title: Constitutional trisomy 8 mosaicism and gestational trophoblastic disease.
abstract: Concurrence of congenital trisomy 8 mosaicism and gestational trophoblastic disease in a 42-year-old gravida IV, para IV female is described in the present report. In contrast to other cases described in the literature, our patient had no known additional confounding chromosomal abnormalities other than trisomy 8. The finding of trisomy 8 mosaicism in yet another type of cancer provides further support for the hypothesis of an increased predisposition to cancer in tissues with constitutional genomic imbalance, which can manifest itself as numerical chromosomal abnormalities (e.g., trisomies) or structural chromosomal abnormalities (e.g., translocations). To the best of our knowledge, this is the only report in the English literature of constitutional trisomy 8 mosaicism associated with gestational trophoblastic disease, a rare gynecologic disease entity in itself.
authors.affiliation: Department of Pathology, Rhode Island Hospital, Providence 02903, USA.
authors.forename: F L
authors.initials: FL
authors.lastname: Mark
authors.forename: J
authors.initials: J
authors.lastname: Ahearn
authors.forename: J C
authors.initials: JC
authors.lastname: Lathrop
mesh_terms: D000328:Adult; D002898:Chromosomes, Human, Pair 8; D005260:Female; D006801:Humans; D007621:Karyotyping; D008175:Lung Neoplasms / Q000556:secondary; D009030:Mosaicism; D010534:Peritoneal Neoplasms / Q000556:secondary; D011247:Pregnancy; D014314:Trisomy; D014328:Trophoblastic Neoplasms / Q000235:genetics; D018245:Trophoblastic Tumor, Placental Site / Q000188:drug therapy / Q000235:genetics* / Q000556:secondary; D001749:Urinary Bladder Neoplasms / Q000556:secondary; D014594:Uterine Neoplasms / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology