Acute myeloid leukemia associated with a novel <i>GATA2</i> mutation: a case report and the importance to identify <i>GATA2</i> haplodeficiency

Mendes-de-Almeida, Daniela P.; Sellos, Fernando; Moura, Paulo; Santos-Bueno, Filipe V Dos; Andrade, Francianne Gomes; Soares-Lima, Sheila Coelho; Pombo‐de‐Oliveira, Maria S.

doi:10.1080/10428194.2020.1795163

Cited by 3 publications

(3 citation statements)

References 10 publications

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“…The most common somatic aberrations in ALLs were ETV6-RUNX1 (n = 3) and KMT2a-r (n = 3), while among AMLs, the aberrations were RUNX-RUNXT1 (n = 3) and PML-RARA (n = 2). Families #2.5 and #3.7 have been reported previously ( 17 , 18 ). Statistics were applied to explore the level of concordance (yes/no) of acute subtypes within the families; no significance was found ( p = 0.61).…”

Section: Resultsmentioning

confidence: 67%

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Identifying childhood leukemia with an excess of hematological malignancies in first-degree relatives in Brazil

et al. 2023

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BackgroundFamilial aggregation in childhood leukemia is associated with epidemiological and genomic factors. Albeit epidemiological studies on the familial history of hematological malignancies (FHHMs) are scarce, genome-wide studies have identified inherited gene variants associated with leukemia risk. We revisited a dataset of acute lymphoblastic leukemia (ALL) and acute myeloid leukemia (AML) patients to explore the familial aggregation of malignancies among their relatives.MethodsA series of 5,878 childhood leukemia (≤21 years of age) from the EMiLI study (2000–2019) were assessed. Lack of well-documented familial history of cancer (FHC) and 670 cases associated with genetic phenotypic syndromes were excluded. Leukemia subtypes were established according to World Health Organization recommendations. Logistic regression-derived odds ratios (ORs) and 95% confidence intervals (CIs) were performed and adjusted by age as a continuous variable, where ALL was the reference group for AML and conversely. The pedigree of 18 families with excess hematological malignancy was constructed.ResultsFHC was identified in 472 of 3,618 eligible cases (13%). Ninety-six of the 472 patients (20.3%) had an occurrence of FHHMs among relatives. Overall, FHC was significantly associated with AML (OR, 1.36; 95% CI, 1.01–1.82; p = 0.040). Regarding the first-degree relatives, the OR, 2.92 95% CI,1.57-5.42 and the adjOR, 1.16 (1.03-1.30; p0.001) were found for FHC and FHHM, respectively.ConclusionOur findings confirmed that AML subtypes presented a significant association with hematological malignancies in first-degree relatives. Genomic studies are needed to identify germline mutations that significantly increase the risk of developing myeloid malignancies in Brazil.

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Section: Resultsmentioning

confidence: 67%

“…In contrast, ARID5B rs10821936 is associated with an increased risk of AL with MLL-MLLT3 in both ALL and AML ( 32 ). Recently, we observed an increasing number of families with multiple MDS/AL and GATA2 mutations in germline cells ( 18 , 33 ).…”

Section: Discussionmentioning

confidence: 99%

Identifying childhood leukemia with an excess of hematological malignancies in first-degree relatives in Brazil

et al. 2023

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“…Furthermore, this variant has been previously associated with a worse prognosis in a colon cancer study 14 and described in an AML case report, along with a novel GATA2 pathogenic variant. 15 The other variants identified here, the NG_029334.1:g.16225C>T (rs11708606) and NG_029334.1:g.16201G>A (rs369850507), encompass intronic regions and have not been explored in vitro . Although these non-pathogenic variants are not likely to exert a high penetrance effect on the disease onset, they might be associated with infection and/or progression susceptibility.…”

Section: Discussionmentioning

confidence: 99%

GATA2 variants in patients with non-tuberculous mycobacterial or fungal infections without known immunodeficiencies

Mendes-de-Almeida

Andrade

Santos-Bueno

et al. 2023

Hematology, Transfusion and Cell Therapy

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Monogenic etiologies of persistent human papillomavirus infections: A comprehensive systematic review

Biglari,

Moghaddam,

Tabatabaiefar

et al. 2024

Genetics in Medicine

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Acute myeloid leukemia associated with a novel GATA2 mutation: a case report and the importance to identify GATA2 haplodeficiency

Cited by 3 publications

References 10 publications

Identifying childhood leukemia with an excess of hematological malignancies in first-degree relatives in Brazil

Identifying childhood leukemia with an excess of hematological malignancies in first-degree relatives in Brazil

GATA2 variants in patients with non-tuberculous mycobacterial or fungal infections without known immunodeficiencies

Monogenic etiologies of persistent human papillomavirus infections: A comprehensive systematic review

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