title: A subset of gestational trophoblastic disease characterized by abnormal chromosome 8 copy number detected by fluorescence in situ hybridization.
abstract: The present paper describes the results of research conducted to ascertain whether the report by Mark et al. [1], describing the concurrence of congenital trisomy 8 mosaicism and gestational trophoblastic disease (GTD) in a 42 year-old Gravida IV, Para IV patient was an isolated event. In contrast to other cases described in the literature, the patient described in Mark et al. [1] had no additional confounding chromosomal abnormalities other than trisomy 8. To the best of our knowledge, ours was the only reported case of constitutional trisomy 8 mosaicism associated with gestational trophoblastic disease, a rare gynecological disease entity. The question arises whether there exists a subset of patients with GTD characterized by an abnormal chromosome 8 copy number. The implicit hypothesis is that an abnormal number of chromosome 8 somehow predisposes to cancer. A pilot study of 10 cases of GTD was conducted using fluorescence in situ hybridization (FISH) and a commercial chromosome 8-specific alpha-satellite probe on formalin-fixed, paraffin-embedded patient tissues. Among eight informative cases successfully completed, two cases (25%) were found to be trisomic, when a cut-off point of 10% trisomic cells is adopted. Another two cases (25%) were found to be triploid. The results of our FISH study indicated that an abnormal chromosome 8 copy number found in Mark et al. [1] is unlikely to be an isolated event. Our data are consistent with the hypothesis that a subset of GTD indeed may exist which is characterized by more than two copies of chromosome 8. The present findings corroborate those recently found in breast, prostate, and other cancers.
authors.affiliation: Laboratory of Cytogenetics, FISH and Genotoxicology, Rhode Island Hospital, Providence 02903, USA.
authors.forename: H F
authors.initials: HF
authors.lastname: Mark
authors.forename: A
authors.initials: A
authors.lastname: Afify
authors.forename: W
authors.initials: W
authors.lastname: Taylor
authors.forename: K
authors.initials: K
authors.lastname: Santoro
authors.forename: J C
authors.initials: JC
authors.lastname: Lathrop
mesh_terms: D000328:Adult; D002897:Chromosomes, Human, Pair 7; D002898:Chromosomes, Human, Pair 8; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D010865:Pilot Projects; D011247:Pregnancy; D014314:Trisomy; D014328:Trophoblastic Neoplasms / Q000235:genetics* / Q000473:pathology; D014594:Uterine Neoplasms / Q000235:genetics* / Q000473:pathology