Jumping translocation: an unusual cytogenetic finding in myeloid neoplasm

Borri, Daniela; Ommati, Larissa Veloso Mendes; Velloso, Elvira Deolinda Rodrigues

doi:10.1016/j.htct.2021.06.001

Keywords: cytogenetic; Jumping translocation; karyotype

Bone marrow karyotype of 86-year-old woman with myelofibrosis evolution from essential thrombocythemia showed unbalanced translocation involving chromosome 1 and acrocentric chromosomes 14, 15 and 22 (Figure 1), configuring the phenomenon of Jumping translocation (JT). Twenty metaphases showed: 46,XX,der(14)t(1;14)(q12;p11.2)[11]/46, XX,der(22)t(1;22)(q12;p11.2)[3]/46,XX,der(15)t(1;15)(q12;p11.2) [2]/46,XX[4].

Figure 1
A-G- banding Karyotype, showing ideogram of 1q in blue, 14q in yellow, 15q in red and 22q in green. B-Partial Karyo-type with normal chromosome 14, der(14)t(1;14)(q12;p11.2) and schematic model blue/yellow of der(14). C- Partial Karyotype with normal chromosome 15, der(15)t(1;15)(q12;p11.2) and schematic model blue/red of der(15). D- Partial Karyotype with normal chromosome 22, der(22)t(1;22)(q12;p11.2) and schematic model blue/green of der(22).

JT is a rare cytogenetic aberration that occurs when a donor segment chromosome breaks off and merges into two or more receptor chromosomes, resulting in an unbalanced translocation with gain of the donor chromosome segment.¹ This phenomenon shows genetic instability, despite not being associated with other chromosomal abnormalities and is associated with an unfavorable prognosis in myeloid neoplasms.² Among the chromosomal gains, the most frequent is the partial trisomy 1q, as in the case described.

REFERENCES

¹ Coulture T, Amato K, DiAdamo A, Li P. Jumping Translocation of 1q in Myelodisplastic Syndrome and Acute Myeloid Leukemia: Report of three Cases and Review of Literature. Case Rep Genet. 2018;2018:8296478.
² Najfeld V, Tripodi J, Scalise A, Silverman LR, Silver RT, Fruchtman S, et al. Jumping translocations of the long arms of chromosome 1 in myeloid malignancies is associated with a high risk of transformation to acute myeloid leukaemia. Br J Haematol. 2010;151(3):288–91.

Publication Dates

Publication in this collection
12 Dec 2022
Date of issue
2022

History

Received
16 Mar 2021
Accepted
07 June 2021
Published
14 July 2021

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial No Derivative License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium provided the original work is properly cited and the work is not changed in any way.

[1] ¹ Coulture T, Amato K, DiAdamo A, Li P. Jumping Translocation of 1q in Myelodisplastic Syndrome and Acute Myeloid Leukemia: Report of three Cases and Review of Literature. Case Rep Genet. 2018;2018:8296478.

[2] ² Najfeld V, Tripodi J, Scalise A, Silverman LR, Silver RT, Fruchtman S, et al. Jumping translocations of the long arms of chromosome 1 in myeloid malignancies is associated with a high risk of transformation to acute myeloid leukaemia. Br J Haematol. 2010;151(3):288–91.