Patched 2, located in 1p32-34, is not mutated in high stage neuroblastoma tumors.
- A Jögi
- F Abel
- R M Sjöberg
- R Toftgård
- P G Zaphiropoulos
- S Påhlman
- T Martinsson
- H Axelson
Affiliations: Department of Laboratory Medicine, Molecular Medicine, Lund University, University Hospital MAS, Malmö, Sweden.
- Published online on: May 1, 2000 https://doi.org/10.3892/ijo.16.5.943
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Neuroblastoma is a childhood malignancy originating from cells of the sympathetic nervous system, exhibiting a marked diversity in outcome, with spontaneous regression at one end of the spectrum and severe disease and death at the other end. Features associated with frequent recurrence, a poor prognosis, and high tumor stage are loss of heterozygosity in the distal region of chromosome 1p and amplification of the N-myc gene. Patched 2 is a novel homologue to the tumor suppressor gene Patched 1, and has been mapped to 1p32-34, a part of chromosome 1 frequently deleted in high stage neuroblastoma tumors. RT-PCR analysis of 9 neuroblastoma cell lines showed expression of both Patched 1 and 2. We analyzed 14, mainly high stage, neuroblastoma tumors for mutations in the Patched 2 gene with denaturing HPLC using the Wave DNA fragment analysis system. In four tumor samples variations were detected within the coding sequence, and two of them gave rise to amino-acid substitutions. These variations were, however, also detected in normal DNA from the respective patients. We conclude that Patched 2 is expressed, but not frequently mutated, in high stage neuroblastomas and is therefore not likely to be involved in the genesis of this tumor.