Rearrangement involving chromosomes 1 and 8 in a retroperitoneal lipoma

Superficial lipomas are very common benign adipose tissue tumors. In contrast, deep-seated lipomas such as retroperitoneal lipomas, are extremely rare and have to be carefully distinguished from well-differentiated liposarcomas for appropriate treatment and follow-up. We report to, our knowledge, the first cytogenetic analysis of a retroperitoneal lipoma occurring in an adult, which showed a complex rearrangement interpreted as t(1;8)(q32;q22∼q23) followed by a pericentric inversion of der(8). There was no detectable rearrangement of chromosome 12, and in particular no 12q14∼q15 amplification. Because rearrangements of the 8q11∼q13 region involving the PLAG1 gene have been described in lipoblastoma—another kind of benign adipose tumor—we used fluorescence in situ hybridization analysis to determine in the present case the chromosomal breakpoint on 8q was located between the ETO (8q22) and COX6C (8q22∼q23) genes at a great distance from PLAG1. Karyotypic analysis of additional cases of retroperitoneal lipomas will be required to assess the significance of chromosome 1 and 8 rearrangements in a continuous effort to attain a better classification of adipose tissue tumors. Of great importance is the determination of such genetic markers as additional tools for the differential diagnosis between benign and malignant forms of adipose tumors, and to avoid erroneous diagnoses.