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Ring chromosomes and low-grade gene amplification in an atypical lipomatous tumor with minimal nuclear atypia

Storlazzi, Tiziana LU ; Mertens, Fredrik LU ; Domanski, Henryk LU ; Fletcher, CDM; Wiegant, J and Mandahl, Nils LU (2003) In International Journal of Oncology 23(1). p.67-71
Abstract
Atypical lipomatous tumors (ALTs) are characterized by supernumerary ring chromosomes and/or giant marker chromosomes, which typically are composed of interspersed, amplified 12q-sequences, are C-band negative, lack a-satellite sequences, and display high copy numbers of several oncogenes, including HMGA2 (a.k.a. HMGIC) and MDM2, from the 12q13-15 region. In the present study, we report the cytogenetic and molecular genetic findings in an ALT with minimal nuclear atypia from a 16-year-old boy. At G-banding analysis, 1-3 supernumerary ring chromosomes were detected. Combined binary ratio labeling fluorescence in situ hybridization (COBRA-FISH) showed that the rings were entirely composed of material from chromosome 12, and by further FISH... (More)
Atypical lipomatous tumors (ALTs) are characterized by supernumerary ring chromosomes and/or giant marker chromosomes, which typically are composed of interspersed, amplified 12q-sequences, are C-band negative, lack a-satellite sequences, and display high copy numbers of several oncogenes, including HMGA2 (a.k.a. HMGIC) and MDM2, from the 12q13-15 region. In the present study, we report the cytogenetic and molecular genetic findings in an ALT with minimal nuclear atypia from a 16-year-old boy. At G-banding analysis, 1-3 supernumerary ring chromosomes were detected. Combined binary ratio labeling fluorescence in situ hybridization (COBRA-FISH) showed that the rings were entirely composed of material from chromosome 12, and by further FISH analysis with locus-specific probes it was revealed that they consisted of two tandemly arranged copies of the segment 12p11.2-p13.2 to 12q21.2-q23.1. Within that segment of chromosome 12, there was a small deletion including the HMGA2 locus. There was no variation in ring size and no interphase bridges could be detected, indicating that the ring chromosomes were mitotically relatively stable. The present case thus adds support to the concept that there exists a subset of ALT with limited or minimal nuclear atypia and low-level amplification of 12q sequences, further suggesting the possibility of a molecular genetic continuum between lipoma and classical examples of ALT. Furthermore, the present data strongly imply that it is the composition of the rings rather than the ring chromosome formation as such that causes the genetic instability and nuclear atypia frequently seen in ALTs. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
ring chromosome, chromosome 12, atypical lipomatous tumor, lipoma, gene, amplification
in
International Journal of Oncology
volume
23
issue
1
pages
67 - 71
publisher
D.A. Spandidos
external identifiers
  • pmid:12792777
  • wos:000183412300007
  • scopus:1542435963
ISSN
1019-6439
language
English
LU publication?
yes
id
42d2dca6-99f3-4a0b-afed-64fe979f89e7 (old id 308894)
date added to LUP
2007-09-22 12:57:33
date last changed
2018-01-07 09:23:48
@article{42d2dca6-99f3-4a0b-afed-64fe979f89e7,
  abstract     = {Atypical lipomatous tumors (ALTs) are characterized by supernumerary ring chromosomes and/or giant marker chromosomes, which typically are composed of interspersed, amplified 12q-sequences, are C-band negative, lack a-satellite sequences, and display high copy numbers of several oncogenes, including HMGA2 (a.k.a. HMGIC) and MDM2, from the 12q13-15 region. In the present study, we report the cytogenetic and molecular genetic findings in an ALT with minimal nuclear atypia from a 16-year-old boy. At G-banding analysis, 1-3 supernumerary ring chromosomes were detected. Combined binary ratio labeling fluorescence in situ hybridization (COBRA-FISH) showed that the rings were entirely composed of material from chromosome 12, and by further FISH analysis with locus-specific probes it was revealed that they consisted of two tandemly arranged copies of the segment 12p11.2-p13.2 to 12q21.2-q23.1. Within that segment of chromosome 12, there was a small deletion including the HMGA2 locus. There was no variation in ring size and no interphase bridges could be detected, indicating that the ring chromosomes were mitotically relatively stable. The present case thus adds support to the concept that there exists a subset of ALT with limited or minimal nuclear atypia and low-level amplification of 12q sequences, further suggesting the possibility of a molecular genetic continuum between lipoma and classical examples of ALT. Furthermore, the present data strongly imply that it is the composition of the rings rather than the ring chromosome formation as such that causes the genetic instability and nuclear atypia frequently seen in ALTs.},
  author       = {Storlazzi, Tiziana and Mertens, Fredrik and Domanski, Henryk and Fletcher, CDM and Wiegant, J and Mandahl, Nils},
  issn         = {1019-6439},
  keyword      = {ring chromosome,chromosome 12,atypical lipomatous tumor,lipoma,gene,amplification},
  language     = {eng},
  number       = {1},
  pages        = {67--71},
  publisher    = {D.A. Spandidos},
  series       = {International Journal of Oncology},
  title        = {Ring chromosomes and low-grade gene amplification in an atypical lipomatous tumor with minimal nuclear atypia},
  volume       = {23},
  year         = {2003},
}