Thomas R. W. Oliver, Dyanne Rampling, Barbara Walkowiak, Nathaniel D. Anderson, Manàs Dave, Henry Lee-Six, Sadie Baskind, Pooja Balasubramanian, Glenn Anderson, Conor Parks, Toochi Ogbonnah, Emilia Robertson, Simon Hannam, Rohan Verma, John C. Achermann, Liina Palm, Neil Sebire, Thomas Jacques, Tom A. Watson, Carryl Dryden, Karin Straathof, Mette Jorgensen, Olga Slater, Mi K. Trinh, Sarita Depani, J. Ciaran Hutchinson
A lethal round-cell malignancy with an MN1::ZNF341 fusion has recently been reported in three infants. Here, we describe four further tumors, three in newborns (including monozygotic twins), and one in an adolescent. Detailed clinical, radiological, and histopathological data differentiate these tumors from their main mimics, neuroblastoma and round-cell sarcomas. Single-cell RNA sequencing confirms the tumor to be transcriptionally distinct from neuroblastoma, instead exhibiting steroidogenic differentiation. Whole genome and targeted DNA sequencing yield no further driver events. Our work reveals a broader clinicopathological phenotype than previously appreciated and corroborates suggestions that this tumor is a distinct and aggressive childhood cancer.