title: Patched 2, located in 1p32-34, is not mutated in high stage neuroblastoma tumors.
abstract: 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.
authors.affiliation: Department of Laboratory Medicine, Molecular Medicine, Lund University, University Hospital MAS, Malmö, Sweden.
authors.forename: A
authors.initials: A
authors.lastname: Jögi
authors.forename: F
authors.initials: F
authors.lastname: Abel
authors.forename: R M
authors.initials: RM
authors.lastname: Sjöberg
authors.forename: R
authors.initials: R
authors.lastname: Toftgård
authors.forename: P G
authors.initials: PG
authors.lastname: Zaphiropoulos
authors.forename: S
authors.initials: S
authors.lastname: Påhlman
authors.forename: T
authors.initials: T
authors.lastname: Martinsson
authors.forename: H
authors.initials: H
authors.lastname: Axelson
mesh_terms: D002851:Chromatography, High Pressure Liquid; D002878:Chromosomes, Human, Pair 1; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D009447:Neuroblastoma / Q000235:genetics* / Q000473:pathology; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D000072082:Patched-2 Receptor; D011956:Receptors, Cell Surface
chemical_list: D008565:Membrane Proteins; C000606236:PTCH1 protein, human; C000606238:PTCH2 protein, human; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D000072082:Patched-2 Receptor; D011956:Receptors, Cell Surface