Acute myeloid leukemia with t(4;12)(q12;p13): report of 2 cases

Kim, Kyung‐Hee; Kim, Moon Jin; Ahn, Jeong Yeal; Park, Pil-Whan; Seo, Yiel-Hea; Jeong, Ji-Hun

doi:10.5045/br.2016.51.2.133

Cited by 6 publications

(9 citation statements)

References 14 publications

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“…Some of the earlier studies of AML with t(4;12) have reported the difficulties of using only standard chemotherapy regimens in treating these patients [ 4 , 12 , 13 , 15 ]. Others have suggested that these patients may respond to intensive chemotherapy regimens or hematopoietic stem cell transplantation [ 2 , 13 , 16 ]. Our data also suggest that the t(4;12), either as a sole abnormality or as part of a complex karyotype, portends a poor outcome.…”

Section: Discussionmentioning

confidence: 99%

Acute myeloid leukemia with t(4;12)(q12;p13): an aggressive disease with frequent involvement of PDGFRA and ETV6

Abruzzo

et al. 2017

Oncotarget

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We describe the clinical, morphologic, immunophenotypic and molecular genetic features of 15 cases of acute myeloid leukemia (AML) with t(4;12)(q12;p13). There were 9 men and 6 women, with a median age of 50 years (range, 17–76). Most patients had hypercellular bone marrow with a median blast count of 58% and multilineage dysplasia. Flow cytometry analysis showed myeloid lineage with blasts positive for CD13, CD33, CD34, CD38, CD117 and HLA-DR. Interestingly, aberrant CD7 expression was detected in 12/14 cases, and myeloperoxidase was either negative (3/15) or positive in only a small subset of the blasts (12/15). t(4;12)(q12;p13) was detected at time of initial diagnosis in 4 and at relapse or progression in 9 patients. The initial karyotype was unknown in 2 cases. FISH analysis showed PDGFRA-ETV6 rearrangement in all 7 cases assessed. FLT3 ITD was detected in 2/11 cases and IDH2 and JAK2 mutation were each detected in 1/2 cases assessed. There were no mutations of KRAS (0/8), NRAS (0/8), CEBPA (0/3), KIT (0/3), NPM1 (0/3) or IDH1 (0/2). All patients received aggressive multiagent chemotherapy; 7 patients additionally received stem cell transplantation. With a median follow-up of 10 months (range, 6–51), 13 patients died of AML, 1 patient had persistent disease, and 1 patient was lost to follow-up. In summary, AML with t(4;12)(q12;p13) is usually associated with myelodysplasia, aberrant CD7 expression, weak of absent myeloperoxidase expression, frequent PDGFRA-ETV6 fusion, and an aggressive clinical course. The molecular findings suggest that there may be a role for tyrosine kinase inhibitors in patient management.

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Section: Discussionmentioning

confidence: 99%

Acute myeloid leukemia with t(4;12)(q12;p13): an aggressive disease with frequent involvement of PDGFRA and ETV6

Abruzzo

et al. 2017

Oncotarget

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“…The first described case of a patient with t(4;12) AML was in 1989 [1] . Since this initial report, less than 30 cases of this type of AML have been described in literature [3] , [4] . In many of these cases, the CBC showed an increased absolute lymphocyte count and blasts in the peripheral blood were initially misinterpreted as lymphocytes or atypical lymphocytes, as was the case with our patient.…”

Section: Discussionmentioning

confidence: 99%

“…Finally, Kim et al, in 2016, described a fourth case of a 53-year-old male with newly diagnosed t(4;12) AML who underwent induction with idarubicin and cytarabine, followed by re-induction with high-dose cytarabine and daunorubicin. He achieved a complete remission and underwent a MUD SCT with a remission of at least 52 months [3] .…”

Section: Discussionmentioning

confidence: 99%

Acute myeloid leukemia with t(4;12)(q12;p13) treated with an allogeneic stem cell transplant: A case report and review of the literature

Hancock

Kanaloupitis

Sirota³

et al. 2018

Leukemia Research Reports

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“…There have been about forty reported cases in literature over the last 25 years through scattered case reports and small series. [14][15][16] These previous reports highlighted certain specific clinical and biological features and a likely unfavourable prognosis with a median survival of less than one year. [14][15][16] Main reported biological characteristics included the presence of trilineage dysplasia, and frequent CD7 expression along with low or absent myeloperoxidase (MPO) activity.…”

Section: Introductionmentioning

confidence: 99%

“…[14][15][16] These previous reports highlighted certain specific clinical and biological features and a likely unfavourable prognosis with a median survival of less than one year. [14][15][16] Main reported biological characteristics included the presence of trilineage dysplasia, and frequent CD7 expression along with low or absent myeloperoxidase (MPO) activity. 14,15 In contrast, limited data are available regarding molecular characteristics and possible cooperating mutations to t(4;12).…”

Section: Introductionmentioning

confidence: 99%

Myeloid malignancies with translocation t(4;12)(q11‐13;p13): molecular landscape, clonal hierarchy and clinical outcomes

Parinet

Chapiro

Bidet

et al. 2021

J Cellular Molecular Medi

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Acute myeloid leukemia with t(4;12)(q12;p13): report of 2 cases

Cited by 6 publications

References 14 publications

Acute myeloid leukemia with t(4;12)(q12;p13): an aggressive disease with frequent involvement of PDGFRA and ETV6

Acute myeloid leukemia with t(4;12)(q12;p13): an aggressive disease with frequent involvement of PDGFRA and ETV6

Acute myeloid leukemia with t(4;12)(q12;p13) treated with an allogeneic stem cell transplant: A case report and review of the literature

Myeloid malignancies with translocation t(4;12)(q11‐13;p13): molecular landscape, clonal hierarchy and clinical outcomes

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