Genetic characterization of skull base chondrosarcomas

Hiroki Kanamori, Yohei Kitamura, Tokuhiro Kimura, Kazunari Yoshida, Hikaru Sasaki

Research output: Contribution to journalArticle

7 Citations (Scopus)

Abstract

OBJECT: Although chondrosarcomas rarely arise in the skull base, chondrosarcomas and chordomas are the 2 major malignant bone neoplasms occurring at this location. The distinction of these 2 tumors is important, but this distinction is occasionally problematic because of radiological and histological overlap. Unlike chordoma and extracranial chondrosarcoma, no case series presenting a whole-genome analysis of skull base chondrosarcomas (SBCSs) has been reported. The goal of this study is to clarify the genetic characteristics of SBCSs and contrast them with those of chordomas.

METHODS: The authors analyzed 7 SBCS specimens for chromosomal copy number alterations (CNAs) using comparative genomic hybridization (CGH). They also examined IDH1 and IDH2 mutations and brachyury expression.

RESULTS: In CGH analyses, the authors detected CNAs in 6 of the 7 cases, including chromosomal gains of 8q21.1, 19, 2q22-q32, 5qcen-q14, 8q21-q22, and 15qcen-q14. Mutation of IDH1 was found with a high frequency (5 of 7 cases, 71.4%), of which R132S was most frequently mutated. No IDH2 mutations were found, and immunohistochemical staining for brachyury was negative in all cases.

CONCLUSIONS: To the best of the authors' knowledge, this is the first whole-genome study of an SBSC case series. Their findings suggest that these tumors are molecularly consistent with a subset of conventional central chondrosarcomas and different from skull base chordomas.

Original languageEnglish
Pages (from-to)1036-1041
Number of pages6
JournalJournal of Neurosurgery
Volume123
Issue number4
DOIs
Publication statusPublished - 2015 Oct 1

Fingerprint

Chondrosarcoma
Skull Base
Chordoma
Comparative Genomic Hybridization
Mutation
Genome
Bone Neoplasms
Neoplasms
Staining and Labeling

Keywords

  • AML = acute myeloid leukemia
  • brachyury
  • CGH = comparative genomic hybridization
  • chordoma
  • CNA = copy number alteration
  • comparative genomic hybridization
  • DIG = digoxigenin
  • DOP-PCR = degenerate oligonucleotide primed-polymerase chain reaction
  • EMA = epithelial membrane antigen
  • IDH1
  • IDH2
  • oncology
  • PFS = progression-free survival
  • SBCS = skull base chondrosarcoma
  • skull base chondrosarcomas

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Genetic characterization of skull base chondrosarcomas. / Kanamori, Hiroki; Kitamura, Yohei; Kimura, Tokuhiro; Yoshida, Kazunari; Sasaki, Hikaru.

In: Journal of Neurosurgery, Vol. 123, No. 4, 01.10.2015, p. 1036-1041.

Research output: Contribution to journalArticle

Kanamori, Hiroki ; Kitamura, Yohei ; Kimura, Tokuhiro ; Yoshida, Kazunari ; Sasaki, Hikaru. / Genetic characterization of skull base chondrosarcomas. In: Journal of Neurosurgery. 2015 ; Vol. 123, No. 4. pp. 1036-1041.
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AU - Kanamori, Hiroki

AU - Kitamura, Yohei

AU - Kimura, Tokuhiro

AU - Yoshida, Kazunari

AU - Sasaki, Hikaru

PY - 2015/10/1

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N2 - OBJECT: Although chondrosarcomas rarely arise in the skull base, chondrosarcomas and chordomas are the 2 major malignant bone neoplasms occurring at this location. The distinction of these 2 tumors is important, but this distinction is occasionally problematic because of radiological and histological overlap. Unlike chordoma and extracranial chondrosarcoma, no case series presenting a whole-genome analysis of skull base chondrosarcomas (SBCSs) has been reported. The goal of this study is to clarify the genetic characteristics of SBCSs and contrast them with those of chordomas.METHODS: The authors analyzed 7 SBCS specimens for chromosomal copy number alterations (CNAs) using comparative genomic hybridization (CGH). They also examined IDH1 and IDH2 mutations and brachyury expression.RESULTS: In CGH analyses, the authors detected CNAs in 6 of the 7 cases, including chromosomal gains of 8q21.1, 19, 2q22-q32, 5qcen-q14, 8q21-q22, and 15qcen-q14. Mutation of IDH1 was found with a high frequency (5 of 7 cases, 71.4%), of which R132S was most frequently mutated. No IDH2 mutations were found, and immunohistochemical staining for brachyury was negative in all cases.CONCLUSIONS: To the best of the authors' knowledge, this is the first whole-genome study of an SBSC case series. Their findings suggest that these tumors are molecularly consistent with a subset of conventional central chondrosarcomas and different from skull base chordomas.

AB - OBJECT: Although chondrosarcomas rarely arise in the skull base, chondrosarcomas and chordomas are the 2 major malignant bone neoplasms occurring at this location. The distinction of these 2 tumors is important, but this distinction is occasionally problematic because of radiological and histological overlap. Unlike chordoma and extracranial chondrosarcoma, no case series presenting a whole-genome analysis of skull base chondrosarcomas (SBCSs) has been reported. The goal of this study is to clarify the genetic characteristics of SBCSs and contrast them with those of chordomas.METHODS: The authors analyzed 7 SBCS specimens for chromosomal copy number alterations (CNAs) using comparative genomic hybridization (CGH). They also examined IDH1 and IDH2 mutations and brachyury expression.RESULTS: In CGH analyses, the authors detected CNAs in 6 of the 7 cases, including chromosomal gains of 8q21.1, 19, 2q22-q32, 5qcen-q14, 8q21-q22, and 15qcen-q14. Mutation of IDH1 was found with a high frequency (5 of 7 cases, 71.4%), of which R132S was most frequently mutated. No IDH2 mutations were found, and immunohistochemical staining for brachyury was negative in all cases.CONCLUSIONS: To the best of the authors' knowledge, this is the first whole-genome study of an SBSC case series. Their findings suggest that these tumors are molecularly consistent with a subset of conventional central chondrosarcomas and different from skull base chordomas.

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KW - CNA = copy number alteration

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KW - DIG = digoxigenin

KW - DOP-PCR = degenerate oligonucleotide primed-polymerase chain reaction

KW - EMA = epithelial membrane antigen

KW - IDH1

KW - IDH2

KW - oncology

KW - PFS = progression-free survival

KW - SBCS = skull base chondrosarcoma

KW - skull base chondrosarcomas

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