title: Spectral karyotyping reveals 17;22 fusions in a cytogenetically atypical dermatofibrosarcoma protuberans with a large marker chromosome as a sole abnormality.
abstract: The presence of an extra ring chromosome containing material from 17q and 22q, or, less frequently, a t(17;22)(q22;q13), is a cytogenetic hallmark of dermatofibrosarcoma protuberans (DFSP). However, occasionally tumors with other, atypical karyotypes are encountered. We describe a case of recurrent DFSP without a ring chromosome or a t(17;22) on standard cytogenetic analysis. In all cells analyzed by G-banding, an additional, large marker chromosome was present as a sole abnormality. This chromosome apparently included chromosome 8 or the 8q arm, but the origin of its remaining part could not be determined with certainty. To characterize further the abnormal chromosome, we applied spectral karyotyping (SKY). SKY confirmed the presence of an extra chromosome 8 or arm 8q in the marker and showed that its remaining part was composed of segments from chromosomes 7, 17, 21, and 22, with two copies of a 17;22 fusion. Our results and the literature data suggest that, in addition to a specific 17;22 fusion, amplification of material from chromosomes 17, 22, 8, 5, 7, and 21 may play a role in DFSP development and/or progression. Furthermore, our case demonstrates the usefulness of SKY in detection of a diagnostically relevant 17;22 fusion in DFSP patients who have unusual karyotypic features.
authors.affiliation: Division of Hematology and Oncology, and the Comprehensive Cancer Center, The Ohio State University, Columbus, Ohio, USA. mrozek-1@medctr.osu.edu
authors.forename: K
authors.initials: K
authors.lastname: Mrózek
authors.forename: M
authors.initials: M
authors.lastname: Iliszko
authors.forename: J
authors.initials: J
authors.lastname: Ryś
authors.forename: M
authors.initials: M
authors.lastname: Babińska
authors.forename: A
authors.initials: A
authors.lastname: Niezabitowski
authors.forename: C D
authors.initials: CD
authors.lastname: Bloomfield
authors.forename: J
authors.initials: J
authors.lastname: Limon
mesh_terms: D000328:Adult; D020223:Chromosome Painting; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics; D018223:Dermatofibrosarcoma / Q000235:genetics*; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D007621:Karyotyping / Q000379:methods; D009364:Neoplasm Recurrence, Local; D012303:Ring Chromosomes; D012878:Skin Neoplasms / Q000235:genetics*; D014178:Translocation, Genetic / Q000235:genetics*
chemical_list: D005819:Genetic Markers