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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
Publishing year: 2000
Language: English
Pages: 943-949
Publication/Series: International Journal of Oncology
Volume: 16
Issue: 5
Document type: Journal article
Publisher: D.A. Spandidos

Abstract 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.

Keywords

  • Cancer and Oncology

Other

Published
  • ISSN: 1019-6439
Håkan Axelson
E-mail: hakan.axelson [at] med.lu.se

Professor

Division of Translational Cancer Research

+46 46 222 64 34

MV 404 A31A2

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