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 gene rearrangement. They were found in two databases consisting of 1185 patients of two Czech institutions. These patients tended to be younger and showed a strong male predominance. A cytological and histological assessment of bone marrow at diagnosis revealed only mild MDS with marked dysplasia in megakaryopoiesis. Similar to other primary abnormalities in MDS (e.g. deletion of 11q), the t(2;11)(p21;q23) was frequently associated with deletion of 5q. Our results stress the common clinicopathological features of this entity and indicate that the t(2;11)(p21;q23) may be associated with a good prognosis for MDS patients (median survival 72 months).

Translocation t(11;19)(q23;q13.1) without <b><i>MLL </i></b>Rearrangement in Acute Myeloid Leukemia: Heterogeneity of the 11q23 Breakpoints

“…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.…”

Acute leukaemia and myelodysplastic syndromes with chromosomal rearrangement involving 11q23 locus, but notMLLgene

“…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.…”

“…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.…”

“…Cases with 11q23+/ MLL − have been sporadically reported as single case reports, like t(1;11)(p32;q23);16 17 t(11;15)(q23;q14);23 t(11;19)(q23;q13.1)18 and t(11;22)(q23;q11),16 or small cases series of t(2;11)(p21;q23) in patients with CMML,17 MDS,19 B-ALL23 and AML 16 18. Like the cases in our cohort, reported cases showed different clinical, pathological and immunophenotypical features comparing to neoplasms with MLL rearrangement.…”

Prognostic Impact of IPSS-R and Chromosomal Translocations in 751 Korean Patients with Primary Myelodysplastic Syndrome

“…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 [9–11]. …”