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

    Lee-Jones, L ORCID logoORCID: https://orcid.org/0000-0003-1255-3545, Aligianis, I, Davies, PA, Puga, A, Farndon, PA, Stemmer-Rachamimov, A, Ramesh, V and Sampson, JR (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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    Abstract

    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
    Peer-reviewed: Yes
    Date Deposited: 25 Jul 2022 09:52
    Publisher: Wiley
    Additional Information: This is the peer reviewed version of the following article: Lee-Jones, L., Aligianis, I., Davies, P.A., Puga, A., Farndon, P.A., Stemmer-Rachamimov, A., Ramesh, V. and Sampson, J.R. (2004), Sacrococcygeal chordomas in patients with tuberous sclerosis complex show somatic loss of TSC1 or TSC2. Genes Chromosom. Cancer, 41: 80-85., which has been published in final form at https://doi.org/10.1002/gcc.20052. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Use of Self-Archived Versions. This article may not be enhanced, enriched or otherwise transformed into a derivative work, without express permission from Wiley or by statutory rights under applicable legislation. Copyright notices must not be removed, obscured or modified. The article must be linked to Wiley’s version of record on Wiley Online Library and any embedding, framing or otherwise making available the article or pages thereof by third parties from platforms, services and websites other than Wiley Online Library must be prohibited.
    Divisions: Faculties > Science and Engineering
    URI: https://e-space.mmu.ac.uk/id/eprint/629769
    DOI: https://doi.org/10.1002/gcc.20052
    ISSN 1045-2257

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