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Fusion, disruption, and expression of HMGA2 in bone and soft tissue chondromas

Dahlén, Anna LU ; Mertens, Fredrik LU ; Rydholm, Anders LU ; Brosjö, Otte; Wejde, Johan; Mandahl, Nils LU and Panagopoulos, Ioannis LU (2003) In Modern Pathology 16(11). p.1132-1140
Abstract

Soft tissue and skeletal chondromas are rare entities, and only 21 cases with abnormal karyotypes have been reported. A survey of these, and 10 new cases reported herein, showed that the 12q13-15 segment is nonrandomly involved in structural rearrangements in chondromas. The HMGA2 (HMGI-C) locus in 12q15 is frequently rearranged in other benign mesenchymal tumors, and this study aimed at characterizing the expression of HMGA2 in chondromatous tumors. The material consisted of 8 soft tissue and 6 skeletal chondromas, as well as of 14 skeletal chondrosarcomas. All cases had been cytogenetically analyzed. Expression of HMGA2 could be assessed by RT-PCR in 8 chondromas and 13 chondrosarcomas. HMGA2 was expressed in 4 of six soft tissue... (More)

Soft tissue and skeletal chondromas are rare entities, and only 21 cases with abnormal karyotypes have been reported. A survey of these, and 10 new cases reported herein, showed that the 12q13-15 segment is nonrandomly involved in structural rearrangements in chondromas. The HMGA2 (HMGI-C) locus in 12q15 is frequently rearranged in other benign mesenchymal tumors, and this study aimed at characterizing the expression of HMGA2 in chondromatous tumors. The material consisted of 8 soft tissue and 6 skeletal chondromas, as well as of 14 skeletal chondrosarcomas. All cases had been cytogenetically analyzed. Expression of HMGA2 could be assessed by RT-PCR in 8 chondromas and 13 chondrosarcomas. HMGA2 was expressed in 4 of six soft tissue chondromas, all displaying 12q-rearrangements at cytogenetic analysis. A truncated transcript (exons 1-3), but not a full-length (exons 1-5) transcript, was detected in three of them, suggesting activation through an intragenic rearrangement. One soft tissue chondroma had a t(3;12)(q27;q15), and the RT-PCR analysis revealed an HMGA2-LPP fusion transcript, composed of HMGA2 exons 1-3 and LPP exons 9-11. An identical fusion transcript previously has been identified in lipoma and pulmonary chondroid hamartoma. In the fourth soft tissue chondroma, a full-length transcript was detected, indicating expression of at least one intact allele. Both skeletal chondromas expressed HMGA2. In one of them, a full-length transcript was detected, even though 12q was cytogenetically unaffected. A truncated or full-length transcript was found in 8 of 13 chondrosarcomas, 4 of which displayed 12q rearrangements. Possibly, cryptic rearrangements were present among the many complex marker chromosomes in the remaining 4 cases.

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Adolescent, Adult, Aged, Amino Acid Sequence, Base Sequence, Bone Neoplasms, Chondroma, Chondrosarcoma, Cytoskeletal Proteins, Female, Gene Rearrangement, HMGA2 Protein, Humans, In Situ Hybridization, Fluorescence, LIM Domain Proteins, Male, Middle Aged, Molecular Sequence Data, Recombinant Fusion Proteins, Soft Tissue Neoplasms, Journal Article, Research Support, Non-U.S. Gov't
in
Modern Pathology
volume
16
issue
11
pages
9 pages
publisher
Nature Publishing Group
external identifiers
  • pmid:14614053
  • wos:000186854500009
  • scopus:0242607591
ISSN
1530-0285
DOI
10.1097/01.MP.0000092954.42656.94
language
English
LU publication?
yes
id
ec349ef8-b8bb-4c23-a775-b179e41d5be7 (old id 118954)
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http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=pubmed&list_uids=14614053
date added to LUP
2007-07-03 10:55:36
date last changed
2018-01-07 09:01:43
@article{ec349ef8-b8bb-4c23-a775-b179e41d5be7,
  abstract     = {<p>Soft tissue and skeletal chondromas are rare entities, and only 21 cases with abnormal karyotypes have been reported. A survey of these, and 10 new cases reported herein, showed that the 12q13-15 segment is nonrandomly involved in structural rearrangements in chondromas. The HMGA2 (HMGI-C) locus in 12q15 is frequently rearranged in other benign mesenchymal tumors, and this study aimed at characterizing the expression of HMGA2 in chondromatous tumors. The material consisted of 8 soft tissue and 6 skeletal chondromas, as well as of 14 skeletal chondrosarcomas. All cases had been cytogenetically analyzed. Expression of HMGA2 could be assessed by RT-PCR in 8 chondromas and 13 chondrosarcomas. HMGA2 was expressed in 4 of six soft tissue chondromas, all displaying 12q-rearrangements at cytogenetic analysis. A truncated transcript (exons 1-3), but not a full-length (exons 1-5) transcript, was detected in three of them, suggesting activation through an intragenic rearrangement. One soft tissue chondroma had a t(3;12)(q27;q15), and the RT-PCR analysis revealed an HMGA2-LPP fusion transcript, composed of HMGA2 exons 1-3 and LPP exons 9-11. An identical fusion transcript previously has been identified in lipoma and pulmonary chondroid hamartoma. In the fourth soft tissue chondroma, a full-length transcript was detected, indicating expression of at least one intact allele. Both skeletal chondromas expressed HMGA2. In one of them, a full-length transcript was detected, even though 12q was cytogenetically unaffected. A truncated or full-length transcript was found in 8 of 13 chondrosarcomas, 4 of which displayed 12q rearrangements. Possibly, cryptic rearrangements were present among the many complex marker chromosomes in the remaining 4 cases.</p>},
  author       = {Dahlén, Anna and Mertens, Fredrik and Rydholm, Anders and Brosjö, Otte and Wejde, Johan and Mandahl, Nils and Panagopoulos, Ioannis},
  issn         = {1530-0285},
  keyword      = {Adolescent,Adult,Aged,Amino Acid Sequence,Base Sequence,Bone Neoplasms,Chondroma,Chondrosarcoma,Cytoskeletal Proteins,Female,Gene Rearrangement,HMGA2 Protein,Humans,In Situ Hybridization, Fluorescence,LIM Domain Proteins,Male,Middle Aged,Molecular Sequence Data,Recombinant Fusion Proteins,Soft Tissue Neoplasms,Journal Article,Research Support, Non-U.S. Gov't},
  language     = {eng},
  number       = {11},
  pages        = {1132--1140},
  publisher    = {Nature Publishing Group},
  series       = {Modern Pathology},
  title        = {Fusion, disruption, and expression of HMGA2 in bone and soft tissue chondromas},
  url          = {http://dx.doi.org/10.1097/01.MP.0000092954.42656.94},
  volume       = {16},
  year         = {2003},
}