About: Jumping-like translocation-a rare chromosomal rearrangement in a patient with Burkitt lymphoma/leukemia     Goto   Sponge   NotDistinct   Permalink

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Description
  • Chromosomal translocations are acquired genetic rearrangements in human cancers. Jumping translocations are rare nonreciprocal rearrangements involving the same donor chromosome segment translocated to two or more recipient chromosomes. In this report, we describe a patient with Burkitt lymphoma/leukemia (BL) and a complex karyotype including a t(2;8)(p12;q24), copy-neutral loss of heterozygosity at 17p13.1-p13.3 and 19q13.1-q13.2, trisomy 20, and two uncommon chromosomal aberrations. The first uncommon aberration was a complex rearrangement of chromosome 15 (probably the consequence of chromothripsis) masked by an apparently balanced reciprocal translocation, t(11;15)(p11.2;q21). The second one was a special type of unbalanced %22vice versa%22 jumping translocation, which involved the same acceptor chromosome arm (13q) and various donor chromosome segments. It is unclear whether both atypical rearrangements are the consequence of the TP53 alteration or whether assumed chromothripsis influenced the development of the jumping-like translocation. However, the presence of the t(11;15)(p11.2;q21) in all pathological cells suggests that it occurred in the early stage of the disease, whereas the jumping-like translocation, as an additional change, subsequently accelerated the progression of the disease.
  • Chromosomal translocations are acquired genetic rearrangements in human cancers. Jumping translocations are rare nonreciprocal rearrangements involving the same donor chromosome segment translocated to two or more recipient chromosomes. In this report, we describe a patient with Burkitt lymphoma/leukemia (BL) and a complex karyotype including a t(2;8)(p12;q24), copy-neutral loss of heterozygosity at 17p13.1-p13.3 and 19q13.1-q13.2, trisomy 20, and two uncommon chromosomal aberrations. The first uncommon aberration was a complex rearrangement of chromosome 15 (probably the consequence of chromothripsis) masked by an apparently balanced reciprocal translocation, t(11;15)(p11.2;q21). The second one was a special type of unbalanced %22vice versa%22 jumping translocation, which involved the same acceptor chromosome arm (13q) and various donor chromosome segments. It is unclear whether both atypical rearrangements are the consequence of the TP53 alteration or whether assumed chromothripsis influenced the development of the jumping-like translocation. However, the presence of the t(11;15)(p11.2;q21) in all pathological cells suggests that it occurred in the early stage of the disease, whereas the jumping-like translocation, as an additional change, subsequently accelerated the progression of the disease. (en)
Title
  • Jumping-like translocation-a rare chromosomal rearrangement in a patient with Burkitt lymphoma/leukemia
  • Jumping-like translocation-a rare chromosomal rearrangement in a patient with Burkitt lymphoma/leukemia (en)
skos:prefLabel
  • Jumping-like translocation-a rare chromosomal rearrangement in a patient with Burkitt lymphoma/leukemia
  • Jumping-like translocation-a rare chromosomal rearrangement in a patient with Burkitt lymphoma/leukemia (en)
skos:notation
  • RIV/00064165:_____/14:10284174!RIV15-GA0-00064165
http://linked.open...avai/riv/aktivita
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  • P(GBP302/12/G157)
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  • 5
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  • 23661
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  • RIV/00064165:_____/14:10284174
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  • FISH; 13q deletion; chromothripsis; jumping translocation; Burkitt lymphoma/leukemia (en)
http://linked.open.../riv/klicoveSlovo
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  • US - Spojené státy americké
http://linked.open...ontrolniKodProRIV
  • [D38F43256E75]
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  • Cancer genetics
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  • 207
http://linked.open...iv/tvurceVysledku
  • Brezinova, Jana
  • Michalová, Kyra
  • Zemanová, Zuzana
  • Berková, Adéla
  • Šárová, Iveta
  • Lhotská, Halka
  • Ransdorfova, Sarka
  • Soukupová, Jacqueline
http://linked.open...ain/vavai/riv/wos
  • 000340014200007
issn
  • 2210-7762
number of pages
http://bibframe.org/vocab/doi
  • 10.1016/j.cancergen.2014.05.001
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