title: Jumping translocations in myelodysplastic syndromes.
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.
authors.affiliation: 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.
authors.forename: Cecilia C S
authors.initials: CCS
authors.lastname: Yeung
authors.affiliation: Clinical Research Division, Fred Hutchinson Cancer Research Center, 1100 Fairview ave N, Seattle, WA 98109, USA.
authors.forename: H Joachim
authors.initials: HJ
authors.lastname: Deeg
authors.affiliation: Department of Laboratory Medicine, University of Washington, 1959 NE Pacific St, Seattle, WA 98195, USA.
authors.forename: Colin
authors.initials: C
authors.lastname: Pritchard
authors.affiliation: Department of Laboratory Medicine, University of Washington, 1959 NE Pacific St, Seattle, WA 98195, USA.
authors.forename: David
authors.initials: D
authors.lastname: Wu
authors.affiliation: 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.
authors.forename: Min
authors.initials: M
authors.lastname: Fang
mesh_terms: D006801:Humans; D007621:Karyotyping; D009190:Myelodysplastic Syndromes / Q000235:genetics*; D012189:Retrospective Studies; D014178:Translocation, Genetic
keywords: CGAT; MDS; NGS; jumping translocation; myelodysplasia