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

✍ Scribed by Lisa Lee-Jones; Irene Aligianis; Peter A. Davies; Ana Puga; Peter A. Farndon; Anat Stemmer-Rachamimov; Vijaya Ramesh; Julian R. Sampson

Publisher: John Wiley and Sons
Year: 2004
Tongue: English
Weight: 303 KB
Volume: 41
Category: Article
ISSN: 1045-2257
DOI: 10.1002/gcc.20052

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✦ Synopsis

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.

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