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Volume 27
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10.3390/ijms27104312
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This is an early access version, the complete PDF, HTML, and XML versions will be available soon.
Case Report

Myxoid Lipoblastoma with New Fusion Transcript CHCHD7::PLAG1 in an 18-Month-Old Girl Diagnosed by Target RNA Sequencing: A Case Report

by
Danijela Cvetković
1,
Marina Gazdić Janković
1,
Marina Miletić Kovačević
2,*,
Amra Ramović Hamzagić
3,
Irena Urošević
4,
Vesna Rosić
2 and
Biljana Ljujić
1
1
Department of Genetics, Faculty of Medical Sciences, University of Kragujevac, 34000 Kragujevac, Serbia
2
Department of Histology and Embryology, Faculty of Medical Sciences, University of Kragujevac, 34000 Kragujevac, Serbia
3
Center for Genetics and Molecular Diagnostics, Polyclinic Ramovic, 36300 Novi Pazar, Serbia
4
Faculty of Medical Sciences, University of Kragujevac, 34000 Kragujevac, Serbia
*
Author to whom correspondence should be addressed.
Int. J. Mol. Sci. 2026, 27(10), 4312; https://doi.org/10.3390/ijms27104312
Submission received: 22 April 2026 / Revised: 8 May 2026 / Accepted: 9 May 2026 / Published: 12 May 2026
(This article belongs to the Special Issue Genes and Human Diseases: 3rd Edition)
Versions Notes

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.
Keywords: PLAG1; lipoblastoma; toddler; chromosomal rearrangement; RNA sequence PLAG1; lipoblastoma; toddler; chromosomal rearrangement; RNA sequence

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MDPI and ACS Style

Cvetković, D.; Janković, M.G.; Kovačević, M.M.; Hamzagić, A.R.; Urošević, I.; Rosić, V.; Ljujić, B. Myxoid Lipoblastoma with New Fusion Transcript CHCHD7::PLAG1 in an 18-Month-Old Girl Diagnosed by Target RNA Sequencing: A Case Report. Int. J. Mol. Sci. 2026, 27, 4312. https://doi.org/10.3390/ijms27104312

AMA Style

Cvetković D, Janković MG, Kovačević MM, Hamzagić AR, Urošević I, Rosić V, Ljujić B. Myxoid Lipoblastoma with New Fusion Transcript CHCHD7::PLAG1 in an 18-Month-Old Girl Diagnosed by Target RNA Sequencing: A Case Report. International Journal of Molecular Sciences. 2026; 27(10):4312. https://doi.org/10.3390/ijms27104312

Chicago/Turabian Style

Cvetković, Danijela, Marina Gazdić Janković, Marina Miletić Kovačević, Amra Ramović Hamzagić, Irena Urošević, Vesna Rosić, and Biljana Ljujić. 2026. "Myxoid Lipoblastoma with New Fusion Transcript CHCHD7::PLAG1 in an 18-Month-Old Girl Diagnosed by Target RNA Sequencing: A Case Report" International Journal of Molecular Sciences 27, no. 10: 4312. https://doi.org/10.3390/ijms27104312

APA Style

Cvetković, D., Janković, M. G., Kovačević, M. M., Hamzagić, A. R., Urošević, I., Rosić, V., & Ljujić, B. (2026). Myxoid Lipoblastoma with New Fusion Transcript CHCHD7::PLAG1 in an 18-Month-Old Girl Diagnosed by Target RNA Sequencing: A Case Report. International Journal of Molecular Sciences, 27(10), 4312. https://doi.org/10.3390/ijms27104312

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