Cytogenetic analysis of uveal melanoma. Consistent occurrence of monosomy 3 and trisomy 8q

Cancer. 1993 Feb 1;71(3):811-9. doi: 10.1002/1097-0142(19930201)71:3<811::aid-cncr2820710325>;2-f.


Background: The genetic alterations associated with the pathogenesis of uveal melanoma have not been determined. To address this issue, the authors performed a prospective cytogenetic study of 35 uveal melanomas, including 23 primary untreated tumors and 12 tumors that were removed after local radiation therapy.

Methods: Representative tumor tissue was processed by established methods for histopathologic and cytogenetic studies. Tumor cells were disaggregated and established in short-term culture; metaphases were prepared by standard methods for karyotypic analysis.

Results: Successful analyses were achieved in 27 of the tumor specimens, including 20 of 23 tumors not exposed to radiation and 7 of 12 tumors exposed to radiation. All of the tumors had an abnormal karyotype. Recurrent chromosomal abnormalities detected in the tumors not exposed to radiation included monosomy 3 (13 of 20), trisomy 8 or 8q (11 of 20), loss of a sex chromosome (10 of 20), and loss of 6q (8 of 20). The tumors previously exposed to radiation were characterized by more complex changes, with monosomy 3 and trisomy 8q detected in three cases each.

Conclusions: Uveal melanoma is characterized by monosomy 3 and trisomy 8q in most cases. These findings, which are supported by data from other investigators, provide compelling evidence that loss of gene sequences on chromosome 3 and duplication of gene sequences on chromosome 8 are implicated in the genetic alterations associated with uveal melanoma and offer a basis for additional molecular genetic investigations.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Brachytherapy
  • Chromosomes, Human, Pair 3*
  • Chromosomes, Human, Pair 8*
  • Eye Enucleation
  • Female
  • Gold Radioisotopes / therapeutic use
  • Humans
  • Karyotyping
  • Liver Neoplasms / genetics*
  • Liver Neoplasms / pathology
  • Liver Neoplasms / therapy
  • Male
  • Melanoma / genetics*
  • Melanoma / pathology
  • Melanoma / therapy
  • Middle Aged
  • Monosomy*
  • Prospective Studies
  • Trisomy*


  • Gold Radioisotopes