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Spektrum der Augenheilkunde

, Volume 27, Issue 6, pp 286–291 | Cite as

Genetic analysis of uveal melanoma by array comparative genomic hybridization before and after radiotherapy

  • Werner WackernagelEmail author
  • Lisa Tarmann
  • Christoph Mayer
  • Gerald Langmann
  • Andreas Wedrich
original article

Summary

Background

Genetic analysis of choroidal melanoma is frequently used to estimate the risk of metastatic spread of the tumor. Obtaining a biopsy for genetic analysis, however, can be difficult and sometimes unsuccessful. We evaluated the feasibility and accuracy of genetic testing using array comparative genomic hybridization (CGH) after radiotherapy, from tumor samples obtained by endoresection or after secondary enucleation.

Material and methods

Fifteen choroidal melanoma samples obtained after radiotherapy (Ruthenium-106 plaque brachytherapy or Gamma-Knife radiosurgery) were analyzed by array CGH to detect chromosomal aberrations (monosomy 3 and trisomy 8q), and the results were compared with pre-irradiation findings in five cases.

Results

Array CGH was successfully performed in all 15 cases. Time from radiotherapy to obtaining the sample for cytogenetic testing was between 14 and 879 days. Results of post-radiotherapy genetic analysis did not differ from pre-radiotherapy findings.

Conclusion

Post-radiation CGH appears to be a promising option for prognostic testing if a first biopsy before radiotherapy failed or was not performed. It could be useful to avoid an additional surgical procedure before radiotherapy if vitrectomy or endoresection is planned after radiotherapy.

Keywords

Choroidal melanoma Genetic testing CGH Radiotherapy Endoresection 

Zusammenfassung

Hintergrund

Die genetische Untersuchung von Aderhautmelanomen ist eine zunehmend häufiger eingesetzte Methode, um das Risiko der Metastasenentwicklung bei PatientInnen mit Aderhautmelanomen einzuschätzen. Die Gewinnung einer Gewebeprobe zur Durchführung der Untersuchung ist jedoch manchmal schwierig und nicht in allen Fällen erfolgreich. Wir untersuchten die Durchführbarkeit und Genauigkeit der genetischen Untersuchung von Aderhautmelanomen mittels array comparative genomic hybridization (CGH) nach Strahlentherapie, an mittels Endoresektion oder nach Enukleation gewonnenem Tumormaterial.

Material und Methode

Fünfzehn Gewebeproben von strahlentherapeutisch behandelten Aderhautmelanomen wurden mittels array-CGH auf Veränderungen an den Chromosomen 3 und 8 untersucht (Monosomie 3, Trisomie 8q). Die Ergebnisse wurden mit den in fünf Fällen vorliegenden Resultaten der genetischen Untersuchung vor Bestrahlung verglichen.

Resultate

Die array CGH konnte in allen 15 Fällen nach Bestrahlung erfolgreich durchgeführt werden. Die Zeitspanne von der Bestrahlung bis zur genetischen Untersuchung lag zwischen 14 und 879 Tagen. Die Resultate der genetischen Untersuchung nach Bestrahlung unterschieden sich nicht von den Ergebnissen der in 5 Fällen vorliegenden Ergebnissen vor der Bestrahlung.

Schlußfolgerung

Die array CGH von Aderhautmelanomen nach Strahlentherapie erscheint eine vielversprechende Option zur prognostischen Unteruchung in den Fällen zu sein, in denen eine Biopsie vor Bestrahlung nicht durchgeführt wurde oder nicht erfolgreich war. Im Falle einer geplanten Endoresektion nach Bestrahlung, könnte auf einen zusätzlichen Eingiff zu Biopsie vor der Bestrahlung verzichtet werden.

Notes

Acknowledgments

We thank Anna Obenauf, PhD, from Department of Human Genetics, Medical University Graz, for the support in genetic analysis of the samples.

Conflict of interest

Werner Wackernagel, Lisa Tarmann, Christoph Mayer, Gerald Langmann, and Andreas Wedrich declare that they have no conflict of interest.

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Copyright information

© Springer-Verlag Wien 2013

Authors and Affiliations

  • Werner Wackernagel
    • 1
    Email author
  • Lisa Tarmann
    • 1
  • Christoph Mayer
    • 1
  • Gerald Langmann
    • 1
  • Andreas Wedrich
    • 1
  1. 1.Department of OphthalmologyMedical University GrazGrazAustria

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