New molecular insights into the pathogenesis of lipoblastomas: clinicopathologic, immunohistochemical, and molecular analysis in pediatric cases.

Human Pathology
Oscar Lopez-NunezJennifer Picarsic

Abstract

Lipoblastomas can occasionally require further molecular confirmation when occurring outside of the usual age groups or demonstrating unusual morphology. We reviewed 28 lipoblastomas with 16 controls. Lipoblastomas were subdivided into myxoid (n = 7), classic (n = 9), or lipoma-like (n = 12) subtypes. PLAG1 immunohistochemistry, PLAG1 fluorescence in situ hybridization (FISH), and targeted RNA sequencing were performed on formalin-fixed paraffin-embedded tissue. Karyotypes were available in a subset of lipoblastomas (n = 9). Gene rearrangements were identified in 17/25 (68%) lipoblastomas, including PLAG1 (15/25, 60%) and HMGA2 (2/25, 8%). Five novel fusion partners (DDX6, KLF10, and KANSL1L with PLAG1 and EP400 and FGD6 with HMGA2) were found. PLAG1 immunohistochemistry was positive (nuclear, moderate/strong) in myxoid and classic subtypes lipoblastomas with preferential expression in mesenchymal cells within myxoid stroma and fibrous septa and negative in all controls. When comparing PLAG1 immunohistochemistry with molecular testing (FISH and/or RNA sequencing and/or karyotype), concordant results were noted in 13/25 (52%) cases, increasing to 15/25 (60%) after slight adjustment of the PLAG1 FISH positive threshold. In myxoid...Continue Reading

Citations

Mar 10, 2021·Genes, Chromosomes & Cancer·Isabella GiovannoniRita Alaggio
Apr 6, 2021·BMC Pediatrics·Elena Gerhard-HartmannKaren Ernestus
Aug 11, 2021·Surgical Pathology Clinics·Jonathan C Slack, Alanna J Church
Aug 18, 2021·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·Iva BrčićBernadette Liegl-Atzwanger
Sep 1, 2021·Journal of Clinical Immunology·Tarin M BigleyMaleewan Kitcharoensakkul
Oct 5, 2021·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·Mikako WarrenBruce Pawel

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