| Autor: |
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 |
| Jazyk: |
angličtina |
| Rok vydání: |
2020 |
| Předmět: |
|
| Zdroj: |
Case Reports in Oncology, Vol 13, Iss 2, Pp 1026-1030 (2020) |
| Druh dokumentu: |
article |
| ISSN: |
1662-6575 |
| DOI: |
10.1159/000508999 |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
|
