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Patched 2, located in 1p32-34, is not mutated in high stage neuroblastoma tumors

Jögi, Annika LU ; Abel, F; Sjoberg, R M; Toftgard, R; Zaphiropoulos, P G; Påhlman, Sven LU ; Martinsson, T and Axelson, Håkan LU (2000) In International Journal of Oncology 16(5). p.943-949
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... (More)
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. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
International Journal of Oncology
volume
16
issue
5
pages
943 - 949
publisher
D.A. Spandidos
external identifiers
  • pmid:10762630
  • scopus:0034183777
ISSN
1019-6439
language
English
LU publication?
yes
id
58d6688c-5671-4249-8151-3927ed68f842 (old id 1116263)
date added to LUP
2008-07-01 11:02:53
date last changed
2017-01-01 07:14:50
@article{58d6688c-5671-4249-8151-3927ed68f842,
  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.},
  author       = {Jögi, Annika and Abel, F and Sjoberg, R M and Toftgard, R and Zaphiropoulos, P G and Påhlman, Sven and Martinsson, T and Axelson, Håkan},
  issn         = {1019-6439},
  language     = {eng},
  number       = {5},
  pages        = {943--949},
  publisher    = {D.A. Spandidos},
  series       = {International Journal of Oncology},
  title        = {Patched 2, located in 1p32-34, is not mutated in high stage neuroblastoma tumors},
  volume       = {16},
  year         = {2000},
}