Heterogeneity of MYCN amplification in a child with stroma-rich neuroblastoma (ganglioneuroblastoma)

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 (ganglioneurobla...

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Bibliographic Details
Published in:Pediatric pathology & laboratory medicine 1997-11, Vol.17 (6), p.875-884
Main Authors: Lorenzana, A N, Zielenska, M, Thorner, P, Gerrie, B, Weitzman, S, Squire, J
Format: Article
Language:English
Subjects:
Blotting, Southern
Child, Preschool
DNA, Neoplasm - analysis
Female
Ganglioneuroblastoma - genetics
Ganglioneuroblastoma - pathology
Gene Amplification
Genes, myc - genetics
Heterozygote
Humans
In Situ Hybridization, Fluorescence
Microscopy, Fluorescence
Neoplasm Staging
Retroperitoneal Neoplasms - genetics
Retroperitoneal Neoplasms - pathology
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Summary: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 MYCN gene 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 MYCN gene amplification. After front-line chemotherapy failed, a total resection was performed. In this specimen, Southern blot demonstrated MYCN amplification (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 MYCN amplification in the undifferentiated sections of both tumor specimens but not in the differentiated ones. This is the first well-documented case report of heterogeneous MYCN amplification in a child with neuroblastoma. Because key therapeutic decisions are based on the presence of MYCN amplification, physicians diagnosing and treating children with neuroblastoma need to be aware of the possibility that MYCN amplification 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 MYCN amplification.
ISSN:1077-1042
1087-6529
DOI:10.1080/107710497174327