Does the tuberous sclerosis complex include clivus chordoma? A case report

Börgel, Jan; Olschewski, Heidi; Reuter, Thomas; Miterski, Bianca; Epplen, Jörg T.

doi:10.1007/s004310000645

Cited by 30 publications

(31 citation statements)

References 4 publications

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“…The fi nal pathologic diagnosis was chordoma. She returned to the operating room for a neck dissection, a C4-C6 corpectomy, gross total resection of tumor, and a fusion with a Synthes Synex™ cage and plate from C3 to C7 ( fi g. 2 ) The postoperative MRI ( fi g. 3 ) showed no evidence of We present the case of a 16-year-old girl with a history of tuberous sclerosis. She had previously undergone a craniotomy to remove a hamartoma for seizures, which were now well controlled.…”

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confidence: 99%

“…Chordomas are rare, histologically benign but clinically malignant neoplasms that originate from notochordal remnants. They arise along the length of the axial spine, occurring most commonly in the sacrococcygeal (45%) and the clival (40%) regions [1][2][3] . Chordomas are destructive lesions that occur at any age, require a complete resection for a cure and have a high rate of recurrence even after total resection.…”

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confidence: 99%

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Cervical Chordoma in a Patient with Tuberous Sclerosis Presenting with Shoulder Pain

Storm

Magge²,

Kazahaya³

et al. 2007

Pediatr Neurosurg

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confidence: 99%

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confidence: 99%

Cervical Chordoma in a Patient with Tuberous Sclerosis Presenting with Shoulder Pain

Storm

Magge²,

Kazahaya³

et al. 2007

Pediatr Neurosurg

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“…We identified three reports of chordomas found in patients with tuberous sclerosis complex (TSC; Dutton and Singleton, 1975;Schroeder et al, 1987;Bö rgel et al, 2001). TSC [MIM 191100] is an autosomal dominant syndrome characterized by hamartomas in multiple organs, epilepsy, mental retardation, and behavioral problems, with a prevalence of 1 in 6,800 (Osborne et al, 1991).…”

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confidence: 96%

“…There have been three previous reports of chordomas in TSC patients. One was a sacrococcygeal chordoma (Dutton and Singleton, 1975), and two were clivus chordomas (Schroeder et al, 1987;Bö rgel et al, 2001), but no examination of somatic changes of the TSC genes was undertaken in those studies. Chordomas are clearly associated with TSC only rarely.…”

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confidence: 99%

“…Chordomas [MIM 215400] are rare tumors that originate from notochordal remnants along the axial skeleton in the sacrococcygeal/sacral (45%), sphenooccipital/clivus (40%), and spinal (15%) regions (Stepanek et al, 1998;Bö rgel et al, 2001). They are characterized by slow growth, local destruction of bone, extension into adjacent soft tissue, and, rarely, distant metastatic spread (Stepanek et al, 1998).…”

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

Lee-Jones

Aligianis

Davies

et al. 2004

Genes Chromosomes & Cancer

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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.

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Incidence and relative survival of chordomas

Smoll

Gautschi

Radovanović

et al. 2013

Cancer

168

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BACKGROUND: Chordomas are rare bone tumors arising from remnants of the embryonic notochord. METHODS: Data for this study were obtained from the Surveillance, Epidemiology, and End Results (SEER) Program of the National Cancer Institute to calculate the incidence, relative survival (RS), and standardized mortality ratio (SMR) of patients diagnosed with intracranial and extracranial chordomas and to assess the effects of age and sex on this disease. RESULTS: The overall incidence of extracranial and intracranial chordomas was 8.4 per 10 million population. The median overall survival of patients with chordoma patients was 7.7 years. The median survival was 7.7 years for male patients and 7.8 years for female patients. Younger patients (aged <40 years) survived longer compared with older patients (10-year RS, 68% vs 43%). The estimated age-standardized 5-year, 10-year, and 20-year RS rates was 72%, 48%, and 31%, respectively. The SMR in the overall cohort was 4.6 (95% confidence interval, 4.22-5.0) or 21.0 (95% confidence interval, 16.6-27.2) in young adult patients and 3.0 (95% confidence interval, 2.6-3.4) in elderly patients. CONCLUSIONS: The elderly had a more aggressive form of this disease; and, other than the incidence, sex did not influence outcome in this disease. The study of chordomas presents a good case for the contribution that the SMR can have on measuring the impact of a disease on a population of patients. Although the younger population has better survival rates, the impact (SMR) in the younger age groups is much higher than in older populations.

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Does the tuberous sclerosis complex include clivus chordoma? A case report

Cited by 30 publications

References 4 publications

Cervical Chordoma in a Patient with Tuberous Sclerosis Presenting with Shoulder Pain

Cervical Chordoma in a Patient with Tuberous Sclerosis Presenting with Shoulder Pain

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

Incidence and relative survival of chordomas

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