Rearrangement in the coding region of the MYCN gene in a subset of amplicons in a case of neuroblastoma with MYCN amplification Journal Article
| Authors: | Chen, B.; Jhanwar, S. C.; Ladanyi, M. |
| Article Title: | Rearrangement in the coding region of the MYCN gene in a subset of amplicons in a case of neuroblastoma with MYCN amplification |
| Abstract: | The MYCN gene is often amplified but rarely rearranged in neuroblastoma. We report, for the first time, a rearrangement within the MYCN coding region in a metastatic neuroblastoma in a 3-year-old boy with MYCN amplification in his primary tumor. The rearrangement occurred 46 nucleotides downstream from the ATG codon in exon 2 of MYCN. The amplification level of the rearranged copies of the MYCN gene was lower than that of the unrearranged copies of MYCN. These results indicate that the rearrangement occurred after initial MYCN gene amplification. Monochromosomal somatic cell hybrid mapping of the novel region fused to exon 2 of MYCN localized it to chromosome 2, suggesting that this rearrangement resulted from an interstitial deletion, presumably within the MYCN amplicon itself. |
| Keywords: | child; child, preschool; human cell; case report; combined modality therapy; polymerase chain reaction; in situ hybridization, fluorescence; somatic cell; gene amplification; fluorescence in situ hybridization; dna; gene rearrangement; molecular sequence data; neuroblastoma; nucleotide sequence; genes, myc; amplification; dna, neoplasm; base sequence; dna sequence; fatal outcome; southern blotting; abdominal neoplasms; rearrangement; mycn gene; blotting, southern; chromosome fragility; humans; human; male; priority journal; article |
| Journal Title: | Diagnostic Molecular Pathology |
| Volume: | 10 |
| Issue: | 2 |
| ISSN: | 1052-9551 |
| Publisher: | Lippincott Williams & Wilkins |
| Date Published: | 2001-06-01 |
| Start Page: | 100 |
| End Page: | 104 |
| Language: | English |
| DOI: | 10.1097/00019606-200106000-00005 |
| PUBMED: | 11385318 |
| PROVIDER: | scopus |
| DOI/URL: | |
| Notes: | Export Date: 21 May 2015 -- Source: Scopus |
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