Clonal composition of human adamantinomatous craniopharyngiomas and somatic mutation analyses of the patched (PTCH), Gsα and Gi2α genes

J.C. Sarubi, H. Bei, Eric F. Adams, W.L. Boson, E. Friedman, K. Brandão, E. Kalapothakis, D. Miranda, F.L. Valle, M.S. Sarquis, L. de Marco

Research output: Contribution to journalArticle

Abstract

Craniopharyngioma is the most common childhood tumor and thought to arise from embryonic remnants of Rathke's pouch. The paucity of published data on the molecular basis of these tumors prompted us to examine 22 adamantinomatous craniopharyngiomas looking for genetic abnormalities. Using the X-linked polymorphic androgen receptor gene as a tool for X-chromosome inactivating analysis, we found that a subset of craniopharyngiomas are monoclonal and therefore are probably due to acquired somatic genetic defects. Thus, we investigated these tumours for mutations within three candidate genes, Gsα, Gi2α and patched (PTCH). Using single stranded conformational polymorphism (SSCP), denaturing gradient gel electrophoresis and direct sequencing, the presence of somatic mutations in these genes could not be demonstrated in any tumor. Our data indicate that a subset of craniopharyngiomas are monoclonal and the mutations in the PTCH, Gsα, and Gi2α contribute little if any to cranipharyngioma development.

Original languageEnglish
Pages (from-to)5-8
Number of pages4
JournalNeuroscience Letters
Volume310
Issue number1
DOIs
Publication statusPublished - Sep 2001

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Craniopharyngioma
Mutation
Genes
Neoplasms
Single-Stranded Conformational Polymorphism
Denaturing Gradient Gel Electrophoresis
Androgen Receptors
X Chromosome

Keywords

  • clonal
  • craniopharyngioma
  • patched
  • PTCH
  • mutation
  • Gs alpha
  • Gi2 alpha

Cite this

Sarubi, J.C. ; Bei, H. ; Adams, Eric F. ; Boson, W.L. ; Friedman, E. ; Brandão, K. ; Kalapothakis, E. ; Miranda, D. ; Valle, F.L. ; Sarquis, M.S. ; de Marco, L. / Clonal composition of human adamantinomatous craniopharyngiomas and somatic mutation analyses of the patched (PTCH), Gsα and Gi2α genes. In: Neuroscience Letters. 2001 ; Vol. 310, No. 1. pp. 5-8.
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Sarubi, JC, Bei, H, Adams, EF, Boson, WL, Friedman, E, Brandão, K, Kalapothakis, E, Miranda, D, Valle, FL, Sarquis, MS & de Marco, L 2001, 'Clonal composition of human adamantinomatous craniopharyngiomas and somatic mutation analyses of the patched (PTCH), Gsα and Gi2α genes', Neuroscience Letters, vol. 310, no. 1, pp. 5-8. https://doi.org/10.1016/S0304-3940(01)02048-1

Clonal composition of human adamantinomatous craniopharyngiomas and somatic mutation analyses of the patched (PTCH), Gsα and Gi2α genes. / Sarubi, J.C.; Bei, H.; Adams, Eric F.; Boson, W.L.; Friedman, E.; Brandão, K.; Kalapothakis, E.; Miranda, D.; Valle, F.L.; Sarquis, M.S.; de Marco, L.

In: Neuroscience Letters, Vol. 310, No. 1, 09.2001, p. 5-8.

Research output: Contribution to journalArticle

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