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LINE‐I element insertion at the t(11;22) translocation breakpoint of a desmoplastic small round cell tumor
Author(s) -
Liu Jun,
Nau Marion M.,
ZucmanRossi Jessica,
Powell John I.,
Allegra Carmen J.,
Wright John J.
Publication year - 1997
Publication title -
genes, chromosomes and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.754
H-Index - 119
eISSN - 1098-2264
pISSN - 1045-2257
DOI - 10.1002/(sici)1098-2264(199703)18:3<232::aid-gcc10>3.0.co;2-k
Subject(s) - biology , breakpoint , desmoplastic small round cell tumor , chromosomal translocation , genetics , exon , germline , microbiology and biotechnology , homology (biology) , gene rearrangement , gene , chemotherapy
A t(11;22)(p13;p12) chromosomal translocation, juxtaposing the Wilms' tumor ( WTI ) and Ewing's sarcoma ( EWS ) genes, is the cytogenetic hallmark of desmoptastic small round cell tumor (DSRCT), a primitive multiphenotypic sarcoma arising in serosal tissues. Chimeric transcripts generated by this rearrangement encode an aberrant transcription factor that fuses the 5′ region of EWS with a 3′ WTI segment. We describe the insertion of a LINE‐I DNA mobile genetic element at the genomic breakpoint of a DSRCT chromosomal translocation. A 480 bp heterologous DNA segment with homology to the LINE‐I DNA consensus sequence was located between EWS intron 8 and WTI exon 8 in the productively rearranged allele. Sequence homology corresponded to the LINE‐I ORF‐2, which encodes a protein with reverse‐transcriptase activity. The heterologous inserted fragment was not evident in the germline of normal tissue from the patient, suggesting that transposition occurred in somatic cells, possibly during the process of chromosomal rearrangement. This case represents the first example of LINE‐I DNA transposition at the fusion site of a tumor‐associated chromosomal rearrangement. Genes Chromosom. Cancer 18:232–239, 1997 . © 1997 Wiley‐Liss, Inc.