Comprehensive genetic analysis of a pediatric pleomorphic myxoid liposarcoma reveals near-haploidization and loss of the RB1 gene.
Author
Summary, in English
Pleomorphic myxoid liposarcoma (PML) is an exceptionally rare and poorly studied subtype of liposarcoma, typically occurring in children and adolescents. The few previous genetic studies have shown that PML lacks the gene fusions and amplifications that characterize myxoid liposarcoma, atypical lipomatous tumor, and dedifferentiated liposarcoma. To learn more about its pathogenesis, we performed a comprehensive genetic analysis, including chromosome banding, fluorescence in situ hybridization, single nucleotide polymorphism (SNP) array analysis, deep sequencing of the exome (WES) complemented by targeted sequencing of hotspot regions of selected cancer-associated genes, and transcriptome sequencing (RNA-seq), of a PML in a 10-year-old boy.
Department/s
- Division of Clinical Genetics
- Orthopedics - Clinical and Molecular Osteoporosis Research
- BioCARE: Biomarkers in Cancer Medicine improving Health Care, Education and Innovation
Publishing year
2016
Language
English
Pages
141-147
Publication/Series
Histopathology
Volume
69
Issue
1
Links
Document type
Journal article
Publisher
Wiley-Blackwell
Topic
- Cancer and Oncology
Status
Published
Research group
- Orthopedics - Clinical and Molecular Osteoporosis Research
ISBN/ISSN/Other
- ISSN: 0309-0167