We present a case of primary rhabdoid tumour of the orbit. Presenting features at birth included congenital ptosis, conjunctival injection, hyphaema and microphthalmia. The unique presentation caused a late diagnosis following the development of rapid proptosis 6 months later. We suggest that orbital rhabdoid tumour be considered in the differential diagnoses of patients presenting with atypical persistent foetal vasculature features.
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http://dx.doi.org/10.1136/bcr-2022-250776 | DOI Listing |
J Pathol
January 2025
SIREDO Oncology Center (Care, Innovation and Research for Children and AYA with Cancer), Institut Curie, Université Paris Cité, Paris, France.
Rhabdoid tumours (RT) are an aggressive malignancy affecting <2-year-old infants, characterised by biallelic loss-of-function alterations in SWI/SNF-related BAF chromatin remodelling complex subunit B1 (SMARCB1) in nearly all cases. Germline SMARCB1 alterations are found in ~30% of patients and define the RT Predisposition Syndrome type 1 (RTPS1). Uveal melanoma (UVM), the most common primary intraocular cancer in adults, does not harbour SMARCB1 alterations.
View Article and Find Full Text PDFNeuro Oncol
January 2025
Division of Oncology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Background: Central nervous system (CNS) tumors lead to cancer-related mortality in children. Genetic ancestry-associated cancer prevalence and outcomes have been studied, but is limited.
Methods: We performed genetic ancestry prediction in 1,452 pediatric patients with paired normal and tumor whole genome sequencing from the Open Pediatric Cancer (OpenPedCan) project to evaluate the influence of reported race and ethnicity and ancestry-based genetic superpopulations on tumor histology, molecular subtype, survival, and treatment.
Childs Nerv Syst
January 2025
The Geoffrey Jefferson Brain Research Centre, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.
Background: Atypical teratoid/rhabdoid tumours (ATRTs) are malignant central nervous system tumours, typically presenting in the posterior fossa of very young children. Prognosis remains poor despite current therapy, while tumorigenesis implicates both genomic and epigenetic dysregulation. Primary diffuse leptomeningeal (PDL) ATRT, characterised by the absence of an intraparenchymal mass lesion, is seldom reported but appears associated with a dismal outcome.
View Article and Find Full Text PDFVirchows Arch
January 2025
Department of Pathology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
Liver masses are common in children, however primary malignant neoplasms are rare, representing only 1% of all pediatric cancers. Hepatocellular neoplasms are the most common primary liver malignancies and hepatoblastoma (HB) is the most frequently diagnosed. The incidence of HB, which is increasing, is approximately of 2 cases per million in the United States, followed by hepatocellular carcinoma (HCC).
View Article and Find Full Text PDFNeurosurg Rev
January 2025
Department of Neurosurgery, The First Hospital of Jilin University, Changchun, China.
Atypical teratoid rhabdoid tumor (AT/RT) is a rare embryonal central nervous system tumor with a dismal prognosis that occurs mostly in early childhood. Since recent epidemiological and prognostic information is limited, we aimed to describe and analyze AT/RT-related incidences, temporal trends and prognostic factors. Incidence and survival data between 2001 and 2021 were extracted from the Surveillance, Epidemiology, and End Results (SEER) database.
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