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Updated: May 28, 2026
Oncogenic Gene Fusion Detection Using Anchored Multiplex Polymerase Chain Reaction Followed by Next Generation Sequencing
Published on: July 5, 2019
Myxoid Lipoblastoma with New Fusion Transcript CHCHD7::PLAG1 in an 18-Month-Old Girl Diagnosed by Target RNA
Danijela Cvetković1, Marina Gazdić Janković1, Marina Miletić Kovačević2
1Department of Genetics, Faculty of Medical Sciences, University of Kragujevac, 34000 Kragujevac, Serbia.
Abstract:
Lipoblastomas are rare, benign tumors arising from embryonic white fatty precursor cells that continue to proliferate in the postnatal period. We present a case of a minimally differentiated lipoblastoma with myxoid features. Our patient was an 18-month-old female with a painless solid tumefaction in the middle third of the right leg. Histopathologically, the nodular tumor mass consisted of lipoblasts embedded in a myxoid stroma. Immunohistochemistry showed strong diffuse positivity for S100, CD34, CD56, NSE and rare Ki67+ cells. FOXO1 polyploidy was detected in 30% of cells by FISH. Using target RNA sequencing, we detected a CHCHD7::PLAG1 fusion gene showing that the first exons of CHCHD7 were fused to either exon 2 or exon 3 of PLAG1. Our case demonstrates that due to the histomorphologic overlaps, the molecular diagnostics can be essential for the confirmation of the diagnosis of lipoblastoma.
