Jumping-like translocation-a rare chromosomal rearrangement in a patient with Burkitt lymphoma/leukemia
Jazyk angličtina Země Spojené státy americké Médium print-electronic
Typ dokumentu kazuistiky, časopisecké články, práce podpořená grantem
PubMed
24957271
DOI
10.1016/j.cancergen.2014.05.001
PII: S2210-7762(14)00087-8
Knihovny.cz E-zdroje
- Klíčová slova
- 13q deletion, Burkitt lymphoma/leukemia, FISH, chromothripsis, jumping translocation,
- MeSH
- Burkittův lymfom diagnóza genetika MeSH
- chromozomální delece MeSH
- chromozomální poruchy genetika MeSH
- dospělí MeSH
- lidé MeSH
- lidské chromozomy, pár 11 genetika MeSH
- lidské chromozomy, pár 13 genetika MeSH
- lidské chromozomy, pár 15 genetika MeSH
- lidské chromozomy, pár 20 genetika MeSH
- mozaicismus MeSH
- nádorový supresorový protein p53 genetika MeSH
- translokace genetická * MeSH
- trizomie genetika MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
- práce podpořená grantem MeSH
- Názvy látek
- nádorový supresorový protein p53 MeSH
- TP53 protein, human MeSH Prohlížeč
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 "vice versa" 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.
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