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Deregulation of HMGA2 in an aggressive angiomyxoma with t(11;12)(q23;q15)

Micci, Francesca ; Panagopoulos, Ioannis LU ; Bjerkehagen, Bodil and Heim, Sverre LU (2006) In Virchows Archiv: an international journal of pathology 448(6). p.838-842
Abstract
Aggressive angiomyxoma is a soft-tissue neoplasm with a predilection for the pelvic and perineal regions and a tendency to recur locally. Cytogenetic data on this tumor type are limited to five cases, three of which showed rearrangement of chromosomal bands 12q13-15. Molecular investigation of two of the tumors identified the HMGA2 gene as the target of the 12q rearrangements. However, the two previously analyzed tumors were different at the molecular level: in one, the rearrangement of 12q13-15 resulted in a fusion product, whereas, in the second case, the breakpoint was telomeric (3') to the HMGA2, leaving the gene intact although expressed in its entire length. To shed more light on the pathobiology of aggressive angiomyxoma and to... (More)
Aggressive angiomyxoma is a soft-tissue neoplasm with a predilection for the pelvic and perineal regions and a tendency to recur locally. Cytogenetic data on this tumor type are limited to five cases, three of which showed rearrangement of chromosomal bands 12q13-15. Molecular investigation of two of the tumors identified the HMGA2 gene as the target of the 12q rearrangements. However, the two previously analyzed tumors were different at the molecular level: in one, the rearrangement of 12q13-15 resulted in a fusion product, whereas, in the second case, the breakpoint was telomeric (3') to the HMGA2, leaving the gene intact although expressed in its entire length. To shed more light on the pathobiology of aggressive angiomyxoma and to investigate the molecular mechanisms behind the involvement of the HMGA2 gene in this tumor type (fusion transcript vs deregulated expression), we investigated, cytogenetically and with molecular techniques, one such tumor which presented a t(11;12)(q23;q15) as the sole karyotypic aberration. FISH analyses demonstrated no structural alteration of HMGA2 at the cytogenetic level; however, expression of the full-length gene was detected molecularly. (Less)
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author
; ; and
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
aggressive angiomyxoma, cytogenetic HMGA2
in
Virchows Archiv: an international journal of pathology
volume
448
issue
6
pages
838 - 842
publisher
Springer
external identifiers
  • pmid:16568309
  • wos:000239310800013
  • scopus:33744732477
ISSN
1432-2307
DOI
10.1007/s00428-006-0186-5
language
English
LU publication?
yes
id
a89011c5-72a8-4dba-b0c9-c1df48a90232 (old id 399286)
date added to LUP
2016-04-01 15:20:50
date last changed
2021-10-06 02:21:50
@article{a89011c5-72a8-4dba-b0c9-c1df48a90232,
  abstract     = {Aggressive angiomyxoma is a soft-tissue neoplasm with a predilection for the pelvic and perineal regions and a tendency to recur locally. Cytogenetic data on this tumor type are limited to five cases, three of which showed rearrangement of chromosomal bands 12q13-15. Molecular investigation of two of the tumors identified the HMGA2 gene as the target of the 12q rearrangements. However, the two previously analyzed tumors were different at the molecular level: in one, the rearrangement of 12q13-15 resulted in a fusion product, whereas, in the second case, the breakpoint was telomeric (3') to the HMGA2, leaving the gene intact although expressed in its entire length. To shed more light on the pathobiology of aggressive angiomyxoma and to investigate the molecular mechanisms behind the involvement of the HMGA2 gene in this tumor type (fusion transcript vs deregulated expression), we investigated, cytogenetically and with molecular techniques, one such tumor which presented a t(11;12)(q23;q15) as the sole karyotypic aberration. FISH analyses demonstrated no structural alteration of HMGA2 at the cytogenetic level; however, expression of the full-length gene was detected molecularly.},
  author       = {Micci, Francesca and Panagopoulos, Ioannis and Bjerkehagen, Bodil and Heim, Sverre},
  issn         = {1432-2307},
  language     = {eng},
  number       = {6},
  pages        = {838--842},
  publisher    = {Springer},
  series       = {Virchows Archiv:  an international journal of pathology},
  title        = {Deregulation of HMGA2 in an aggressive angiomyxoma with t(11;12)(q23;q15)},
  url          = {http://dx.doi.org/10.1007/s00428-006-0186-5},
  doi          = {10.1007/s00428-006-0186-5},
  volume       = {448},
  year         = {2006},
}