Jumping-like translocation-a rare chromosomal rearrangement in a patient with Burkitt lymphoma/leukemia.

Abstract

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.

• Authors: Iveta Sarova, Jana Brezinova, Halka Lhotska, Adela Berkova, Sarka Ransdorfova, Zuzana Zemanova, Jacqueline Soukupova, Kyra Michalova
• Journal: Cancer genetics (Cancer Genet) Vol. 207 Issue 5 Pg. 221-5 (May 2014) ISSN: 2210-7762 [Print] United States
• PMID: 24957271 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2014 Elsevier Inc. All rights reserved.

Chemical References

• TP53 protein, human
• Tumor Suppressor Protein p53

Topics

• Adult
• Burkitt Lymphoma (diagnosis, genetics)
• Chromosome Deletion
• Chromosome Disorders (genetics)
• Chromosomes, Human, Pair 11 (genetics)
• Chromosomes, Human, Pair 13 (genetics)
• Chromosomes, Human, Pair 15 (genetics)
• Chromosomes, Human, Pair 20 (genetics)
• Female
• Humans
• Mosaicism
• Translocation, Genetic
• Trisomy (genetics)
• Tumor Suppressor Protein p53 (genetics)