| Autor: |
Lorenzana, Adonis N., Zielenska, Maria, Thorner, Paul, Gerrie, Blair, Squire, Jeremy |
| Zdroj: |
Fetal and Pediatric Pathology; 1997, Vol. 17 Issue: 6 p875-883, 9p |
| Abstrakt: |
Amplification of MYCN portends rapid tumor progression and poor prognosis in neuroblastoma. MYCN copy number has been described as homogeneous within a tumor and congruent in primary tumor and metastasis. We report a child with stage III favorable histology stroma-rich neuroblastoma (ganglioneuroblastoma) and a poor outcome with an apparent change in MYCNgene amplification by Southern blot. Initial biopsy revealed a ganglioneuroblastoma with predominance of differentiating cells designated as neuroblastoma, stroma-rich, intermixed (Shimada). Southern blot failed to demonstrate MYCNgene amplification. After front-line chemotherapy failed, a total resection was performed. In this specimen, Southern blot demonstrated MYCNamplification (15–20 copies) in the undifferentiated component and no amplification in the differentiated. Fluorescence in situ hybridization (FISH) analysis performed retrospectively on both tumor biopsies demonstrated MYCNamplification in the undifferentiated sections of both tumor specimens but not in the differentiated ones. This is the first well-documented case report of heterogeneous MYCNamplification in a child with neuroblastoma. Because key therapeutic decisions are based on the presence of MYCNamplification, physicians diagnosing and treating children with neuroblastoma need to be aware of the possibility that MYCNamplification may be heterogeneous within a tumor and may be missed using techniques based on pooled DNA such as Southern blotting. FISH may be a preferable method for determining MYCNamplification. |
| Databáze: |
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