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FISH mapping of i(7q) in acute leukemias and myxoid liposarcoma reveals clustered breakpoints in 7p11.2 : implications for formation and pathogenetic outcome of the idic(7)(p11.2)

Schaad, K; Strömbeck, Bodil LU ; Mandahl, N LU ; Andersen, M K; Heim, S LU ; Mertens, F LU and Johansson, Bertil LU (2006) In Cytogenetic and Genome Research2002-01-01+01:00 114(2). p.126-130
Abstract

Isochromosome 7q - i(7q) - is seen in a wide variety of hematologic malignancies and solid tumors, often as a secondary change to a characteristic primary translocation. Despite its high frequency, nothing is known about the formation and the pathogenetic outcome of this abnormality. To address these issues, we performed a detailed fluorescence in situ hybridization (FISH) investigation of four acute lymphoblastic leukemias, one acute myeloid leukemia, and two myxoid liposarcomas with i(7q). Using FISH with bacterial artificial chromosomes (BACs) mapping between 7p12.2 and 7q11.2, the breakpoints (BPs) in all seven cases were shown to cluster to an approximately 340 kb segment at 7p11.2, covered by the overlapping BAC probes RP11-760D2... (More)

Isochromosome 7q - i(7q) - is seen in a wide variety of hematologic malignancies and solid tumors, often as a secondary change to a characteristic primary translocation. Despite its high frequency, nothing is known about the formation and the pathogenetic outcome of this abnormality. To address these issues, we performed a detailed fluorescence in situ hybridization (FISH) investigation of four acute lymphoblastic leukemias, one acute myeloid leukemia, and two myxoid liposarcomas with i(7q). Using FISH with bacterial artificial chromosomes (BACs) mapping between 7p12.2 and 7q11.2, the breakpoints (BPs) in all seven cases were shown to cluster to an approximately 340 kb segment at 7p11.2, covered by the overlapping BAC probes RP11-760D2 and RP11-10F11. Thus, the i(7q) should formally be designated idic(7) (p11.2). In one of the cases, FISH with fosmids could narrow down the BP further to an 80-kb sequence delineated by G248P81983A10 and G248P8793H7. No known genes are located in the 340-kb BP cluster region, indicating that the idic(7)(p11.2) does not result in a fusion or deregulation of genes in this segment. The pathogenetically important outcome is thus likely to be an altered gene expression because of copy number changes. The clustering of breakpoints might be due to frequent intrachromosomal duplicons in the BP region.

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keywords
Preschool, Aged, Adult, Chromosomes, Chromosome Breakage: genetics, Human, Female, Pair 7: genetics, In Situ Hybridization, Humans, Isochromosomes: genetics, Fluorescence, Liposarcoma, Myxoid: genetics, Leukemia: pathology, Karyotyping, Leukemia: genetics, Child, Acute Disease, 80 and over, Myxoid: pathology, Male, Middle Aged, Research Support, Non-U.S. Gov't, Adolescent
in
Cytogenetic and Genome Research2002-01-01+01:00
volume
114
issue
2
pages
5 pages
publisher
Karger
external identifiers
  • pmid:16825763
  • wos:000238960600002
  • scopus:33745820368
ISSN
1424-859X
DOI
10.1159/000093327
language
English
LU publication?
yes
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0bd00711-e6b4-444a-8edf-b35d89c066b1 (old id 159123)
alternative location
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16825763&dopt=Abstract
date added to LUP
2007-07-09 11:24:33
date last changed
2019-03-27 01:38:36
@article{0bd00711-e6b4-444a-8edf-b35d89c066b1,
  abstract     = {<p>Isochromosome 7q - i(7q) - is seen in a wide variety of hematologic malignancies and solid tumors, often as a secondary change to a characteristic primary translocation. Despite its high frequency, nothing is known about the formation and the pathogenetic outcome of this abnormality. To address these issues, we performed a detailed fluorescence in situ hybridization (FISH) investigation of four acute lymphoblastic leukemias, one acute myeloid leukemia, and two myxoid liposarcomas with i(7q). Using FISH with bacterial artificial chromosomes (BACs) mapping between 7p12.2 and 7q11.2, the breakpoints (BPs) in all seven cases were shown to cluster to an approximately 340 kb segment at 7p11.2, covered by the overlapping BAC probes RP11-760D2 and RP11-10F11. Thus, the i(7q) should formally be designated idic(7) (p11.2). In one of the cases, FISH with fosmids could narrow down the BP further to an 80-kb sequence delineated by G248P81983A10 and G248P8793H7. No known genes are located in the 340-kb BP cluster region, indicating that the idic(7)(p11.2) does not result in a fusion or deregulation of genes in this segment. The pathogenetically important outcome is thus likely to be an altered gene expression because of copy number changes. The clustering of breakpoints might be due to frequent intrachromosomal duplicons in the BP region.</p>},
  author       = {Schaad, K and Strömbeck, Bodil and Mandahl, N and Andersen, M K and Heim, S and Mertens, F and Johansson, Bertil},
  issn         = {1424-859X},
  keyword      = {Preschool,Aged,Adult,Chromosomes,Chromosome Breakage: genetics,Human,Female,Pair 7: genetics,In Situ Hybridization,Humans,Isochromosomes: genetics,Fluorescence,Liposarcoma,Myxoid: genetics,Leukemia: pathology,Karyotyping,Leukemia: genetics,Child,Acute Disease,80 and over,Myxoid: pathology,Male,Middle Aged,Research Support,Non-U.S. Gov't,Adolescent},
  language     = {eng},
  number       = {2},
  pages        = {126--130},
  publisher    = {Karger},
  series       = {Cytogenetic and Genome Research2002-01-01+01:00},
  title        = {FISH mapping of i(7q) in acute leukemias and myxoid liposarcoma reveals clustered breakpoints in 7p11.2 : implications for formation and pathogenetic outcome of the idic(7)(p11.2)},
  url          = {http://dx.doi.org/10.1159/000093327},
  volume       = {114},
  year         = {2006},
}