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Retained heterodisomy is associated with high gene expression in hyperhaploid inflammatory leiomyosarcoma.

Hansén Nord, Karolin LU ; Paulsson, Kajsa LU ; Veerla, Srinivas LU orcid ; Wejde, Johan ; Brosjö, Otte ; Mandahl, Nils LU and Mertens, Fredrik LU (2012) In Neoplasia 14(9). p.807-812
Abstract
Inflammatory leiomyosarcoma (ILMS) is a soft tissue tumor that morphologically resembles conventional leiomyosarcoma (LMS) admixed with a prominent inflammatory infiltrate. Genetic data on ILMS are still limited but have suggested that this entity is characterized by hyperhaploidy (24-34 chromosomes). This low chromosome number is otherwise uncommon in neoplasia and has been found only in 0.2% to 0.3% of cytogenetically investigated tumors. Here, three ILMS were investigated using cytogenetic, single-nucleotide polymorphism (SNP) array, and global gene expression analyses. All cases displayed a hyperhaploid origin. Combined with previously reported cases, hyperhaploidy has been found in six of seven cytogenetically investigated ILMS. The... (More)
Inflammatory leiomyosarcoma (ILMS) is a soft tissue tumor that morphologically resembles conventional leiomyosarcoma (LMS) admixed with a prominent inflammatory infiltrate. Genetic data on ILMS are still limited but have suggested that this entity is characterized by hyperhaploidy (24-34 chromosomes). This low chromosome number is otherwise uncommon in neoplasia and has been found only in 0.2% to 0.3% of cytogenetically investigated tumors. Here, three ILMS were investigated using cytogenetic, single-nucleotide polymorphism (SNP) array, and global gene expression analyses. All cases displayed a hyperhaploid origin. Combined with previously reported cases, hyperhaploidy has been found in six of seven cytogenetically investigated ILMS. The copy number distribution of individual chromosomes is clearly nonrandom; the hyperhaploid clones of all six cases displayed disomy for chromosomes 5 and 20, and two copies of chromosomes 18, 21, and 22 were also common. All chromosomes identified as disomic showed a biparental origin by SNP array analysis; whether this is of pathogenetic importance is not known. Compared with conventional LMS, ILMS had a distinct gene expression signature. Furthermore, the number of chromosome copies correlated well with gene expression levels; disomic chromosomes showed higher gene expression levels than monosomic chromosomes, a finding that has not previously been reported for hyperhaploid tumors. Taken together, our findings suggest that disomy for some chromosomes, notably 5 and 20, as well as distorted gene expression achieved through massive loss of other chromosomes are essential features of ILMS. (Less)
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organization
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type
Contribution to journal
publication status
published
subject
in
Neoplasia
volume
14
issue
9
pages
807 - 812
publisher
Neoplasia Press
external identifiers
  • wos:000313345200004
  • pmid:23019412
  • scopus:84866550537
ISSN
1522-8002
language
English
LU publication?
yes
id
87892d99-132d-48eb-8a96-d388da4d309c (old id 3123527)
alternative location
http://www.ncbi.nlm.nih.gov/pubmed/23019412?dopt=Abstract
date added to LUP
2016-04-04 08:24:33
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2024-02-11 00:10:29
@article{87892d99-132d-48eb-8a96-d388da4d309c,
  abstract     = {{Inflammatory leiomyosarcoma (ILMS) is a soft tissue tumor that morphologically resembles conventional leiomyosarcoma (LMS) admixed with a prominent inflammatory infiltrate. Genetic data on ILMS are still limited but have suggested that this entity is characterized by hyperhaploidy (24-34 chromosomes). This low chromosome number is otherwise uncommon in neoplasia and has been found only in 0.2% to 0.3% of cytogenetically investigated tumors. Here, three ILMS were investigated using cytogenetic, single-nucleotide polymorphism (SNP) array, and global gene expression analyses. All cases displayed a hyperhaploid origin. Combined with previously reported cases, hyperhaploidy has been found in six of seven cytogenetically investigated ILMS. The copy number distribution of individual chromosomes is clearly nonrandom; the hyperhaploid clones of all six cases displayed disomy for chromosomes 5 and 20, and two copies of chromosomes 18, 21, and 22 were also common. All chromosomes identified as disomic showed a biparental origin by SNP array analysis; whether this is of pathogenetic importance is not known. Compared with conventional LMS, ILMS had a distinct gene expression signature. Furthermore, the number of chromosome copies correlated well with gene expression levels; disomic chromosomes showed higher gene expression levels than monosomic chromosomes, a finding that has not previously been reported for hyperhaploid tumors. Taken together, our findings suggest that disomy for some chromosomes, notably 5 and 20, as well as distorted gene expression achieved through massive loss of other chromosomes are essential features of ILMS.}},
  author       = {{Hansén Nord, Karolin and Paulsson, Kajsa and Veerla, Srinivas and Wejde, Johan and Brosjö, Otte and Mandahl, Nils and Mertens, Fredrik}},
  issn         = {{1522-8002}},
  language     = {{eng}},
  number       = {{9}},
  pages        = {{807--812}},
  publisher    = {{Neoplasia Press}},
  series       = {{Neoplasia}},
  title        = {{Retained heterodisomy is associated with high gene expression in hyperhaploid inflammatory leiomyosarcoma.}},
  url          = {{http://www.ncbi.nlm.nih.gov/pubmed/23019412?dopt=Abstract}},
  volume       = {{14}},
  year         = {{2012}},
}