title: Metastatic extraosseous Ewing tumor. Association of the additional translocation der(16)t(1;16) with the variant EWS/ERG rearrangement in a case of cytogenetically inconspicuous chromosome 22.
abstract: In Ewing sarcoma and related tumors, recently referred to as the Ewing tumors (ET), t(11;22)(q24q12) and its molecular genetic equivalent, the EWS/FLI-1 rearrangement, characterize approximately 85% of cases, while variant aberrations are rare. A second nonrandom aberration in ET is the unbalanced t(1;16) accompanying the t(11;22) in roughly 17% of cases. We present a 17-year-old man with estraosseous ET and multiple metastases, in whom the only cytogenetically detectable chromosomal aberration was der (16)t(1;16)(q12;q11.2). This finding was confirmed by fluorescence in situ hybridization (FISH). Using the RT-PCR technique, a variant EWS/ERG fusion transcript was noted, resulting from a t(21;22) chromosomal rearrangement which recently demonstrated in roughly 10% of ET. However, data on possible biologic differences in EWS/FLI-1 versus EWS/ERG expressing ET are as yet unavailable. This is the first reported combination of t(1;16) with the EWS/ERG rearrangement. A possible significance of this finding for Ewing tumor progression is discussed.
authors.affiliation: Department of Pediatric Hematology/Oncology, Children's Medical Center of Israel, Petah Tiqva, Israel.
authors.forename: B
authors.initials: B
authors.lastname: Stark
authors.forename: A
authors.initials: A
authors.lastname: Zoubek
authors.forename: C
authors.initials: C
authors.lastname: Hattinger
authors.forename: M
authors.initials: M
authors.lastname: Jeison
authors.forename: R
authors.initials: R
authors.lastname: Gobuzov
authors.forename: C
authors.initials: C
authors.lastname: Mor
authors.forename: I
authors.initials: I
authors.lastname: Cohen
authors.forename: I
authors.initials: I
authors.lastname: Yaniv
authors.forename: P F
authors.initials: PF
authors.lastname: Ambros
authors.forename: H
authors.initials: H
authors.lastname: Kovar
authors.forename: R
authors.initials: R
authors.lastname: Zaizov
mesh_terms: D000293:Adolescent; D001859:Bone Neoplasms / Q000556:secondary; D002878:Chromosomes, Human, Pair 1; D002885:Chromosomes, Human, Pair 16; D002892:Chromosomes, Human, Pair 22; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008175:Lung Neoplasms / Q000556:secondary; D008297:Male; D012512:Sarcoma, Ewing / Q000235:genetics* / Q000473:pathology; D014178:Translocation, Genetic