Jumping translocations in myelodysplastic syndromes

- Jumping translocations (JT) are rare in patients with MDS, with only 9 cases described in the literature and 6 cases from our institution.
- Cases of JT-MDS often have a poor prognosis with high rates of progression to AML, relapse and mortality.
- Using synergistic information from CGAT and targeted NGS, our data suggests JT-MDS have abnormalities not seen by conventional karyotype and a complex mutational landscape.

Jumping translocations (JT) have been identified in numerous malignancies, including leukemia, but infrequently in patients with myelodysplastic syndromes (MDS). The responsible genetic region has been mapped to the JTB gene at 1q21, but breakpoints involving other chromosomal loci, such as 3q and 11q, have been described as well. We have characterized the pathological and mutational landscape, and the clinical course of 6 new MDS patients with jumping mutations using chromosome genomic array testing (CGAT) and target gene panel next generation sequencing. In addition, we have performed a literature review for other MDS cases with JTs as defined by ISCN 2013. Results support the concept that MDS in patients with jumping translocations has a poor prognosis with a high risk of progression to leukemia, and suggest that these patients warrant aggressive therapy, including HCT, early in the disease course.