The translocation (4;12)(q31;q21) in myelofibrosis associated with myelodysplastic syndrome: impact of the 12q21 breakpoint

Nunoda, Kousuke; Sashida, Goro; Ohyashiki, Kazuma; Kodama, Atsushi; Fukutake, Katsuyuki

doi:10.1016/j.cancergencyto.2005.06.014

Cited by 3 publications

(4 citation statements)

References 13 publications

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“…[4][5][6] Our findings indicate that lenalidomide has therapeutic potential in patients with secondary MDS with complex karyotype accompanied by chromosome 5q deletion.…”

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confidence: 60%

“…Another patient (JAK2_0021) reported as showing t(4;12)(q31;q21) had a prior history of myelodysplastic syndrome (MDS)-refractory anemia with a normal karyotype 6 years before myelofibrosis. 5 Re-assessment by the spectral karyotypic analysis revealed that this anomaly was t(4;12)(q27;q15) (Supplementary Figure 1). In contrast to the results of CIMF, no patients with myelofibrosis developing from PV/ET had 12q15 anomaly.…”

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confidence: 99%

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Recurrent chromosomal aberration at 12q15 in chronic idiopathic myelofibrosis with or without JAK2V617F mutation

et al. 2007

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achieved morphologic and cytogenetic remission after 2 months of treatment with lenalidomide therapy and a second patient who achieved a platelet response after only 1 month of therapy before receiving an unrelated allogeneic stem cell transplant. Both patients remain without any evidence of relapse with a maximum follow-up of 8 months.Both radiation therapy and traditional DNA-interactive antineoplastics, such as alkylating agents and topoisomerase II inhibitors, are known genotoxins with the potential to induce MDS or acute myeloid leukemia (AML) that commonly harbors a chromosome 5q deletion with high frequency of evolution to AML and short overall survival. [4][5][6] Our findings indicate that lenalidomide has therapeutic potential in patients with secondary MDS with complex karyotype accompanied by chromosome 5q deletion.

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“…[4][5][6] Our findings indicate that lenalidomide has therapeutic potential in patients with secondary MDS with complex karyotype accompanied by chromosome 5q deletion.…”

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confidence: 60%

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confidence: 99%

Recurrent chromosomal aberration at 12q15 in chronic idiopathic myelofibrosis with or without JAK2V617F mutation

et al. 2007

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“…12q rearrangements were reported to be the most common translocation-type karyotypic abnormalities in CIMF, but no single specific translocation partner was identified. 7,8) To our knowledge, balanced translocations involving 12q in myelofibrosis have been reported in 17 patients, including the present case (Table 1). It is of note that translocation-type abnormalities in myelofibrosis showed clustering breakpoints on chromosome 12q: 12q21 in 6/17 cases, 12q23 in 2/17 cases, 12q24 in 6/17 cases and 12q12～q13 in 2/17 cases, which suggest that two different "hot-spots" on 12q21 and 12q24 may be related to the etiology of myelofibrosis.…”

Section: Discussionmentioning

confidence: 92%

“…Balanced translocations in myelofibrosis are very rare events, though several isolated case reports have been published. [6][7][8][9][10][11][12][13][14] Nevertheless, these limited reports suggest that the involvement of chromosome 12 might be of pathogenetic relevance, and this conclusion was recently strengthened by a study that documented structural abnormalities in the long arm of chromosome 12 (12q) in seven of 205 cases of CIMF. 7) Furthermore, chromosome 12 seems to be commonly implicated in structural balanced translocation, whereas deletion and inversion are less common.…”

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confidence: 96%

A Novel Jumping Translocation of 12q21 in a Patient with Chronic Idiopathic Myelofibrosis

Cho

Hyun

2006

Korean J Hematol

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Jumping translocation (JT) has been defined as the translocation involving one donor chromosome and multiple recipient chromosomes in different cell lines in the same patient. This is rarely observed in various hematologic malignancies. Chronic idiopathic myelofibrosis (CIMF) is considered to be a clonal hematopoietic stem cell disorder, and clonal cytogenetic abnormalities have been reported to occur in about 30∼60% of patients. We report here on a case of CIMF with JT involving 12q21; t(5;12)(q13;q21) and t(12;12)(p13;q21) as the sole aberration. A pathogenetic relation between CIMF and the 12q rearrangement has been suggested in the literature, but neither the JT in CIMF nor the JT of 12q21 has been reported on. This is the first report of JT involving 12q21 in a patient with CIMF (ED note: nice writing).

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Translocation t(3;12)(q26;q21) In Jak2^V617F Point Mutation Negative Chronic Idiopathic Myelofibrosis: A Case Report

Mešanović

Šahović

Perić

2014

Balkan Journal of Medical Genetics

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The myeloproliferative diseases (MPDs) or myelo-proliferative neoplasms (MPNs) are a group of diseases of the bone marrow in which excess cells are produced. Chronic idiopathic myelofibrosis (CIMF) is a stem cell defect characterized by splenomegaly with multiorgan extramedullary hematopoiesis, immature peripheral blood granulocytes and erythrocytes and progressive bone marrow fibrosis. The most common chromosomal abnormalities seen in CIMF patients include numerical changes of chromosomes 7, 8 and 9, and structural changes of 1q, 5q, 13q and 20q. At least 75.0% of patients with bone marrow abnormalities have one or more of these chromosomal anomalies. Detection of the Janus kinase 2 (JAK2) mutation may be a potential major breakthrough for understanding the pathobiology of MPNs, and is an essential part of the diagnostic algorithm. In this study, we describe a JAK2V617F mutation negative CIMF patient who has the chromosomal translocation t(3;12)(q26;q21) in her karyotype.

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The translocation (4;12)(q31;q21) in myelofibrosis associated with myelodysplastic syndrome: impact of the 12q21 breakpoint

Cited by 3 publications

References 13 publications

Recurrent chromosomal aberration at 12q15 in chronic idiopathic myelofibrosis with or without JAK2V617F mutation

Recurrent chromosomal aberration at 12q15 in chronic idiopathic myelofibrosis with or without JAK2V617F mutation

A Novel Jumping Translocation of 12q21 in a Patient with Chronic Idiopathic Myelofibrosis

Translocation t(3;12)(q26;q21) In Jak2^V617F Point Mutation Negative Chronic Idiopathic Myelofibrosis: A Case Report

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The translocation (4;12)(q31;q21) in myelofibrosis associated with myelodysplastic syndrome: impact of the 12q21 breakpoint

Cited by 3 publications

References 13 publications

Recurrent chromosomal aberration at 12q15 in chronic idiopathic myelofibrosis with or without JAK2V617F mutation

Recurrent chromosomal aberration at 12q15 in chronic idiopathic myelofibrosis with or without JAK2V617F mutation

A Novel Jumping Translocation of 12q21 in a Patient with Chronic Idiopathic Myelofibrosis

Translocation t(3;12)(q26;q21) In Jak2V617F Point Mutation Negative Chronic Idiopathic Myelofibrosis: A Case Report

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Translocation t(3;12)(q26;q21) In Jak2^V617F Point Mutation Negative Chronic Idiopathic Myelofibrosis: A Case Report