Comprehensive genetic analysis of a pediatric pleomorphic myxoid liposarcoma reveals near-haploidization and loss of the RB1 gene.

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.

• Författare: Jakob Hofvander; Vickie Y Jo; Iman Ghanei; David Gisselsson Nord; Emma Mårtensson; Fredrik Mertens
• Avdelning/ar: Avdelningen för klinisk genetik; Ortopedi - klinisk och molekylär osteoporosforskning; BioCARE: Biomarkers in Cancer Medicine improving Health Care, Education and Innovation
• Publiceringsår: 2016
• Språk: Engelska
• Sidor: 141-147
• Publikation/Tidskrift/Serie: Histopathology
• Volym: 69
• Issue: 1
• Länkar: http://www.ncbi.nlm.nih.gov/pubmed/26647907?dopt=Abstract; http://dx.doi.org/10.1111/his.12913
• Dokumenttyp: Artikel i tidskrift
• Förlag: Wiley-Blackwell
• Ämne: Cancer and Oncology
• Status: Published
• Forskningsgrupp: Orthopedics - Clinical and Molecular Osteoporosis Research
• ISBN/ISSN/Övrigt: ISSN: 0309-0167