Novel Clonal t(2;4) (q23;p14) Secondary Cytogenetic Abnormality in a Primary Myxoid Liposarcoma.

Kiyani A, Heerema NA, Mayerson JL, Scharschmidt TJ, Iwenofu OH
Appl Immunohistochem Mol Morphol 23 538-40 08/01/2015


Myxoid liposarcomas are malignant lipomatous tumors with a predilection for young adults. They are characterized by the presence of reciprocal translocation between the CHOP (DDIT3) gene on chromosome 12 and the FUS gene on chromosome 16, t(12;16)(q13;p11.2) in >95% of cases, or less commonly, a translocation between the DDIT3 and EWSR1 genes, t(12;22)(q13;q12). Secondary aberrations involving trisomy 8 and chromosomes 1 and 16 have been reported. Herein, we report for the first time a novel secondary clonal translocation, t(2;4) (q23;p14) in addition to t(12;16)(q13; p11.2) in a 30-year-old woman with myxoid liposarcoma on the left posterior thigh region without any prior chemoradiation therapy. The significance of this translocation remains to be established.

Full Text