Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2018 Sep 9:2018:8296478.
doi: 10.1155/2018/8296478. eCollection 2018.

Jumping Translocations of 1q in Myelodysplastic Syndrome and Acute Myeloid Leukemia: Report of Three Cases and Review of Literature

T Couture  1   2 , K Amato  1 , A DiAdamo  1 , P Li  1
Affiliations
Case Reports

Jumping Translocations of 1q in Myelodysplastic Syndrome and Acute Myeloid Leukemia: Report of Three Cases and Review of Literature

T Couture et al. Case Rep Genet. .

Abstract

Jumping translocations of 1q refer to the break-off of chromosome 1q as a donor fusing to two or more recipient chromosomes. We detected jumping translocations of 1q in three patients with initial diagnosis of myelodysplastic syndrome (MDS) and later progression to acute myeloid leukemia (AML). Review of literature found jumping translocations of 1q in 30 reported cases of MDS and AML. The cytogenetic findings from these 33 cases showed that seven cases had a stemline clone and 26 cases had de novo jumping translocations of 1q in which 5% of cell lineages had additional structural rearrangements. In 75% of cases, the 1q donor jumped to the short arm of recipient acrocentric chromosomes. Approximately 82% of the fusions occurred in the telomeric regions of short and long arms and 18% occurred in the pericentric or interstitial regions of recipient chromosomes. Hypomethylation of the donor 1q pericentromeric region and shortened telomeres in recipient chromosomes were associated with the formation of jumping translocations. Jumping translocations of 1q as an indication of chromosomal instability pose high risk for progression of MDS to AML and a poor prognosis. Further understanding of underlying genomic defects and their clinical significance will improve overall treatment and patient care.

PubMed Disclaimer

Figures

Figure 1
Figure 1
(a) Jumping translocations of 1q observed in the three patients. The jumping translocation in each cell lineage is shown inside a circle. Arrow points to an additional rearrangement evolved in a cell lineage. (b) Epigenetic alterations in the formation of jumping translocations of 1q. Hypomethylation of 1q12 pericentric heterochromatin induced chromatin decondensation, triradial formation, and break-off of 1q donor segment. Loss of telomeric function by variant telomeric repeats and shortened telomeres produced instable recipient chromosomes. The successive fusions between break-off donor segment and recipient chromosomes resulted in clonal abnormalities with cell linages sharing gains of donor chromosome segment.
Figure 2
Figure 2
Patterns of donor and recipient chromosomes in jumping translocations of 1q of MDS and AML patients.
See this image and copyright information in PMC

References

    1. Asahara A., Morioka E., Hisano S., et al. A case of acute monocytic leukemia with chromosome abnormality, jumping translocation. Japanese Journal Clinical Hematology. 1991;32:p. 1244.
    1. Shikano T., Arioka H., Kobayashi R., Naito H., Ishikawa Y. Jumping translocations of 1q in Burkitt lymphoma and acute nonlymphocytic leukemia. Cancer Genetics and Cytogenetics. 1993;71(1):22–26. doi: 10.1016/0165-4608(93)90198-U. - DOI - PubMed
    1. Najfeld V., Hauschildt B., Scalise A., et al. Jumping translocations in leukemia. Leukemia. 1995;9(4):634–639. - PubMed
    1. Hatakeyama S., Fujita K., Mori H., Omine M., Ishikawa F. Shortened telomeres involved in a case with a jumping translocation at 1q21. Blood. 1998;91(5):1514–1519. - PubMed
    1. Reddy K., Parsons L., Colman L. Jumping Translocations Involving Chromosome 1q in a Patient with Crohn Disease and Acute Monocytic Leukemia. Cancer Genetics and Cytogenetics. 1999;109(2):144–149. doi: 10.1016/S0165-4608(98)00162-9. - DOI - PubMed

Publication types