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Related Concept Videos

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Metastasis

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Metastasis is the spread of cancer cells from the original site to distant locations in the body. Cancer cells can spread via blood vessels (hematogenous) as well as lymph vessels in the body.
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Updated: Dec 31, 2025

Primary Orthotopic Glioma Xenografts Recapitulate Infiltrative Growth and Isocitrate Dehydrogenase I Mutation
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Molecular and clonal evolution in recurrent metastatic gliosarcoma.

Kevin J Anderson1, Aaron C Tan2,3, Jonathon Parkinson2,4,5

  • 1The Jackson Laboratory for Genomic Medicine, Farmington, Connecticut 06085, USA.

Cold Spring Harbor Molecular Case Studies
|January 4, 2020
PubMed
Summary
This summary is machine-generated.

Molecular evolution of gliosarcoma, a glioblastoma subtype, reveals that metastasis can occur late. Whole-genome sequencing of recurrent tumors and bone metastasis informed clonal relationships and tumor evolution in this aggressive brain cancer.

Keywords:
IDHglioblastomagliomaneoplasm of the nervous system

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Area of Science:

  • Neuro-oncology
  • Cancer Genomics
  • Molecular Evolution

Background:

  • Gliosarcoma, a mesenchymal glioblastoma (GBM) subtype, presents unique challenges in treatment and understanding tumor progression.
  • This study investigates the molecular evolution of a rare IDH-wildtype gliosarcoma case with multiple recurrences and extracranial metastasis.

Observation:

  • A 37-year-old woman with gliosarcoma experienced two intracranial recurrences and subsequent pelvic bone metastasis.
  • Whole-genome sequencing was performed on intracranial tumors and the bone metastasis to analyze clonal evolution and metastatic origins.

Findings:

  • Shared alterations in GBM driver genes (TP53, NF1, RB1) and CDKN2A deletion were identified across tumor instances.
  • Whole-genome doubling was observed in the first recurrence and the extracranial metastasis.
  • Subclonal reconstruction suggested parallel evolution of recurrent tumors, with metastasis largely originating from the first recurrence.

Implications:

  • Metastasis in glioma can be a late-stage event, challenging current understanding of glioma progression.
  • Detailed molecular profiling of recurrent and metastatic tumors provides insights into treatment resistance and disease dissemination.
  • Understanding clonal evolution is crucial for developing targeted therapies for aggressive gliomas like gliosarcoma.