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
Аннотация: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.
