35-fold higher than control values. Our results suggest that the combined effects of the H19͞IGF2-imprinting center microdeletion and 11p15 chromosome duplication were necessary for manifestation of BWS.insulin-like growth factor 2 ͉ H19 ͉ differentially methylated region

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The objective of this work was to test feasibility and efficacy of hepatic artery chemoembolization (HACE) in unresectable malignant liver tumors. Five patients aged from 1-12 years were treated in the Medical University of Gdansk from 1999 to 2002. All had locally advanced tumors, which did not respond to systemic chemotherapy: four, hepatoblastoma (HB) and one, hepatocellular carcinoma (HCC). Arteriography was performed and chemoembolization suspension (cisplatin + doxorubicin + mitomycin mixed with lipiodol) was injected, followed by gelatin foam particles. The procedure was performed one to three times in each patient. In four patients (three, HB, one, fibrolamellar HCC), tumor response was observed, with decrease in the diameter of the mass of 25-33% and fall in the AFP level of 83-99%. One child with HB was non-evaluable due to early death caused by systemic myelotoxicity. Two patients (2 HB) underwent macroscopically complete tumor resection, 1 is alive and well, and 1 died at the end of surgery for an unknown reason (possibly related to cardiotoxicity of earlier systemic chemotherapy). One HB patient was successfully transplanted after two HACE courses. The only HCC patient died because of pulmonary oil embolism immediately after the third HACE course. HACE can lead to tumor regression in most cases and may be considered an alternative for patients with unresectable liver tumors who do not respond to primary systemic chemotherapy and are not candidates for liver transplantation for various reasons.

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