Comprehensive genetic analysis of a pediatric pleomorphic myxoid liposarcoma reveals near-haploidization and loss of the RB1 gene.
(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.
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/8505329
- author
- Hofvander, Jakob LU ; Jo, Vickie Y ; Ghanei, Iman LU ; Gisselsson Nord, David LU ; Mårtensson, Emma LU and Mertens, Fredrik LU
- organization
- publishing date
- 2016
- type
- Contribution to journal
- publication status
- published
- subject
- in
- Histopathology
- volume
- 69
- issue
- 1
- pages
- 141 - 147
- publisher
- Wiley-Blackwell
- external identifiers
-
- pmid:26647907
- pmid:26647907
- wos:000378935800018
- scopus:84974681769
- 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
- 2016-04-04 08:01:12
- date last changed
- 2024-05-25 01:24:13
@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}}, doi = {{10.1111/his.12913}}, volume = {{69}}, year = {{2016}}, }