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Chromosomal abnormalities in two chordomas.

Z Gibas¹, M Miettinen, A A Sandberg

¹Department of Pathology, Thomas Jefferson University, Philadelphia, Pennsylvania 19107.

Cancer Genetics and Cytogenetics

|February 1, 1992

Summary

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Cytogenetic analysis revealed clonal chromosome abnormalities in two sacral chordomas. Consistent involvement of chromosome 21q22 in translocations suggests a specific association with chordoma development.

Area of Science:

Oncology
Genetics
Cytogenetics

Background:

Chordomas are rare bone tumors arising from notochordal remnants.
Understanding the genetic basis of chordomas is crucial for developing targeted therapies.

Observation:

Two sacral chordoma samples underwent detailed cytogenetic analysis.
Both tumors exhibited clonal chromosome abnormalities, including numerical and structural aberrations.

Findings:

The hypodiploid tumor showed a der(21)t(1;21)(q21;q22) translocation.
The near-triploid tumor displayed numerous rearrangements, including a der(21)t(2;21)(q11;q22).
Both translocations involved the specific chromosome band 21q22, suggesting a potential role in chordoma pathogenesis.

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Implications:

The consistent involvement of 21q22 in chordoma translocations points to a specific chromosomal region associated with this tumor type.
Protooncogenes ETS2 and ERG are located at 21q22, warranting further investigation into their role in chordoma.
These findings may guide future research into the molecular mechanisms and potential therapeutic targets for chordoma.