Evidence by spectral karyotyping that 8q11.2 is nonrandomly involved in lipoblastoma

We report two cases of lipoblastoma with chromosome 8-related aberrations, ie, a 92,XXYY,t(7;8)(p22;q11.2)x2 [8]/46,XY[16] in Case 1 and a 46,XY,-8,-1 3,add(16) (q22),+mar, +r [cp13]/46,XY[7] in Case 2, Using spectral karyotyp ing and fluorescence in situ hybridization techniques, the karyotype of Cas e 2 was redesignated as 46,XY, r(8), del(13)(q12), der(16)ins(16;8)(q22; q2 4q11.2)[cp13]/46,XY[7]. This report delineates a new chromosome rearrangeme nt, ie, der(16)ins(16;8)(q22; q24q11.2) in lipoblastoma, and also confirms the t(7; 8)(p22;q11.2), reported only once previously, as a recurrent trans location involved in such a tumor. These findings provide valuable informat ion for clinical molecular cytogenetic diagnosis of lipoblastoma, Furthermo re, this report highlights the value of cytogenetic and molecular cytogenet ic analysis in differential diagnosis of childhood adipose tissue tumors an d adds to the number of lipoblastomas reported with chromosomal abnormaliti es at 8q11.2.