p73 has recently been identified as a candidate imprinted tumor suppressor gene in neuroblastoma. To determine the possible involvement of this gene in the pathogenesis of neuroblastoma, we analyzed allelic expression, screened for mutations and determined MYCN copy numbers in 31 primary neuroblastoma tumor samples. Interestingly, the gene was biallelically expressed in 50% (4/8) of informative neuroblastomas, which suggests that activation of the normally silenced allele of this gene plays an important role in the tumorigenesis of neuroblastoma. However, no tumor-specific mutations were identified although 15 polymorphisms were detected in this gene. We also detected a very strong association between a C91T polymorphism and MYCN copy number in this tumor. The T allele was detected in 8/17 (47%) neuroblastomas without MYCN amplifications but not detected in cases with MYCN amplifications (0/14). The biological significance of this association, however, is unknown. Overall the data suggest that p73 may play an important role in the pathogenesis of neuroblastoma but that the true tumor suppressor gene localized to this area still remains to be identified.

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