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

Storm, Phillip B.; Magge, Suresh N.; Kazahaya, Ken; Sutton, Leslie N.

doi:10.1159/000098396

Cited by 15 publications

(12 citation statements)

References 16 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The absence of gene deregulation upstream of mTOR, in the presence of PDGFRB and EGFR ligands, supports the hypothesis that the activation is ligand-dependent and that combined RTK and mTOR/MAPK inhibitors may lead to better disease control than single agents [49]. Besides, a role for mTOR inhibitors could be foreseen in the rare cases of chordomas arising in TSC [6][7][8][9][10], this syndrome being marked by an inherited inactivation of tuberous sclerosis complex 1 or 2 (TSC1/TSC2), which is responsible for constitutive activation of the mTOR pathway. In fact, the activity of rapamycin was proven in other TSC-related neoplastic conditions, like lymphangiomyomatosis (LAM), angiomyolipoma, and subependymal giant cell astrocytomas (SEGA) [64][65][66], while no data are available in TSCrelated chordoma.…”

Section: Rtk Down-signalingsupporting

confidence: 57%

“…Median age is more than 60 years, but especially skull base presentations may affect children and young adults. Chordomas are generally sporadic, but there are familial cases and those arising in patients with tuberous sclerosis complex (TSC) [3][4][5][6][7][8][9][10]. Chordomas stem from the remnants of notochord, and are made up by epithelioid cells, with a dual epithelial-mesenchymal differentiation, immersed in a myxoid stroma, with immunohistochemistry that is typically positive for EMA, cytokeratin, S100, and brachyury.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Systemic Therapy Options for Unresectable and Metastatic Chordomas

Stacchiotti

Casali

2011

Curr Oncol Rep

View full text Add to dashboard Cite

Chordoma is an exceedingly rare tumor, marked by a slow growth rate. Surgery is the treatment of choice, but the most frequent sites of origin (spine and skull base) make treatment of primary disease challenging. Local relapses affect more than 50% of cases, with a minority of patients being cured by further surgery. Furthermore, metastases occur in at least 20% of patients. For residual or recurrent disease, high-dose radiation therapy may be indicated. Radiation therapy is currently the preferred local treatment when surgery is problematic, exploiting most recent techniques, including proton beams and carbon ions. However, systemic therapy is needed in patients non-amenable to surgery and/or radiation therapy. We reviewed systemic treatments currently available, and targets possibly druggable in the future in this orphan disease.

show abstract

Section: Rtk Down-signalingsupporting

confidence: 57%

Section: Introductionmentioning

confidence: 99%

Systemic Therapy Options for Unresectable and Metastatic Chordomas

Stacchiotti

Casali

2011

Curr Oncol Rep

View full text Add to dashboard Cite

show abstract

“…[50][51][52] AKT/PI3K/mTOR Identification of the PI3K/AKT/mTOR pathway dysfunction in chordomas came out of work done with tuberous sclerosis patients who were found to develop chordomas. [53][54][55][56][57] Tuberous sclerosis complex (TSC) is characterized by inactivating germline mutations in the TSC genes that encode the proteins hamartin (TSC1) and tuberin (TSC2). TSC patients typically develop numerous growths called harmatomas.…”

Section: Downstream Pathwaysmentioning

confidence: 99%

The Next Step: Innovative Molecular Targeted Therapies for Treatment of Intracranial Chordoma Patients

et al. 2011

View full text Add to dashboard Cite

Recent findings characterizing the molecular biology of chordoma have illuminated multiple possible targets for future clinical trials. The availability of inhibitors against these aberrant pathways makes clinical trials with chordoma both feasible and immediately realizable. Additionally, we emphasize the rationale for combination therapy when implementing molecular therapy in chordoma and other cancers.

show abstract

“…3,4 This case is, to our knowledge, the first giant cell tumor of the spinal bone associated with TS. Moreover, an aneurysmal bone cyst was associated with the tumor; the relationship between giant cell tumor and aneurysmal bone cyst has also been described also by other authors, who found a non-negligible rate of local tumor recurrence and lung metastasis, suggesting that postoperative radiotherapy should be performed on the surgical field.…”

Section: Discussionmentioning

confidence: 80%

Spinal giant cell tumor in tuberous sclerosis: Case report and review of the literature

Fraioli¹,

Lecce²,

Fraioli³

et al. 2013

The Journal of Spinal Cord Medicine

View full text Add to dashboard Cite

Background: Patients affected by tuberous sclerosis (TS) have a greater incidence of tumors than the healthy population. Spinal tumours in TS are reported very rarely and consist mainly of sacrococcygeal and cervical chordomas. Method: Case report. Findings: A 21-year-old man, affected by TS, presented a spinal dorsal T2 tumor that caused medullary compression. He underwent decompressive laminectomy and microsurgical excision of a giant cell tumor and an associated aneurysmal bone cyst. Postoperative hypofractionated radiotherapy was performed on the surgical field. At 2.4 years of follow-up the patient reported total recovery of neurological deficits and was free from tumor recurrence. Conclusion: Considering this association, which is the first reported in the literature, spinal magnetic resonance imaging with gadolinium should be performed at the onset of spinal pain in patients affected by TS.

show abstract

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

Cited by 15 publications

References 16 publications

Systemic Therapy Options for Unresectable and Metastatic Chordomas

Systemic Therapy Options for Unresectable and Metastatic Chordomas

The Next Step: Innovative Molecular Targeted Therapies for Treatment of Intracranial Chordoma Patients

Spinal giant cell tumor in tuberous sclerosis: Case report and review of the literature

Contact Info

Product

Resources

About