Clinical feature of anaplastic lymphoma kinase-mutated neuroblastoma.

Purpose: Anaplastic lymphoma kinase (ALK) has recently been identified as a gene conferring a predisposition for neuroblastoma. We have analyzed tyrosine kinase domain mutations and amplification/expression of the ALK gene and focused on clinical features of neuroblastoma cases with ALK aberrations.

Methods: The frequency of ALK mutations, copy number gain, and expression were analyzed in 538 neuroblastoma tumors derived from 361 cases, including 161 cases detected by mass screening.

Wnt signaling and telomerase activation of hepatoblastoma: correlation with chemosensitivity and surgical resectability.

Purpose: Recently, it became apparent that telomerase directly modulated Wnt signaling as a cofactor in a β-catenin transcriptional complex. In this study, we investigated Wnt/β-catenin signaling and telomerase activation in hepatoblastoma (HBL).

Methods: Tumors derived from 56 HBL cases treated with the Japanese Study Group for Pediatric Liver Tumors (JPLT) Protocol-2 were analyzed for oncogenic mutations (missense mutations and interstitial deletions in the third exon) of the CTNNB1 gene-encoding β-catenin and for the expression levels of telomerase reverse transcriptase (TERT).

Outcome of hepatoblastomas treated using the Japanese Study Group for Pediatric Liver Tumor (JPLT) protocol-2: report from the JPLT.

Background: In the recent years, surgical resection with pre- and/or postoperative chemotherapy has markedly improved the survival rate of hepatoblastoma patients. We herein report the results of patients treated with the current protocol of the Japanese Study Group for Pediatric Liver Tumor, JPLT-2.

Methods: A total of 279 patients with malignant liver tumor were enrolled in JPLT-2.

Surgical intervention for patent ductus venosus.

Patent ductus venosus (PDV) is a rare condition, which usually presents secondary to hepatic atrophy and hepatic failure. We have treated eight cases of PDV, all with hypergalactosemia and hyperbilirubinemia. Ultrasonography and three-dimensional computed tomography demonstrated communication between the portal vein and the inferior vena cava.

Evaluation of genes identified by microarray analysis in favorable neuroblastoma.

Purpose: The biological heterogeneity of neuroblastoma results in a varied outcome ranging from spontaneous regression to fatal tumor progression. Microarray expression profiling and genetic polymorphism arrays may help identify key genes that differ in aggressive neuroblastomas from those observed in tumors associated with a favorable outcome.

Methods: Total RNA was extracted from 16 neuroblastomas obtained from patients who subsequently died of the disease and from 16 favorable neuroblastomas and analyzed using a human whole genome oligomicroarray (55K CodeLink).

Detection of CpG island hypermethylation of caspase-8 in neuroblastoma using an oligonucleotide array.

Background: The caspase-8 gene (CASP8) is frequently inactivated in unfavorable neuroblastomas through DNA methylation. The present study utilized oligoarrays to evaluate the methylation status of a CpG island located between exons 2 and 3 of caspase 8 in neuroblastomas.

Procedure: DNA derived from 70 neuroblastomas was amplified by PCR after bisulfate modification and subjected to analysis on a self-made oligoarray that utilized a polycarbodiimide-coated slide to detect methylation of six intragenic CpG islands of caspase 8.

Single nucleotide polymorphism array analysis to predict clinical outcome in neuroblastoma patients.

Purpose: Neuroblastoma (NB) is a heterogeneous tumor and demonstrates favorable or unfavorable outcomes. In Japan, a nationwide NB mass screening (MS) had been performed on 6-month-old infants for approximately 20 years, which might have detected almost all NB including regressing/maturing tumors. To clarify the heterogeneity of this tumor, we examined genetic alterations in the representative cases using genomewide microarrays.