October 19, 2015

16p11, FUS

FUS rearrangements (16p11) The FUS gene, located on chromosome 16p11, consists of 15 exons located within 11 kb of genomic DNA, and the exon 1 contains a 72-bp untranslated region and the translation initiation codon.  The FUS protein contains an RNA-recognition motif and is a component of nuclear riboprotein complexes. Chromosomal rearrangements involving the FUS […]

16p11, FUS Read More »

13q14, FOXO1/FKHR

Rhabdomyosarcomas are a heterogeneous group of malignant tumors showing skeletal muscle differentiation. They can be divided into 3 subtypes: alveolar, embryonal, and pleomorphic. The rarer alveolar rhabdomyosarcomas (ARMS) are seen in older children, are more likely to occur in limbs, and are associated with higher stage disease and an unfavorable prognosis. Chromosomal rearrangements involving the

13q14, FOXO1/FKHR Read More »

12q13, CHOP (DDIT3)

DDIT3 is a C/EBP-family transcription factor implicated in adipocyte differentiation. Chromosomal rearrangements involving the DDIT3 gene, located on chromosome 12q13, are common in myxoid liposarcomas (MLS) and have also been identified in round cell (RC) and mixed liposarcomas (combined myxoid and round cell). A unique translocation t(12;16)(q13;p11) results in transcriptional deregulation of the DDIT3 gene,

12q13, CHOP (DDIT3) Read More »