Translocation t(12;16)(q13;p11) in myxoid liposarcoma of a child and implication of the human int-1 gene in tumorigenesis

Cytogenetic and gene analyses were performed in a child with myxoid liposarcoma (MLS). A reciprocal chromosome translocation t(12;16)(q13;p11) was found in the tumor cells. This result, combined with the previous reports of a similar translocation in adult MLS strongly suggests that this translocation may be a characteristic cytogenetic marker in MLS. The human int-1 gene has been reported to be located close to the 12q13 breakpoint associated with MLS. Therefore, we examined the rearrangement of the human int-1 gene by Southern blotting analysis. When genomic DNAs from the tumor cells were digested with KpnI, EcoRI and BamHI, no difference was seen compared to peripheral blood leukocytes (PBL) DNAs from a normal individual. However, with HindIII digestion there appeared a 3.1 kb fragment in tumor cell DNA as compared to a 2.8 kb fragment in DNAs prepared from normal PBL and the patient's PBL. These findings suggest that the int-1 gene may be implicated in tumorigenesis of MLS with t(12;16)(q13;p11).