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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; 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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published
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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
2012-10-03 20:19:11
date last changed
2017-04-09 04:30:08
@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.},
  volume       = {14},
  year         = {2012},
}