Cytogenetic analysis of retinoblastoma

Evidence for multifocal origin and in vivo gene amplification

E. Chaum, R. M. Ellsworth, D. H. Abramson, B. G. Haik, F. D. Kitchin, R. S K Chaganti

Research output: Contribution to journalArticle

40 Citations (Scopus)

Abstract

Retinoblastoma (Rb) is an uncommon childhood tumor of the neural retina with a significant genetic component in its etiology. A small proportion of patients have a deletion in chromosome 13 encompassing band 13q14. an observation which permitted the assignment of the RBI locus to this region. About 20% of Rb tumors exhibit microscopic deletions of band 13q 14 or monosomy 13. Trisomy Iq and i(6p) have also been reported in a high percentage of tumors. We analyzed the chromosome complements from direct preparations of 10 Rb tumors derived from seven patients. Modal chromosome numbers ranged from 45 to 48, and occasional duplications of the genomes were noted. In general, the tumors were chromosomally stable, although karyotypic evolution and random chromosome loss were encountered. Consistent abnormalities included trisomy Iq, i(6p). 6q-, and del(13)(q 12 → 14). One patient with bilateral Rb had three tumor clones (two in one eye and one in the other) with chromosome abnormalities unrelated in origin. A second patient with unilateral Rb had two tumor clones with chromosome abnormalities again unrelated in origin. These two patients provide some of the first cytogenetic evidence for the multifocal origin of primary Rb. In the untreated tumor of a third patient, a homogeneously staining region (HSR) was detected in lp32, indicating gene amplication in vivo previously, an HSR at this site has been reported in the established Rb cell line Y79.

Original languageEnglish (US)
Pages (from-to)82-91
Number of pages10
JournalCytogenetic and Genome Research
Volume38
Issue number2
DOIs
StatePublished - Jan 1 1984
Externally publishedYes

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Retinoblastoma
Gene Amplification
Cytogenetic Analysis
Neoplasms
Chromosomes
Trisomy
Chromosome Aberrations
Clone Cells
Staining and Labeling
Monosomy
Chromosomes, Human, Pair 13
Cytogenetics
Retina
Observation
Genome
Cell Line

All Science Journal Classification (ASJC) codes

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

Cite this

Chaum, E., Ellsworth, R. M., Abramson, D. H., Haik, B. G., Kitchin, F. D., & Chaganti, R. S. K. (1984). Cytogenetic analysis of retinoblastoma: Evidence for multifocal origin and in vivo gene amplification. Cytogenetic and Genome Research, 38(2), 82-91. https://doi.org/10.1159/000132037

Cytogenetic analysis of retinoblastoma : Evidence for multifocal origin and in vivo gene amplification. / Chaum, E.; Ellsworth, R. M.; Abramson, D. H.; Haik, B. G.; Kitchin, F. D.; Chaganti, R. S K.

In: Cytogenetic and Genome Research, Vol. 38, No. 2, 01.01.1984, p. 82-91.

Research output: Contribution to journalArticle

Chaum, E, Ellsworth, RM, Abramson, DH, Haik, BG, Kitchin, FD & Chaganti, RSK 1984, 'Cytogenetic analysis of retinoblastoma: Evidence for multifocal origin and in vivo gene amplification', Cytogenetic and Genome Research, vol. 38, no. 2, pp. 82-91. https://doi.org/10.1159/000132037
Chaum, E. ; Ellsworth, R. M. ; Abramson, D. H. ; Haik, B. G. ; Kitchin, F. D. ; Chaganti, R. S K. / Cytogenetic analysis of retinoblastoma : Evidence for multifocal origin and in vivo gene amplification. In: Cytogenetic and Genome Research. 1984 ; Vol. 38, No. 2. pp. 82-91.
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