A case of acute myelogenous leukemia: myelodysplastic syndrome with t(2;11)(p21;q23) without MLL rearrangement

Gozzetti, Alessandro; Tozzuoli, Daniela; Crupi, Rosaria; Raspadori, Donatella; Fabbri, Alberto; Lauria, Francesco

doi:10.1016/s0165-4608(03)00013-x

Cited by 6 publications

(4 citation statements)

References 2 publications

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“…Most common translocations are t(4;11) (q21;q23), t(11;19)(q23;p13), and t(9;11)(p22;q23), and are associated with B-ALL, T-ALL, and acute myeloid leukemia, respectively. The translocation t(2;11)(p21;q23) is more frequently seen in myelodysplastic syndrome and acute myeloid leukemia but was also reported in acute lymphoid leukemia by Gozzetti et al, [8] which is similar to our findings.…”

Section: Discussionsupporting

confidence: 93%

Molecular diagnosis of lymphoblastic leukemia

Goud¹,

Dayakar²,

Prasad³

et al. 2013

J Can Res Ther

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The mixed lineage leukemia (MLL) gene at chromosome band 11q23 is commonly involved in reciprocal translocations that is detected in acute leukemia. The MLL gene, commonly known as mixed lineage leukemia or myeloid lymphoid leukemia, has been independently identified and cloned from the 11q23 breakpoint of acute leukemia. We describe a patient with acute lymphoblastic leukemia whose cells had shown reciprocal translocation between short arm (p21) of chromosome 2 and long arm (q23) of chromosome number 11 [t(2;11) (p21;q23)] by cytogenetic analysis. Fluorescence in situ hybridization analysis (FISH) was also performed for reconfirmation with a probe for MLL which showed split signals, hybridizing to both the derivative 2 and 11 chromosomes. Our study confirmed FISH as the most suitable assay for detecting MLL rearrangements because of its sensitivity and speed. It recommended that FISH should be used as complementary to conventional cytogenetic analysis. In conclusion, evaluation of the t(2;11)(p21;q23) was done by molecular clarification and flow cytometry.

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Section: Discussionsupporting

confidence: 93%

Molecular diagnosis of lymphoblastic leukemia

Goud¹,

Dayakar²,

Prasad³

et al. 2013

J Can Res Ther

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“…In 2003, Gozzetti et al . published another review of this topic and added one new case with the t(2;11)(p21;q23) without MLL rearrangement. In that case, AML evolved from MDS 2 years after diagnosis.…”

Section: Discussionmentioning

confidence: 99%

“…In that case, AML evolved from MDS 2 years after diagnosis. The patient was treated with Ara‐C based chemotherapeutic regimens but died within 1 year . The results of a large cohort of 968 patients with MDS were published in the work of Solé et al .…”

Section: Discussionmentioning

confidence: 99%

The translocation t(2;11)(p21;q23) without MLL gene rearrangement—a possible marker of good prognosis in myelodysplastic syndrome patients

Dvořák¹,

Lysák²,

Vokurka³

et al. 2013

Hematological Oncology

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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).

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“…One reported chromosomal translocation in MDS is t(2;11) (p21;q23) [104, 105]. Notably, the t(2;11)(p21;q23) translocation does not result in a novel gene fusion.…”

Section: Mirna In Mdsmentioning

confidence: 99%

Implication of microRNAs in the Pathogenesis of MDS

Fang

Varney²,

Starczynowski³

2012

CPD

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MicroRNAs (miRNAs) are significant regulators of human hematopoietic stem cells (HSC), and their deregulation contributes to hematological malignancies. Myelodysplastic syndromes (MDS) represent a spectrum of hematological disorders characterized by dysfunctional HSC, ineffective blood cell production, progressive marrow failure, and an increased risk of developing acute myeloid leukemia (AML). Although miRNAs have been primarily studied in AML, only recently have similar studies been performed on MDS. In this review, we describe the normal function and expression of miRNAs in human HSC, and describe mounting evidence that deregulation of miRNAs contributes to the pathogenesis of MDS.

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A case of acute myelogenous leukemia: myelodysplastic syndrome with t(2;11)(p21;q23) without MLL rearrangement

Cited by 6 publications

References 2 publications

Molecular diagnosis of lymphoblastic leukemia

Molecular diagnosis of lymphoblastic leukemia

The translocation t(2;11)(p21;q23) without MLL gene rearrangement—a possible marker of good prognosis in myelodysplastic syndrome patients

Implication of microRNAs in the Pathogenesis of MDS

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