AML1 mutation and its coexistence with different transcription factor gene families in de novo acute myeloid leukemia: redundancy or synergism

Auewarakul, Chirayu; Leecharendkeat, Amporn; Tocharoentanaphol, Chintana; Promsuwicha, Orathai; Sritana, Narongrit; Thongnoppakhun, Wanna

doi:10.3324/haematol.10914

Cited by 12 publications

(7 citation statements)

References 8 publications

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“…It is of note that this scenario further confirms our FISH data revealing the t(1;21)(p36; q22) as a rare subclone. Conversely, the co-occurrence of RUNX1/ AML1 mutation and RUNX1/AML1-ETO fusion has recently been reported by Auewarakul et al 30 in one AML patient, revealing a new mechanism for biallelic RUNX1 alterations.…”

Section: Discussionmentioning

confidence: 79%

RUNX1 DNA-binding mutations and RUNX1-PRDM16 cryptic fusions in BCR-ABL+ leukemias are frequently associated with secondary trisomy 21 and may contribute to clonal evolution and imatinib resistance

Roche‐Lestienne

Deluche²,

Corm

et al. 2008

Blood

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Section: Discussionmentioning

confidence: 79%

RUNX1 DNA-binding mutations and RUNX1-PRDM16 cryptic fusions in BCR-ABL+ leukemias are frequently associated with secondary trisomy 21 and may contribute to clonal evolution and imatinib resistance

Roche‐Lestienne

Deluche²,

Corm

et al. 2008

Blood

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“…In a previous report, RUNX1 mutation occurred in 1 out of 3 AML patients with t(16;21). They emphasized that RUNX1 mutation occurred frequently in Southeast Asian AML patients with t(16;21) [24]. However, the clinical features, prognosis, and the function of the RUNX1 mutation were not reported.…”

Section: Discussionmentioning

confidence: 94%

“…RUNX1 mutations were identified in 6.3-13.2% of AML patients with chromosomal translocations involving CBF, PML-RARA, HOX, or ETS transcription factor gene families [22][23][24]. AML with t(16;21) was identified in this series and was of interest.…”

Section: Discussionmentioning

confidence: 95%

CD56 antigen expression and hemophagocytosis of leukemic cells in acute myeloid leukemia with t(16;21)(p11;q22)

et al. 2010

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The translocation t(16;21)(p11;q22) is rare, occurs with an incidence of 1%, in acute myeloid leukemia (AML), forming TLS/FUS-ERG fusion transcript, and it is known to cause the hemophagocytosis and vacuolation of leukemic cells. As previously reported cases numbered less than 60, we aimed to identify the clinical and genetic aspects of AML with t(16;21). Among 1,277 patients diagnosed with de novo and secondary AML, 12 AML patients with t(16;21) were retrospectively evaluated (0.94%, 12/1,277). AML with t(16;21) expressed CD56 with a median value of 45% (7.8-87%), and the rate of hemophagocytosis plus vacuolation of leukemic cells was 2.9% (2.0-9.0%). CD56 antigen expression showed a correlation with the total rate of hemophagocytosis plus vacuolation, with a correlation coefficient of 0.663 (P = 0.019). AML with t(16;21) expressed CD13, CD33, CD34, CD117, CD56, HLA-DR, and cytoplasmic myeloperoxidase. RUNX1, which regulates a gene for hematopoiesis, is frequently mutated in AML and, in this study, one out of three patients showed the mutation R174Q in RUNX1. All of these 3 patients showed the fusion transcript TLS/FUS-ERG, which was detected by multiplex or nested PCR. AML with t(16;21) showed a very low rate of complete remission after induction chemotherapy (8.3%), and high relapse (75%) and mortality (75%) rates. AML with t(16;21) exhibited a distinct morphology with frequent CD56 expression and a poor prognosis.

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“…[3][4][5] The second group affects genes that are involved in hematopoietic cell differentiation such as CEBPA and AML1 while the last group interferes with genes that are implicated in the cell cycle control or programmed cell death such as NPM1 and P53. [3][4][5][6][7][8] CEBPA belongs to a family of leucine zipper transcription factors necessary for late differentiation events of several cell types. 9 CEBPA consists of 2 N-terminal transactivation domains (TAD1 and TAD2), a C-terminal DNA binding basic domain and a leucine-rich dimerization region or basic leucine zipper (bZIP) domain.…”

mentioning

confidence: 99%

CCAAT/enhancer binding protein‐alpha polymorphisms occur more frequently than mutations in acute myeloid leukemia and exist across all cytogenetic risk groups and leukemia subtypes

Leecharendkeat

Tocharoentanaphol

Auewarakul

2008

Intl Journal of Cancer

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CCAAT/enhancer binding protein-alpha (CEBPA) belongs to a family of leucine zipper transcription factors necessary for late differentiation events of many cell types. CEBPA gene has recently been recognized as the target of genetic alterations in acute myeloid leukemia (AML). CEBPA mutations and polymorphisms were determined in a large series of Southeast Asian AML (n = 247) using polymerase chain reaction and direct sequencing. Chromosome and FLT3 mutation analyses were also undertaken. Thirtytwo distinct types of nucleotide changes (7 known and 25 novel mutations) were identified in 34 cases (13.8%). Three types of polymorphisms were found in 60 cases (24.3%) including a novel nt1401C>T polymorphism. All polymorphisms were located at the C-terminal region whereas the majority of mutations (62.5%) occurred at the N-terminal region. The most common polymorphism was the nt1175_1180dup resulting in the predicted P194_H195 duplication protein in 50 cases. Although CEBPA mutations were predominantly associated with a normal karyotype (76%), 15.7% of patients with an unfavorable risk and 4.3% of patients with a favorable risk also had the mutations. Moreover, CEBPA polymorphisms were similarly found across all cytogenetic risk groups and occurred in all leukemia subtypes. FLT3 mutations were comparably discovered among patients with CEBPA mutations, polymorphisms and wild-type (26-30%). In conclusion, CEBPA polymorphisms occurred more frequently than CEBPA mutations and could be identified across all prognostic risk groups. The high occurrence of CEBPA polymorphisms should be recognized in order not to include this group of patients with CEBPA polymorphisms for prognostic evaluation of CEBPA mutations in any clinical trials.

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AML1 mutation and its coexistence with different transcription factor gene families in de novo acute myeloid leukemia: redundancy or synergism

Cited by 12 publications

References 8 publications

RUNX1 DNA-binding mutations and RUNX1-PRDM16 cryptic fusions in BCR-ABL+ leukemias are frequently associated with secondary trisomy 21 and may contribute to clonal evolution and imatinib resistance

RUNX1 DNA-binding mutations and RUNX1-PRDM16 cryptic fusions in BCR-ABL+ leukemias are frequently associated with secondary trisomy 21 and may contribute to clonal evolution and imatinib resistance

CD56 antigen expression and hemophagocytosis of leukemic cells in acute myeloid leukemia with t(16;21)(p11;q22)

CCAAT/enhancer binding protein‐alpha polymorphisms occur more frequently than mutations in acute myeloid leukemia and exist across all cytogenetic risk groups and leukemia subtypes

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