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ETV6 rearrangements in patients with infantile fibrosarcomas and congenital mesoblastic nephromas by fluorescence in situ hybridization

Adem, C ; Gisselsson Nord, David LU ; Cin, P D and Nascimento, A G (2001) In Modern Pathology 14(12). p.1246-1251
Abstract
Congenital mesoblastic nephroma (CMN) and infantile fibrosarcoma (IFS) are two pediatric tumors arising in the kidneys and soft tissues of infants, respectively. Recently, a t(12;15)(p13;q25) resulting in ETV6-NTRK3 gene fusion was detected in patients with IFS and in patients with the cellular type of CMN, suggesting a common pathogenetic pathway. We investigated the presence or absence of ETV6 rearrangements and numerical abnormalities of chromosome 11 by using fluorescence in situ hybridization on paraffin-embedded material from five cases of IFS, two of CMN, and one of mixed type (CMN and IFS) found in our files. In three cases of IFS, we found ETV6 gene rearrangement but a normal copy number of chromosome 11. One case each of IFS, the... (More)
Congenital mesoblastic nephroma (CMN) and infantile fibrosarcoma (IFS) are two pediatric tumors arising in the kidneys and soft tissues of infants, respectively. Recently, a t(12;15)(p13;q25) resulting in ETV6-NTRK3 gene fusion was detected in patients with IFS and in patients with the cellular type of CMN, suggesting a common pathogenetic pathway. We investigated the presence or absence of ETV6 rearrangements and numerical abnormalities of chromosome 11 by using fluorescence in situ hybridization on paraffin-embedded material from five cases of IFS, two of CMN, and one of mixed type (CMN and IFS) found in our files. In three cases of IFS, we found ETV6 gene rearrangement but a normal copy number of chromosome 11. One case each of IFS, the cellular type of CMN, and the mixed type (CMN and IFS) had both abnormalities. In a case of classic CMN, neither trisomy 11 nor gene rearrangement was found. It is possible that trisomy 11 is a later, nonessential event in the pathogenetic process or that this secondary aberration is associated with still-unrecognized clinical or biological characteristics. We confirmed that IFS and the cellular type of CMN are cytogenetically related and can occur synchronously in the same organ. (Less)
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author
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organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Modern Pathology
volume
14
issue
12
pages
1246 - 1251
publisher
Nature Publishing Group
external identifiers
  • pmid:11743047
  • scopus:0035218377
  • pmid:11743047
ISSN
1530-0285
DOI
10.1038/modpathol.3880469
language
English
LU publication?
yes
id
93499512-1a0f-410d-b148-d3eb8b0c1878 (old id 1121761)
date added to LUP
2016-04-01 15:19:50
date last changed
2025-04-04 14:03:29
@article{93499512-1a0f-410d-b148-d3eb8b0c1878,
  abstract     = {{Congenital mesoblastic nephroma (CMN) and infantile fibrosarcoma (IFS) are two pediatric tumors arising in the kidneys and soft tissues of infants, respectively. Recently, a t(12;15)(p13;q25) resulting in ETV6-NTRK3 gene fusion was detected in patients with IFS and in patients with the cellular type of CMN, suggesting a common pathogenetic pathway. We investigated the presence or absence of ETV6 rearrangements and numerical abnormalities of chromosome 11 by using fluorescence in situ hybridization on paraffin-embedded material from five cases of IFS, two of CMN, and one of mixed type (CMN and IFS) found in our files. In three cases of IFS, we found ETV6 gene rearrangement but a normal copy number of chromosome 11. One case each of IFS, the cellular type of CMN, and the mixed type (CMN and IFS) had both abnormalities. In a case of classic CMN, neither trisomy 11 nor gene rearrangement was found. It is possible that trisomy 11 is a later, nonessential event in the pathogenetic process or that this secondary aberration is associated with still-unrecognized clinical or biological characteristics. We confirmed that IFS and the cellular type of CMN are cytogenetically related and can occur synchronously in the same organ.}},
  author       = {{Adem, C and Gisselsson Nord, David and Cin, P D and Nascimento, A G}},
  issn         = {{1530-0285}},
  language     = {{eng}},
  number       = {{12}},
  pages        = {{1246--1251}},
  publisher    = {{Nature Publishing Group}},
  series       = {{Modern Pathology}},
  title        = {{ETV6 rearrangements in patients with infantile fibrosarcomas and congenital mesoblastic nephromas by fluorescence in situ hybridization}},
  url          = {{http://dx.doi.org/10.1038/modpathol.3880469}},
  doi          = {{10.1038/modpathol.3880469}},
  volume       = {{14}},
  year         = {{2001}},
}