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Håkan Axelson

Håkan Axelson

Research team manager

Håkan Axelson

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

Author

  • Annika Jögi
  • F Abel
  • R M Sjoberg
  • R Toftgard
  • P G Zaphiropoulos
  • Sven Påhlman
  • T Martinsson
  • Håkan Axelson

Summary, in English

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.

Department/s

  • Department of Translational Medicine

Publishing year

2000

Language

English

Pages

943-949

Publication/Series

International Journal of Oncology

Volume

16

Issue

5

Document type

Journal article

Publisher

Spandidos Publications

Topic

  • Cancer and Oncology

Status

Published

ISBN/ISSN/Other

  • ISSN: 1019-6439