Genetic characterization of skull base chondrosarcoma and chordoma

2015 Fiscal Year Final Research Report

• Project/Area Number: 26861166
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Neurosurgery
• Research Institution: Keio University
• Principal Investigator: Kitamura Yohei 慶應義塾大学, 医学部, 共同研究員 (30445382)
• Project Period (FY): 2014-04-01 – 2016-03-31
• Keywords: 頭蓋底軟骨肉腫 / 脊索腫 / IDH1/2 / brachyuryタンパク質

Outline of Final Research Achievements

Although chondrosarcomas rarely arise in the skull base, chondrosarcomas and chordomas are the two major malignant bone neoplasms occurring at this location. The distinction of these two tumors is important, but it is occasionally problematic because of radiological and histological overlap. We analyzed seven skull base chondrosarcoma specimens for chromosomal copy number alterations (CNAs), isocitrate dehydrogenase (IDH)1/2 mutations and brachyury expression. We detected CNAs in six of the seven cases, including chromosomal gains of 8q21.1, 19. Mutation of IDH1 was found with a high frequency, of which R132S was most frequently mutated. Immunohistochemical staining for brachyury was negative in all cases. To the best of our knowledge, this is the first whole-genome study of an SBSC case series. Our findings suggest that these tumors are molecularly consistent with a subset of conventional central chondrosarcomas and different from skull base chordomas.

Free Research Field

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