The t(6;9)(p22;q34) in myeloid neoplasms: a retrospective study of 16 cases

Gupta, Monika; Kumar, Jeevan; Sitaram, Usha; Neeraj, S.; Nancy, A.; Balasubramanian, Poonkuzhali; Abraham, Aby; Viswabandya, Auro; George, Biju; Chandy, Mammen; Srivastava, Alok; Srivastava, Vivi M.

doi:10.1016/j.cancergencyto.2010.08.012

Cited by 26 publications

(20 citation statements)

References 17 publications

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“…Nevertheless, the suggestion that allogeneic HSCT appears to overcome the adverse survival impact of t(6;9)(p23;q34) is supported by other studies. 12,13 In a EBMT study of AML patients with t(6;9)(p23;q34), allogeneic HSCT produced responses that were independent of t(6;9)(p23;q34), and the 3-year OS of patients with t(6;9)(p23;q34) was as high as 51±7%, comparable to AML patients with the normal karyotype. 13 Also, the incidence of relapse following allogeneic HSCT appeared to be similar in patients with t(6;9)(p23;q34) compared with those without Abbreviations: CR, complete remission; HLA, human leukocyte antigen; HSCT, hematopoietic stem cell transplantation; TBI, total body irradiation.…”

Section: Discussionmentioning

confidence: 99%

Allogeneic hematopoietic stem cell transplantation for acute myeloid leukemia with t(6;9)(p23;q34) dramatically improves the patient prognosis: a matched-pair analysis

et al. 2011

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Acute myeloid leukemia (AML) with t(6;9)(p23;q34) is well known to have a poor prognosis treated with chemotherapy and autotransplantation. The presence of this karyotype is an indicator for allogeneic hematopoietic stem cell transplantation (HSCT); however, the impact of t(6;9)(p23;q34) on the HSCT outcome remains unclear. We conducted a matchedpair analysis of de novo AML patients with and without t(6;9)(p23;q34) using data obtained from the Japanese HSCT data registry. A total of 57 patients with t(6;9)(p23;q34) received transplants between 1996 and 2007, and 171 of 2056 normal karyotype patients matched for age, disease status at HSCT and graft source were selected. The overall survival, disease-free survival, cumulative incidence of relapse and the non-relapse mortality in t(6;9)(p23;q34) patients were comparable to those for normal karyotype patients. A univariate analysis showed that t(6;9)(p23;q34) had no significant impact on the overall survival. These findings suggest that allogeneic HSCT may overcome the unfavorable impact of t(6;9)(p23;q34) as an independent prognostic factor.

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Section: Discussionmentioning

confidence: 99%

Allogeneic hematopoietic stem cell transplantation for acute myeloid leukemia with t(6;9)(p23;q34) dramatically improves the patient prognosis: a matched-pair analysis

et al. 2011

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“…4 However, our current knowledge of t(6;9)(p22;q34) in AML is drawn from relatively small series of patients, predominantly adults, associating t(6;9) with young age at onset and a poor outcome. 1,[5][6][7] Typically, the t(6;9) presents as de novo AML, morphologically associated with FrenchAmerican-British (FAB) type M2, bone marrow basophilia, Auer rods, and dysplasia. 1,5,7,8 The translocation is primarily the sole cytogenetic abnormality (80%); among the 20% of ©2014 Ferrata Storti Foundation.…”

Section: Introductionmentioning

confidence: 99%

“…1,8,10,11 The clinical outcome is poor, with 5-year overall survival rates of 28% reported in children and 9% in adults. 1,[5][6][7] Recent smaller studies, including both adult and pediatric patients, have shown that treatment with early allogeneic hematopoietic stem cell transplantation (HSCT) in first complete remission may improve the outcome. 1,12,13 The t(6;9) results in a fusion of the 5' part of the DEK gene at 6p22.3 and the 3' part of the NUP214 gene, formerly known as CAN, located at 9q34, forming the chimeric DEK-NUP214 gene.…”

Section: Introductionmentioning

confidence: 99%

t(6;9)(p22;q34)/DEK-NUP214-rearranged pediatric myeloid leukemia: an international study of 62 patients

et al. 2014

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IntroductionThe t(6;9)(p22;q34), frequently reported with a breakpoint in 6p23 but now known to involve the DEK gene mapping to 6p22.3, is a rare translocation, estimated to occur in 1-2% of cases of childhood acute myeloid leukemia (AML). 1 The translocation was first identified in 1976, and the first pediatric patient was described in 1982.2,3 The World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia from 2008 listed the t(6;9)(p22;q34) as a distinct entity. 4 However, our current knowledge of t(6;9)(p22;q34) in AML is drawn from relatively small series of patients, predominantly adults, associating t(6;9) with young age at onset and a poor outcome. 1,[5][6][7] Typically, the t(6;9) presents as de novo AML, morphologically associated with FrenchAmerican-British (FAB) type M2, bone marrow basophilia, Auer rods, and dysplasia. 1,5,7,8 The translocation is primarily the sole cytogenetic abnormality (80%); among the 20% of ©2014 Ferrata Storti Foundation. This is an open-access paper. doi:10.3324/haematol.2013 The online version of this article has a Supplementary Appendix. Manuscript received on September 24, 2013. Manuscript accepted on January 13, 2014 Acute myeloid leukemia with t(6;9)(p22;q34) is listed as a distinct entity in the 2008 World Health Organization classification, but little is known about the clinical implications of t(6;9)-positive myeloid leukemia in children. This international multicenter study presents the clinical and genetic characteristics of 62 pediatric patients with t(6;9)/DEK-NUP214-rearranged myeloid leukemia; 54 diagnosed as having acute myeloid leukemia, representing <1% of all childhood acute myeloid leukemia, and eight as having myelodysplastic syndrome. The t(6;9)/DEK-NUP214 was associated with relatively late onset (median age 10.4 years), male predominance (sex ratio 1.7), French-AmericanBritish M2 classification (54%), myelodysplasia (100%), and FLT3-ITD (42%). Outcome was substantially better than previously reported with a 5-year event-free survival of 32%, 5-year overall survival of 53%, and a 5-year cumulative incidence of relapse of 57%. Hematopoietic stem cell transplantation in first complete remission improved the 5-year event-free survival compared with chemotherapy alone (68% versus 18%; P<0.01) but not the overall survival (68% versus 54%; P=0.48). The presence of FLT3-ITD had a non-significant negative effect on 5-year overall survival compared with non-mutated cases (22% versus 62%; P=0.13). Gene expression profiling showed a unique signature characterized by significantly higher expression of EYA3, SESN1, PRDM2/RIZ, and HIST2H4 genes. In conclusion, t(6;9)/DEK-NUP214 represents a unique subtype of acute myeloid leukemia with a high risk of relapse, high frequency of FLT3-ITD, and a specific gene expression signature. t(6;9)(p22;q34)/DEK-NUP214-rearranged pediatric myeloid leukemia: an international study of 62 patients

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“…This leukemia is characterized by a poor prognosis, affects young adults, and is classified mostly as M2 or M4 and rarely as Ml (according to the French-American-British classification of AML) [3]. In adult AML, translocations with a poor prognosis are more rare; these include t(6;9)(p23;q34), with one fusion transcript between DEK and NUP214 (CAN) genes, which occur in 1% of adult AML patients [1].…”

Section: Introductionmentioning

confidence: 99%

“…Karyotype results were confirmed with Whole Chromosome Paint (WCP) FISH probes and LSI AML-ETO Dual colour Dual fusion (DCDF) fusion probe. There is limited literature on t(6;9) and only a few cases of such translocations from Asian countries with only 1 case form India are reported [3].…”

Section: Introductionmentioning

confidence: 99%

Sole Translocation (6;9)(p23;q34) in AML-ETO Negative AML-M2 Patient

Trivedi¹,

Patel²,

Varma³

et al. 2017

J Down Syndr Chr Abnorm

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Acute myeloid leukemia (AML) is a heterogeneous group of disorders with regards to its pathology and molecular genetics features. Translocation (6;9)(p23;q34) is a cytogenetic aberration that can be found in specific subtypes of both AML and myelodysplastic syndrome. This translocation is associated with an unfavorable prognosis. The t(6;9) is found in myeloproliferative disorders with typical clinical characteristics. This translocation results in highly consistent abnormalities at the molecular level. Here, we describe a case of sole translocation (6;9)(p23;q34) in AML-ETO negative AML-M2 patient with conventional cytogenetic and Fluorescence In Situ Hybridization (FISH) study results.

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The t(6;9)(p22;q34) in myeloid neoplasms: a retrospective study of 16 cases

Cited by 26 publications

References 17 publications

Allogeneic hematopoietic stem cell transplantation for acute myeloid leukemia with t(6;9)(p23;q34) dramatically improves the patient prognosis: a matched-pair analysis

Allogeneic hematopoietic stem cell transplantation for acute myeloid leukemia with t(6;9)(p23;q34) dramatically improves the patient prognosis: a matched-pair analysis

t(6;9)(p22;q34)/DEK-NUP214-rearranged pediatric myeloid leukemia: an international study of 62 patients

Sole Translocation (6;9)(p23;q34) in AML-ETO Negative AML-M2 Patient

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