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DNA sequence of the translocation breakpoints in undifferentiated embryonal sarcoma arising in mesenchymal hamartoma of the liver harboring the t(11;19)(q11;q13.4) translocation
Author(s) -
Rajaram Veena,
Knezevich Stevan,
Bove Kevin E.,
Perry Arie,
Pfeifer John D.
Publication year - 2007
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/gcc.20437
Subject(s) - chromosomal translocation , biology , breakpoint , mesenchymal stem cell , sarcoma , microbiology and biotechnology , genetics , medicine , pathology , gene
Undifferentiated embryonal sarcoma of the liver is a highly malignant and aggressive tumor that occasionally arises within mesenchymal hamartoma of the liver (MHL), a benign tumor that typically occurs in young children. Undifferentiated embryonal sarcoma arising in MHL, as well as uncomplicated MHL, frequently harbor rearrangements of band 19q13.4, including the translocation t(11;19)(q13;q13.4). In this study we report the cloning and DNA sequence analysis of the translocation breakpoints in an undifferentiated embryonal sarcoma arising in MHL known to harbor t(11;19). In this case, the breakpoint at 11q13 occurred in the MALAT1 gene, also known as ALPHA. MALAT1 is rearranged in renal tumors harboring the t(6;11)(p21;q13) translocation, and noncoding MALAT1 transcripts are overexpressed in a number of human carcinomas. The breakpoint at 19q13.4 occurs at a locus we refer to as MHLB1 , for Mesenchymal Hamartoma of the Liver Breakpoint 1. Although the MHLB1 locus does not contain a known gene, several human ESTs map to the region (a subset of which show homology to the nuclear RNA export factor ( NXF ) gene family), and the region is conserved between many mammalian species. © 2007 Wiley‐Liss, Inc.