title: Translocation t(7;19)(q22;q13)−a recurrent chromosome aberration in pseudomyogenic hemangioendothelioma?
abstract: Pseudomyogenic hemangioendothelioma is a recently described morphologic entity among soft tissue tumors. It is more common in young individuals, shows a male predominance, is often multifocal and involves different tissue planes, and shows a high propensity for local recurrence. To our knowledge, no genetic characteristics of this tumor type have been presented before. Here, we describe the finding of a balanced t(7;19)(q22;q13) as the sole anomaly in three lesions from a 14-year-old girl. By means of fluorescence in situ hybridization, the breakpoints could be delineated, but reverse transcriptase−polymerase chain reaction for putative fusion genes did not reveal any fusion transcript. Interphase fluorescence in situ hybridization on sections from nine other pseudomyogenic hemangioendotheliomas indicated the presence of an unbalanced der(7)t(7;19) in one of them. Thus, the translocation between chromosomes 7 and 19 seems to be a recurrent phenomenon and is likely to be of pathogenetic significance in at least a subset of pseudomyogenic hemangioendotheliomas.
authors.affiliation: Department of Genetics and Microbiology, University of Bari, Bari, Italy.
authors.forename: Domenico
authors.initials: D
authors.lastname: Trombetta
authors.forename: Linda
authors.initials: L
authors.lastname: Magnusson
authors.forename: Fredrik Vult
authors.initials: FV
authors.lastname: von Steyern
authors.forename: Jason L
authors.initials: JL
authors.lastname: Hornick
authors.forename: Christopher D M
authors.initials: CD
authors.lastname: Fletcher
authors.forename: Fredrik
authors.initials: F
authors.lastname: Mertens
mesh_terms: D000293:Adolescent; D002888:Chromosomes, Human, Pair 19; D002897:Chromosomes, Human, Pair 7; D005260:Female; D006390:Hemangioendothelioma / Q000235:genetics* / Q000473:pathology; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D009364:Neoplasm Recurrence, Local / Q000235:genetics*; D014178:Translocation, Genetic