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Comprehensive genetic analysis of a pediatric pleomorphic myxoid liposarcoma reveals near-haploidization and loss of the RB1 gene.
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- Hofvander, Jakob (author)
- Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine
- Jo, Vickie Y (author)
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- Ghanei, Iman (author)
- Lund University,Lunds universitet,Ortopedi - klinisk och molekylär osteoporosforskning,Forskargrupper vid Lunds universitet,Orthopedics - Clinical and Molecular Osteoporosis Research,Lund University Research Groups
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- (creator_code:org_t)
- 2016-02-09
- 2016
- English.
- In: Histopathology. - : Wiley. - 0309-0167. ; 69:1, s. 141-147
- Journal article (peer-reviewed)
Abstract
Subject headings
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- 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
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- Jo, Vickie Y
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- Mertens, Fredrik
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