Case Reports in Oncology (Sep 2020)

Jumping Translocation in a Patient with Acute Leukemia and Fatal Evolution

  • Irene Sánchez Prieto,
  • Montserrat López Rubio,
  • Eva Arranz,
  • Rosa Ayala,
  • Marta Callejas Charavía,
  • Yolanda Martín Guerrero,
  • Juan José Gil Fernández,
  • Susana Valenciano Martínez,
  • Lucía Castilla García,
  • María Argüello Marina,
  • José María Aspa Cilleruelo,
  • Celia Martínez Vázquez,
  • Julio García Suárez

DOI
https://doi.org/10.1159/000508999
Journal volume & issue
Vol. 13, no. 2
pp. 1026 – 1030

Abstract

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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.

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