2013
DOI: 10.1002/hon.2089
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The translocation t(2;11)(p21;q23) without MLL gene rearrangement—a possible marker of good prognosis in myelodysplastic syndrome patients

Abstract: The translocation t(2;11)(p21;q23) is associated with de novo myelodysplastic syndromes (MDS) and has an overall frequency of approximately 1%. The outcome of MDS patients with this translocation is not clear until now, because most of the clinical data addressing the t(2;11)(p21;q23) has been collected without investigating the status of the mixed lineage leukemia (MLL) gene. In this report, we present seven new patients with MDS diagnosis and the t(2;11)(p21;q23) in bone marrow cells; all of them without MLL… Show more

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Cited by 7 publications
(13 citation statements)
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“…Tanaka et al [13] clarified that the 11q23 breakpoint of t(11;12)(q23;q11) in AML M2 was just centromeric to MLL . Furthermore, the heterogeneity of the 11q23 breakpoints in the same translocation has been revealed in MDS/AML with t(2;11)(p21;q23) [14,15]. Accordingly, it is essential to examine MLL rearrangement in cases with t(11;19)(q23;q13) as well as t(2;11)(p21;q23), irrespective of the diagnosis.…”
Section: Figmentioning
confidence: 99%
“…Tanaka et al [13] clarified that the 11q23 breakpoint of t(11;12)(q23;q11) in AML M2 was just centromeric to MLL . Furthermore, the heterogeneity of the 11q23 breakpoints in the same translocation has been revealed in MDS/AML with t(2;11)(p21;q23) [14,15]. Accordingly, it is essential to examine MLL rearrangement in cases with t(11;19)(q23;q13) as well as t(2;11)(p21;q23), irrespective of the diagnosis.…”
Section: Figmentioning
confidence: 99%
“…None of the two AML cases with 11q23+/ MLL − reported previously showed monocytic differentiation, one with t(11;22)(q23;q11) was diagnosed with AML with maturation,16 and the other with t(11;19)(q23;q13) was diagnosed with AML with myelodysplasia-related changes 18. MDS with t(2;11) without MLL rearrangement has been reported previously,19 these patients were often associated with del(5q) and megakaryocytic dysplasia and had a good outcome. However, both MDS cases in our cohort, one with t(6;11) in a complex karyotype and the other with t(2;11) and del(5q), were transformed into AML and deceased soon after.…”
Section: Discussionmentioning
confidence: 83%
“…T(2;11)(p21;q23) without MLL rearrangement has been reported in patients with MDS and acute leukaemia,19 20 and like our case 8, most reported cases showed a breakpoint distal to the MLL locus20 with over half of the cases accompanied by del(5q) 19. Though the target gene is still unknown, cases with t(2;11)(q21;q23)/ MLL − showed strong upregulation of miR-125b that might interfere with progenitor cell differentiation 20.…”
Section: Discussionmentioning
confidence: 99%
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“…However, since the identification and reporting of recurrent chromosomal translocations are essential to provide insights into the mechanisms of pathogenesis and identify genes involved in the pathogenesis of MDS, the role of cytogenetics including the study of genomic structure and function will remain important. Novel and recurrent translocations have been reported in a large series of patients [7,8]; however, only a few studies have addressed the prognostic impact of chromosomal translocations [911]. …”
Section: Introductionmentioning
confidence: 99%