Jumping translocations in myelodysplastic syndromes

Cecilia C S Yeung; H Joachim Deeg; Colin Pritchard; David Wu; Min Fang

doi:10.1016/j.cancergen.2016.08.002

Jumping translocations in myelodysplastic syndromes

Cancer Genet. 2016 Sep;209(9):395-402. doi: 10.1016/j.cancergen.2016.08.002. Epub 2016 Aug 8.

Authors

Cecilia C S Yeung¹, H Joachim Deeg², Colin Pritchard³, David Wu³, Min Fang⁴

Affiliations

¹ Clinical Research Division, Fred Hutchinson Cancer Research Center, 1100 Fairview ave N, Seattle, WA 98109, USA; Department of Laboratory Medicine, University of Washington, 1959 NE Pacific St, Seattle, WA 98195, USA. Electronic address: cyeung@FHCRC.org.
² Clinical Research Division, Fred Hutchinson Cancer Research Center, 1100 Fairview ave N, Seattle, WA 98109, USA.
³ Department of Laboratory Medicine, University of Washington, 1959 NE Pacific St, Seattle, WA 98195, USA.
⁴ Clinical Research Division, Fred Hutchinson Cancer Research Center, 1100 Fairview ave N, Seattle, WA 98109, USA; Department of Pathology, University of Washington, 1959 NE Pacific St, Seattle, WA 98195, USA; Department of Laboratory Medicine, University of Washington, 1959 NE Pacific St, Seattle, WA 98195, USA.

Abstract

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.

Keywords: CGAT; MDS; NGS; jumping translocation; myelodysplasia.

Publication types

Research Support, N.I.H., Extramural

MeSH terms

Humans
Karyotyping
Myelodysplastic Syndromes / genetics*
Retrospective Studies
Translocation, Genetic*

Abstract

Publication types

MeSH terms

Grants and funding