Sacrococcygeal chordomas in patients with tuberous sclerosis complex show somatic loss of TSC1 or TSC2

Lee-Jones, Lisa, Aligianis, Irene, Davies, Peter, Puga, Ana, Famdon, Peter, Stemmer-Rachamimov, Anat, Ramesh, Vijaya and Sampson, Julian (2004) Sacrococcygeal chordomas in patients with tuberous sclerosis complex show somatic loss of TSC1 or TSC2. Genes, Chromosomes and Cancer, 41 (1). pp. 80-85. ISSN 1045-2257

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Chordomas are rare sacrococcygeal/sacral, sphenooccipital/clivus, and spinal tumors whose molecular etiology remains relatively understudied. As several anecdotal reports had described chordomas in individuals with tuberous sclerosis complex (TSC), a multisystem hamartoma syndrome, we hypothesized that the genes that cause TSC may have an etiological role in chordomas. In two cases of sacrococcygeal chordomas in individuals with TSC, one with a germ-line TSC2 mutation and the other with a germ-line TSC1 mutation, we confirmed somatic inactivation of the corresponding wild-type allele by loss of heterozygosity analysis and immunohistochemistry. These data provide the first evidence of a pathogenic role by TSC genes in sacrococcygeal chordomas.

Item Type: Article
Additional Information: An international collaboration which led to an Invited Lecture at the Tuberous Sclerosis Society International Research Conference, Cambridge (2004). Research demonstrated the role of TSC1 and TSC2 in chordomas in individuals with the genetic syndrome Tuberous Sclerosis Complex, and suggested they may be a rarer manifestation of the disorder.
Subjects: A300 Clinical Medicine
Department: Faculties > Health and Life Sciences > Applied Sciences
Depositing User: EPrint Services
Date Deposited: 23 Dec 2008 10:20
Last Modified: 24 Oct 2017 11:28

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