title: 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: Institute of Hematology and Blood Transfusion, Prague, Czech Republic; Center of Oncocytogenetics, Institute of Medical Biochemistry and Laboratory Diagnostics, General Faculty Hospital and First Faculty of Medicine of Charles University, Prague, Czech Republic. Electronic address: iveta.sarova@uhkt.cz.
authors: Iveta
authors: I
authors: Sarova
authors: Institute of Hematology and Blood Transfusion, Prague, Czech Republic.
authors: Jana
authors: J
authors: Brezinova
authors: Center of Oncocytogenetics, Institute of Medical Biochemistry and Laboratory Diagnostics, General Faculty Hospital and First Faculty of Medicine of Charles University, Prague, Czech Republic.
authors: Halka
authors: H
authors: Lhotska
authors: Center of Oncocytogenetics, Institute of Medical Biochemistry and Laboratory Diagnostics, General Faculty Hospital and First Faculty of Medicine of Charles University, Prague, Czech Republic.
authors: Adela
authors: A
authors: Berkova
authors: Institute of Hematology and Blood Transfusion, Prague, Czech Republic.
authors: Sarka
authors: S
authors: Ransdorfova
authors: Center of Oncocytogenetics, Institute of Medical Biochemistry and Laboratory Diagnostics, General Faculty Hospital and First Faculty of Medicine of Charles University, Prague, Czech Republic.
authors: Zuzana
authors: Z
authors: Zemanova
authors: Institute of Hematology and Blood Transfusion, Prague, Czech Republic.
authors: Jacqueline
authors: J
authors: Soukupova
authors: Institute of Hematology and Blood Transfusion, Prague, Czech Republic; Center of Oncocytogenetics, Institute of Medical Biochemistry and Laboratory Diagnostics, General Faculty Hospital and First Faculty of Medicine of Charles University, Prague, Czech Republic.
authors: Kyra
authors: K
authors: Michalova
mesh_terms: D000328:Adult; D002051:Burkitt Lymphoma / Q000175:diagnosis / Q000235:genetics*; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000235:genetics; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D002890:Chromosomes, Human, Pair 20 / Q000235:genetics; D005260:Female; D006801:Humans; D009030:Mosaicism; D014178:Translocation, Genetic; D014314:Trisomy / Q000235:genetics; D016159:Tumor Suppressor Protein p53 / Q000235:genetics
chemical_list: C495901:TP53 protein, human; D016159:Tumor Suppressor Protein p53
keywords: 13q deletion; Burkitt lymphoma/leukemia; FISH; chromothripsis; jumping translocation