title: Trisomy 20 is a primary chromosome aberration in desmoid tumors.
abstract: Cytogenetic analysis revealed trisomy 20 in 4 desmoid tumors: in 2 cases as the sole aberration, in 1 together with +X, -Y and -13 and in 1 with +8 and a supernumerary marker chromosome. Our findings indicate that gain of chromosome 20 is an early event in the development of a large subset of desmoid tumors and that it is as frequent as +8, the only consistent chromosomal change previously reported in this tumor type. The non-random occurrence of trisomies 8 and 20 in desmoid tumors indicates shared pathogenetic mechanisms with infantile fibrosarcoma, a fibrous tissue tumor characterized by various combinations of trisomies for chromosomes 8, 11, 17 and 20.
authors.affiliation: Department of Clinical Genetics, University Hospital, Lund, Sweden.
authors.forename: F
authors.initials: F
authors.lastname: Mertens
authors.forename: H
authors.initials: H
authors.lastname: Willén
authors.forename: A
authors.initials: A
authors.lastname: Rydholm
authors.forename: O
authors.initials: O
authors.lastname: Brosjö
authors.forename: B
authors.initials: B
authors.lastname: Carlén
authors.forename: F
authors.initials: F
authors.lastname: Mitelman
authors.forename: N
authors.initials: N
authors.lastname: Mandahl
mesh_terms: D000328:Adult; D000368:Aged; D002890:Chromosomes, Human, Pair 20 / Q000235:genetics*; D005260:Female; D018222:Desmoid Tumors / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D008297:Male; D008875:Middle Aged; D014314:Trisomy / Q000235:genetics*