Potential diagnostic implications of breakpoints in the long arm of chromosome 8 in lipoblastoma.

ABSTRACT

We report a case of lipoblastoma in a 17-month-old male patient with a pseudodiploid karyotype of 46,XY,der(14)t(8;14)(q11.2;q24). The tumor cells show two normal chromosome 8 homologs in addition to the extra 8q11.2-->qter segment, making it trisomic for the region 8q11.2-->qter, and monosomic for 14q24-->qter. Reports of chromosome studies in lipoblastoma are rare; however, a breakpoint in the long arm of chromosome 8q11-13 appears to be emerging as a consistent finding.