Lessons learnt from MDM2 FISH analysis on 439 mature lipomatous lesions with emphasis on atypical lipomatous tumours / well-differentiated liposarcoma (ALT/WDLPS) lacking cytological atypia.

A Cristina VargasFiona M Maclean


MDM2 gene amplification, usually detected by fluorescence in situ hybridization (FISH), is the key driving event in atypical lipomatous tumours/well-differentiated liposarcomas (ALT/WDL). We sought to determine the concordance between the histopathological findings and MDM2 FISH in the diagnosis of ALT/WDL and to identify the histological features of MDM2 amplified tumours lacking classic atypia. We performed a retrospective analysis of all mature lipomatous lesions subjected to MDM2 FISH analysis at our institution. MDM2 FISH analysis was performed on 439 mature lipomatous lesions: 364 (82.9%) were negative and 75 (17%) were positive. In 17/75 (22.6%) ALT/WDLs, cytological atypia was not identified on initial histological assessment, thus favouring lipoma. On review, these cases shared common histological features consisting of a very low number of relatively small stromal cells within the tumour lobules, with mildly coarse chromatin and oval shaped nuclei, admixed with unremarkable adipocytes in a tumour background devoid of fibroconnective septa, areas of fibrosis or blood vessels. These cells matched the cells displaying MDM2 amplification by FISH. In contrast, 13 cases (3.5%) regarded as suspicious for ALT/WDL based on his...Continue Reading

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