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Vanished MDM2 amplification in a poorly differentiated sarcoma with amplified TERT-TRIO fusion gene: a targeted effect of radiotherapy?

ABSTRACT: The identification of genetic alterations in sarcoma may give precious clues for the diagnosis. The detection of MDM2 amplification has an important impact since it may orientate towards a dedifferentiated liposarcoma (DDLPS) or more rarely towards an intimal sarcoma. Here we describe a poorly differentiated sarcoma initially diagnosed as a DDLPS, mainly on the basis of FISH analysis that detected MDM2 amplification. The patient was treated by adjuvant radiotherapy and, when the tumor recurred a few years later, MDM2 amplification was not observed anymore. We report the clinical, immunohistological, genomic and molecular description of the primary tumors and his recurrences.

ORGANISM(S): Homo sapiens

PROVIDER: GSE200434 | GEO | 2022/04/08

REPOSITORIES: GEO

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