title: Loss of heterozygosity on the long arm of chromosome 11 in orbital embryonal rhabdomyosarcoma (OERMS): a microsatellite study of seven cases.
abstract: OBJECTIVES. To investigate, by means of microsatellite analysis, regions of chromosome 11 involved in the genesis of embryonal rhabdomyosarcoma (ERMS) localized to the orbit. METHODS. Microsatellite analysis was carried out on seven cases of orbital ERMS by comparing the electrophoretic migration patterns of PCR-amplified microsatellites of chromosome 11 from both constitutional (blood) and tumor genotypes. Five of the tumors analyzed were samples frozen at the time of surgery, and two were paraffin embedded. RESULTS. Overall, microsatellites D11S1396 (11q13.1-q22.3) and D11S976 (11q) showed loss of heterozygosity (LOH) in all tumor samples, thus indicating the presence, on the long arm of chromosome 11, of one or more tumor suppressor genes with a possible role in the genesis of the disease. CONCLUSION. While the role of genes on the short arm of chromosome 11 in the genesis of ERMS is well established, much less is known of the possible involvement of tumor suppressor genes on the long arm of the same chromosome. This is the first report showing the possible involvement of tumor suppressor genes in this portion of the chromosome in ERMS localized to the orbit.
authors.affiliation: Centro per la Ricerca Interdipartimentale per lo Studio delle Affezioni Tumorali dell' Occhio (CRISATO), Università degli Studi di Siena, Siena, Italy
authors.forename: D
authors.initials: D
authors.lastname: Mastrangelo
authors.forename: F
authors.initials: F
authors.lastname: Sappia
authors.forename: S
authors.initials: S
authors.lastname: Bruni
authors.forename: T
authors.initials: T
authors.lastname: Hadjistilianou
authors.forename: N
authors.initials: N
authors.lastname: Squitieri
authors.forename: L
authors.initials: L
authors.lastname: Donoso
authors.forename: R
authors.initials: R
authors.lastname: Frezzotti