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

Hofvander, Jakob LU ; Jo, Vickie Y; Ghanei, Iman LU ; Gisselsson Nord, David LU ; Mårtensson, Emma LU and Mertens, Fredrik LU (2016) In Histopathology 69(1). p.141-147
Abstract
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.
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Histopathology
volume
69
issue
1
pages
141 - 147
publisher
Wiley-Blackwell
external identifiers
  • pmid:26647907
  • scopus:84958581869
  • wos:000378935800018
ISSN
0309-0167
DOI
10.1111/his.12913
language
English
LU publication?
yes
id
3a3889a8-0e19-4762-bd1f-5477ce220758 (old id 8505329)
alternative location
http://www.ncbi.nlm.nih.gov/pubmed/26647907?dopt=Abstract
date added to LUP
2016-01-05 16:34:32
date last changed
2017-09-18 11:29:02
@article{3a3889a8-0e19-4762-bd1f-5477ce220758,
  abstract     = {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.},
  author       = {Hofvander, Jakob and Jo, Vickie Y and Ghanei, Iman and Gisselsson Nord, David and Mårtensson, Emma and Mertens, Fredrik},
  issn         = {0309-0167},
  language     = {eng},
  number       = {1},
  pages        = {141--147},
  publisher    = {Wiley-Blackwell},
  series       = {Histopathology},
  title        = {Comprehensive genetic analysis of a pediatric pleomorphic myxoid liposarcoma reveals near-haploidization and loss of the RB1 gene.},
  url          = {http://dx.doi.org/10.1111/his.12913},
  volume       = {69},
  year         = {2016},
}