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Heterogeneous genetic profiles in soft tissue myoepitheliomas

Hansén Nord, Karolin LU ; Teixeira, Manuel R.; Fletcher, Christopher D. M.; Bizarro, Susana; Staaf, Johan LU ; Domanski, Henryk LU ; Vult von Steyern, Fredrik LU ; Panagopoulos, Ioannis LU ; Mandahl, Nils LU and Mertens, Fredrik LU (2008) In Modern Pathology 21(11). p.1311-1319
Abstract
Myoepithelioma, mixed tumor and parachordoma are uncommon soft tissue tumors thought to represent morphological variants of a single tumor type. The genetic basis of these neoplasms is poorly understood. However, they morphologically resemble mixed tumor of the salivary glands (also known as pleomorphic adenoma), a tumor characterized by deregulated expression of PLAG1 or HMGA2. To evaluate a possible genetic relationship between these soft tissue and salivary gland tumors, PLAG1 expression levels and the genomic status of PLAG1 and HMGA2 were investigated in five soft tissue myoepitheliomas and one pleomorphic adenoma. In addition, all tumors were cytogenetically investigated and whole genome DNA copy number imbalances were studied in... (More)
Myoepithelioma, mixed tumor and parachordoma are uncommon soft tissue tumors thought to represent morphological variants of a single tumor type. The genetic basis of these neoplasms is poorly understood. However, they morphologically resemble mixed tumor of the salivary glands (also known as pleomorphic adenoma), a tumor characterized by deregulated expression of PLAG1 or HMGA2. To evaluate a possible genetic relationship between these soft tissue and salivary gland tumors, PLAG1 expression levels and the genomic status of PLAG1 and HMGA2 were investigated in five soft tissue myoepitheliomas and one pleomorphic adenoma. In addition, all tumors were cytogenetically investigated and whole genome DNA copy number imbalances were studied in five of them. The genetic profiles were heterogeneous and the only aberration common to all soft tissue myoepitheliomas was a minimally deleted region of 3.55 Mb in chromosome band 19p13. Recurrent deletion of CDKN2A suggests that inactivation of this tumor suppressor gene is pathogenetically important in a subset. Furthermore, PLAG1 rearrangement was found in a soft tissue tumor from a patient previously treated for a salivary pleomorphic adenoma, indicating either metastasis of the salivary gland lesion or that some soft tissue tumors develop through the same mechanisms as their salivary gland counterparts. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
parachordoma, myoepithelioma, mixed tumor, EWSR1, HMGA2, PLAG1
in
Modern Pathology
volume
21
issue
11
pages
1311 - 1319
publisher
Nature Publishing Group
external identifiers
  • wos:000260425300003
  • pmid:18604193
  • scopus:57749108339
ISSN
1530-0285
DOI
10.1038/modpathol.2008.124
language
English
LU publication?
yes
id
d3a0d423-fbeb-4974-8965-7399067370db (old id 1283884)
alternative location
http://www.ncbi.nlm.nih.gov/pubmed/18604193?dopt=Abstract
date added to LUP
2009-02-09 11:13:15
date last changed
2017-11-12 03:46:54
@article{d3a0d423-fbeb-4974-8965-7399067370db,
  abstract     = {Myoepithelioma, mixed tumor and parachordoma are uncommon soft tissue tumors thought to represent morphological variants of a single tumor type. The genetic basis of these neoplasms is poorly understood. However, they morphologically resemble mixed tumor of the salivary glands (also known as pleomorphic adenoma), a tumor characterized by deregulated expression of PLAG1 or HMGA2. To evaluate a possible genetic relationship between these soft tissue and salivary gland tumors, PLAG1 expression levels and the genomic status of PLAG1 and HMGA2 were investigated in five soft tissue myoepitheliomas and one pleomorphic adenoma. In addition, all tumors were cytogenetically investigated and whole genome DNA copy number imbalances were studied in five of them. The genetic profiles were heterogeneous and the only aberration common to all soft tissue myoepitheliomas was a minimally deleted region of 3.55 Mb in chromosome band 19p13. Recurrent deletion of CDKN2A suggests that inactivation of this tumor suppressor gene is pathogenetically important in a subset. Furthermore, PLAG1 rearrangement was found in a soft tissue tumor from a patient previously treated for a salivary pleomorphic adenoma, indicating either metastasis of the salivary gland lesion or that some soft tissue tumors develop through the same mechanisms as their salivary gland counterparts.},
  author       = {Hansén Nord, Karolin and Teixeira, Manuel R. and Fletcher, Christopher D. M. and Bizarro, Susana and Staaf, Johan and Domanski, Henryk and Vult von Steyern, Fredrik and Panagopoulos, Ioannis and Mandahl, Nils and Mertens, Fredrik},
  issn         = {1530-0285},
  keyword      = {parachordoma,myoepithelioma,mixed tumor,EWSR1,HMGA2,PLAG1},
  language     = {eng},
  number       = {11},
  pages        = {1311--1319},
  publisher    = {Nature Publishing Group},
  series       = {Modern Pathology},
  title        = {Heterogeneous genetic profiles in soft tissue myoepitheliomas},
  url          = {http://dx.doi.org/10.1038/modpathol.2008.124},
  volume       = {21},
  year         = {2008},
}