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Updated: Mar 13, 2026
06:39
Use of Hematopoietic Stem Cell Transplantation to Assess the Origin of Myelodysplastic Syndrome
Published on: October 3, 2018
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Jumping translocations in myelodysplastic syndromes
Cecilia C S Yeung1, H Joachim Deeg2, Colin Pritchard3
1Clinical 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.
Cancer Genetics
|October 19, 2016
Summary
Jumping translocations (JT) are rare in myelodysplastic syndromes (MDS) but indicate a poor prognosis. These patients have a high risk of progressing to leukemia and may benefit from early hematopoietic stem cell transplantation (HCT).
Area of Science:
- Genetics
- Hematology
- Oncology
Background:
- Jumping translocations (JT) are chromosomal abnormalities observed in various cancers, but are infrequent in myelodysplastic syndromes (MDS).
- The JTB gene at 1q21 is implicated in JT, with other breakpoints at 3q and 11q also reported.
Purpose of the Study:
- To characterize the pathological and mutational landscape of MDS patients with jumping mutations.
- To evaluate the clinical course and prognosis of MDS with JT.
- To review existing literature on MDS cases with JT.
Main Methods:
- Chromosome genomic array testing (CGAT) and targeted gene panel next-generation sequencing were used for 6 new MDS patients.
- A literature review was conducted for MDS cases with JT according to ISCN 2013 criteria.
Main Results:
- MDS in patients with JT demonstrates a poor prognosis.
- There is a high risk of progression to acute myeloid leukemia (AML).
Conclusions:
- MDS patients with JT warrant aggressive early therapy, including hematopoietic stem cell transplantation (HCT).
- Jumping translocations in MDS are associated with a poor clinical outcome and high leukemic transformation risk.
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