2012
DOI: 10.1182/blood-2012-01-403220
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GATA2 zinc finger 1 mutations associated with biallelic CEBPA mutations define a unique genetic entity of acute myeloid leukemia

Abstract: IntroductionIn 2008, the World Health Organization classification of Tumors of the Hematopoietic and Lymphoid Tissues included "AML with mutated CEBPA" as a provisional favorable prognostic entity, and a routine CEBPA mutation screening was recommended for all acute myeloid leukemia (AML) patients with no detectable chromosomal abnormalities. 1,2 However, only patients with mutations in both CEBPA alleles (biCEBPA-mutated AML) have a prognostically favorable outcome. [3][4][5][6][7] The biCEBPA patients typica… Show more

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Cited by 138 publications
(169 citation statements)
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References 51 publications
(71 reference statements)
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“…Seventeen novel mutations were reported in the present study, remaining nine mutations were already reported in previous studies (Pabst et al, 2001;Leecharendkeat et al, 2008;Wouters et al, 2009;Szankasi et al, 2011;Ahmaed et al, 2012;Dufour et al, 2012;Greif et al, 2012;Kim et al, 2012). The 29% of the mutations constitute frames shift mutations generating a truncated protein, the remaining includes the missense mutations and aminoacid insertions.…”
Section: Discussionsupporting
confidence: 63%
“…Seventeen novel mutations were reported in the present study, remaining nine mutations were already reported in previous studies (Pabst et al, 2001;Leecharendkeat et al, 2008;Wouters et al, 2009;Szankasi et al, 2011;Ahmaed et al, 2012;Dufour et al, 2012;Greif et al, 2012;Kim et al, 2012). The 29% of the mutations constitute frames shift mutations generating a truncated protein, the remaining includes the missense mutations and aminoacid insertions.…”
Section: Discussionsupporting
confidence: 63%
“…We confirmed that GATA2 mutations were significantly associated with CEBPA dm cases (29%, 4 of 41 sm vs. 25 of 87 dm: Fisher's exact test P 5 0.022). In contrast to previous reports [5,8], we have detected GATA2 mutations in CEBPA sm cases at a small frequency of 4% as has Green et al [9] (Table 2).…”
contrasting
confidence: 99%
“…However, we confirmed no prognostic impact of GATA2 mutations (n 5 25) compared to wild-type (n 5 62) in our cohort of CEBPA dm AML [8,9] (22 vs. 58 and 10 vs. 16) with a trend similar of better outcome in CEBPA dm with GATA2 mutations compared to wild-type [5,6] (18 vs. 62). Furthermore, our study provided first evidence that homozygous CEPBA mutations have a similar gene expression signature as CEPBA dm and thus may be considered as equivalent.…”
supporting
confidence: 44%
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