Open AccessJumping Translocation in a Patient with Acute Leukemia and Fatal Evolution
Author(s) -
Sánchez Prieto Irene,
López Rubio Montserrat,
Arranz Eva,
Ayala Rosa,
Callejas Charavía Marta,
Martín Guerrero Yolanda,
Gil Fernández Juan José,
Valenciano Martínez Susana,
Castilla García Lucía,
Argüello Marina María,
Aspa Cilleruelo José María,
Martínez Vázquez Celia,
García Suárez Julio
Publication year - 2020
Publication title -
case reports in oncology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.365
H-Index - 19
ISSN - 1662-6575
DOI - 10.1159/000508999
Subject(s) - case report
Jumping translocations are uncommon cytogenetic abnormalities in which a segment of a donor chromosome, often 1q, is transferred to two or more receptor chromosomes. We describe the case of a 64-year-old man with a history of acute myeloid leukemia associated with myelodysplastic syndrome, who presented with a relapse of the leukemia and, concomitantly, with the appearance of a jumping translocation involving chromosome 1q. The patient had a poor clinical course without the possibility of performing targeted treatment, and he died 5 months after relapse. Jumping translocations are a reflection of chromosomal instability, and they could be related to epigenetic alterations such as pericentromeric chromatin hypomethylation, telomere shortening, or pathogenic variants of the TP53 gene. The existing data suggests a poor clinical outcome, a high risk of disease progression, and an unfavorable prognosis. More molecular studies are required to gain an in-depth understanding of the genetic mechanism underlying these alterations and their clinical significance and to be able to apply an optimal treatment to patients.