Conventional Cytogenetic Analysis of Solid Tumor Abnormalities: A 25-Year Review of Proficiency Test Results from the College of American Pathologists/American College of Medical Genetics and Genomics Cytogenetics Committee
2024

Review of Cytogenetic Testing in Solid Tumors Over 25 Years

Sample size: 21 publication Evidence: high

Author Information

Author(s): Vanderscheldon Rachel K., Sukov William R., Gardner Juli-Anne, Rehder Catherine W., Levy Brynn, Velagaleti Gopalrao V., Toydemir Reha M., Tang Guilin, Boles Brittany, Cao Yang, Mixon Christopher, Zou Ying S., Astbury Caroline, Tsuchiya Karen D., Peterson Jess F., Heng Henry H.

Primary Institution: University of Pittsburgh

Hypothesis

How proficient are cytogenetic laboratories in identifying chromosome abnormalities in solid tumors over a 25-year period?

Conclusion

Cytogenetic laboratories have shown exceptional proficiency in identifying chromosome abnormalities in solid tumors, but challenges remain in reporting specific types of abnormalities.

Supporting Evidence

  • 21 solid tumor challenges were administered from 1999 to 2018.
  • All 21 cases reached 80% grading consensus for abnormality recognition.
  • Five cases (24%) failed to reach consensus for nomenclature reporting.
  • Challenges highlighted errors in reporting chromosomal abnormalities.
  • Conventional chromosome analysis remains important despite advancements in other methods.

Takeaway

This study looked at how well labs can find problems in the chromosomes of tumors over 25 years, showing they do a good job but still make some mistakes.

Methodology

A retrospective review of proficiency test results from 1999 to 2023, focusing on solid tumor chromosome analysis using G-banded karyograms.

Limitations

The study only included challenges related to solid tumors and excluded hematologic malignancies, which may limit the generalizability of the findings.

Digital Object Identifier (DOI)

10.3390/genes15121612

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