Chordoma Classification and external resources
MRI of extensive clival chordoma in 17-year old male patient, axial view. Tumor in the nasopharynx extending from nasal cavity to brainstem posteriorly is clearly visible.
ICD-O: M9370/3 OMIM 215400 DiseasesDB 31483 eMedicine med/2992 radio/169 orthoped/49 MeSH D002817
Chordoma is a rare slow-growing malignant neoplasm thought to arise from cellular remnants of the notochord. The evidence for this is the location of the tumors (along the neuraxis), the similar immunohistochemical staining patterns, and the demonstration that notochordal cells are preferentially left behind in the clivus and sacrococcygeal regions when the remainder of the notochord regresses during fetal life.
A small number of families have been reported in which multiple relatives have been affected by chordoma. In four of these families duplication of the brachyury gene was found to be responsible for causing chordoma.
There are currently no known genetic or environmental risk factors for chordoma
While most people with chordoma have no other family members with the disease, rare occurrences of multiple cases within families have been documented. This suggests that some people may be genetically predisposed to develop chordoma. Because genetic or hereditary risk factors for chordoma may exist, scientists at the National Cancer Institute are conducting a Familial Chordoma Study to search for genes involved in the development of this tumor.
There are three histological variants of chordoma: classical (or "conventional"), chondroid and dedifferentiated.
- The histological appearance of classical chordoma is of a lobulated tumor composed of groups of cells separated by fibrous septa. The cells have small round nuclei and abundant vacuolated cytoplasm, sometimes described as physaliferous (having bubbles or vacuoles).
- Chondroid chordomas histologically show features of both chordoma and chondrosarcoma.
- mTOR signaling is hyperactive in sporadic sacral chordomas: in one study 10 out of 10 sacral chordomas exhibited phosphorylation of Ribosomal protein s6 and EIF4EBP1 by immunohistochemistry
- In a study of 49 chordomas Akt, TSC2, and EIF4EBP1 were phosphorylated in 92%, 96% and 98% of cases, respectively.
- In a tissue microarray containing 21 chordomas Platelet-derived growth factor receptor-beta (PDGFR-b), epidermal growth factor receptor (EGFR), KIT (CD117) and HER2 were detected in 100%, 67%, 33% and 0% of cases, respectively.
- The CDKN2A (p16) and CDKN2B (p15) loci on chromosome 9p21 are frequently deleted in chordomas Another study found CDKN2A immunoreactivity in just 4% of cases.
- 62% of chordomas express the High Molecular Weight Melanoma Associated Antigen, also known as Chondroitin sulfate proteoglycan 4 (CSPG4) which has been the target of immune therapy.
- Recently, scientists have discovered that an inherited Gene duplication is responsible for the familial form of this disorder.
Prognosis and treatment
In most cases, complete surgical resection followed by radiation therapy offers the best chance of long-term control. Incomplete resection of the primary tumor makes controlling the disease more difficult and increases the odds of recurrence.
Chordomas are relatively radioresistant, requiring high doses of radiation to be controlled. The proximity of chordomas to vital neurological structures such as the brain stem and nerves limits the dose of radiation that can safely be delivered. Therefore, highly focused radiation such as proton therapy and carbon ion therapy are more effective than conventional x-ray radiation.
There are no drugs currently approved to treat chordoma, however a clinical trial conducted in Italy using the PDGFR inhibitor Imatinib demonstrated a modest response in some chordoma patients. The same group in Italy found that the combination of imatinib and sirolimus caused a response in several patients whose tumors progressed on imatinib alone.
Former NFL player Craig Heyward was treated for a chordoma in 1998. While initially thought to be successfully removed, the tumor returned in 2005, and caused Heyward's death in May 2006.
Josh Sommer, a student researcher at Duke University, created the Chordoma Foundation with his mother, Simone Sommer, after his diagnosis. The Chordoma Foundation has hosted three International Chordoma Research Workshops which together assembled over 100 leading scientists and physicians, many of whom were new to the field of chordoma research. The Foundation has also collected and distributed chordoma cell lines for research into the cancer's molecular cause and possible treatments.
Pro skateboarder Ray Underhill, a member of the Powell-Peralta Bones Brigade, battled chordoma for two years before succumbing to his disease in August 2008.
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- ^ Schwab JH, Boland PJ, Agaram NP, Socci ND, Guo T, O'Toole GC, Wang X, Ostroumov E, Hunter CJ, Block JA, Doty S, Ferrone S, Healey JH, Antonescu CR. (March 2009). "Chordoma and chondrosarcoma gene profile: implications for immunotherapy.". Cancer Immunology and Immunotherapy 58 (3): 339–49. doi:10.1007/s00262-008-0557-7. PMID 18641983.
- ^ http://www.nih.gov/news/health/oct2009/nci-04.htm
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- ^ Casali PG, Messina A, Stacchiotti S, et al. (2004). "Imatinib mesylate in chordoma". Cancer 101 (9): 2086–97. doi:10.1002/cncr.20618. PMID 15372471.
- ^ "The Chordoma Foundation History and Accomplishments". http://www.chordomafoundation.org/about/history.aspx. Retrieved 2008-02-20.
- Harfe, Brian A Mouse Model of Sarcoma ESUN (August 15, 2008)
- Chordoma Foundation - organization coordinating the development of new treatments for chordoma and supporting and informing patients
- Research Wiki on Chordoma (Chordoma Foundation)
- Images of Chordoma - mostly radiological (CT and MRI scans), one autopsy image
- Research information on chordoma (WikiGenes)
Connective tissue neoplasm: Osseous and Chondromatous tumors (ICD-O 9180–9269) (C40–C41/D16, 170/213) Diaphysis Metaphysis Epiphysis Other/ungroupedChordoma
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