The retinoblastoma gene is involved in malignant progression of astrocytomas

John W. Henson, Bernd L. Schnitker, Katia M. Correa, Andreas von Deimling, Frank Fassbender, Hong‐Ji ‐J Xu, William F. Benedict, David W. Yandell, David N. Louis

Research output: Contribution to journalArticlepeer-review

205 Scopus citations


Loss of chromosome 13q occurs in up to 50% of human astrocytomas, suggesting the presence of an astrocytoma tumor suppressor gene on that chromosome. To determine whether the retinoblastoma susceptibility gene (Rb) on 13q 14 contributes to the formation of astrocytomas, we examined 85 tumors for loss of heterozygosity (LOH) at the intragenic Rb 1.20 locus. LOH was detercted in 16 of 54 informative high‐grade astrocytomas (30%), but was not detected in 12 low‐grade gliomas. Deletion mapping with flanking markers on 13q revealed that the Rb 1.20 region was preferentially targeted by the deletions. Tumors with LOH at Rb 1.20 were examined for mutations in the remaining Rb allele using single‐strand conformational polymorphism (SSCP) analysis and direct DNA sequencing. Mutations were detected in exon 8 (1 tumor), exon 24 (2 tumors), and intron 24 (1 tumor). Rb protein expression, as assessed by immunohistochemistry, was altered in 3 of 9 cases with LOH and in 1 tumor without LOH. Our results demonstrate that Rb inactivation contributes to the formation of high‐grade astrocytomas, and therefore implicate a second, known tumor suppressor gene in astrocytoma tumorigenesis.

Original languageEnglish (US)
Pages (from-to)714-721
Number of pages8
JournalAnnals of Neurology
Issue number5
StatePublished - Nov 1994
Externally publishedYes

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology


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