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

Batia Stark*, Andreas Zoubek, Claudia Hattinger, Marta Jeison, Rima Gobuzov, Celia Mor, Ian Cohen, Isaac Yaniv, Peter F. Ambros, Heinrich Kovar, Rina Zaizov

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)161-166
Number of pages6
JournalCancer Genetics and Cytogenetics
Volume87
Issue number2
DOIs
StatePublished - Apr 1996
Externally publishedYes

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