5272

SERPINB9

CAP-3|CAP3|PI9;serpin peptidase inhibitor, clade B (ovalbumin), member 9;SERPINB9;serpin peptidase inhibitor, clade B (ovalbumin), member 9

PI-9|cytoplasmic antiproteinase 3|peptidase inhibitor 9|protease inhibitor 9 (ovalbumin type)|serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 9|serpin B9|serpin peptidase inhibitor, clade B, member 9

6p25

protein-coding

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 andamplification 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.