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Statements

Subject Item
n2:RIV%2F00064165%3A_____%2F14%3A10284174%21RIV15-GA0-00064165
rdf:type
n13:Vysledek skos:Concept
rdfs:seeAlso
http://dx.doi.org/10.1016/j.cancergen.2014.05.001
dcterms: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.
dcterms: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
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
skos:notation
RIV/00064165:_____/14:10284174!RIV15-GA0-00064165
n3:aktivita
n16:P
n3:aktivity
P(GBP302/12/G157)
n3:cisloPeriodika
5
n3:dodaniDat
n8:2015
n3:domaciTvurceVysledku
n6:8307946 n6:4073029 n6:7529805 n6:9688064 n6:1129244
n3:druhVysledku
n14:J
n3:duvernostUdaju
n18:S
n3:entitaPredkladatele
n9:predkladatel
n3:idSjednocenehoVysledku
23661
n3:idVysledku
RIV/00064165:_____/14:10284174
n3:jazykVysledku
n15:eng
n3:klicovaSlova
FISH; 13q deletion; chromothripsis; jumping translocation; Burkitt lymphoma/leukemia
n3:klicoveSlovo
n4:Burkitt%20lymphoma%2Fleukemia n4:13q%20deletion n4:jumping%20translocation n4:FISH n4:chromothripsis
n3:kodStatuVydavatele
US - Spojené státy americké
n3:kontrolniKodProRIV
[D38F43256E75]
n3:nazevZdroje
Cancer genetics
n3:obor
n11:FD
n3:pocetDomacichTvurcuVysledku
5
n3:pocetTvurcuVysledku
8
n3:projekt
n19:GBP302%2F12%2FG157
n3:rokUplatneniVysledku
n8:2014
n3:svazekPeriodika
207
n3:tvurceVysledku
Berková, Adéla Zemanová, Zuzana Soukupová, Jacqueline Šárová, Iveta Michalová, Kyra Brezinova, Jana Ransdorfova, Sarka Lhotská, Halka
n3:wos
000340014200007
s:issn
2210-7762
s:numberOfPages
5
n17:doi
10.1016/j.cancergen.2014.05.001