Rearrangement of HMGA2 in a case of infantile lipoblastoma without Plag1 alteration

Abstract

Lipoblastoma is a rare benign adipocytic tumor that occurs usually in children. It can be difficult to distinguish a lipoblastoma from other lipogenic tumors. In such cases, the detection of a rearrangement of the PLAG1 gene by fluorescence in situ hybridization analysis is useful for characterizing a lipoblastoma. We present here a novel case of morphological infantile lipoblastoma showing a rearrangement of HMGA2 instead of the classical PLAG1 alteration. HMGA2 is the main target of clonal aberrations encountered in lipomas. This result supports the hypothesis that benign lipomatous tumors harboring PLAG1 or HMGA2 rearrangement could constitute a unique pathogenetic entity.