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Leukemia & Lymphoma Volume 61, 2020 - Issue 12
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Letters to the Editor

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

Daniela P. Mendes-de-Almeidaa Department of Hematology, Instituto Nacional de Infectologia Evandro Chagas, Fundação Oswaldo Cruz (FIOCRUZ), Rio de Janeiro, Brazil;b Pediatric Hematology-Oncology Program, Research Center, Instituto Nacional de Câncer (INCA), Rio de Janeiro, Brazil;c Division of Cancer Epidemiology and Clinical Research, Department of Pediatrics, University of Minnesota, Minneapolis, MN, USAORCID Iconhttps://orcid.org/0000-0002-1936-4774View further author information
ORCID Icon,
Fernando Sellosd Department of Hematology, Hospital Estadual da Criança, Rio de Janeiro, BrazilView further author information
,
Patrícia G. Mourad Department of Hematology, Hospital Estadual da Criança, Rio de Janeiro, BrazilView further author information
,
Filipe V. dos Santos-Buenob Pediatric Hematology-Oncology Program, Research Center, Instituto Nacional de Câncer (INCA), Rio de Janeiro, BrazilORCID Iconhttps://orcid.org/0000-0002-3227-0895View further author information
ORCID Icon,
Francianne G. Andradeb Pediatric Hematology-Oncology Program, Research Center, Instituto Nacional de Câncer (INCA), Rio de Janeiro, BrazilORCID Iconhttps://orcid.org/0000-0003-2547-2533View further author information
ORCID Icon,
Sheila C. Soares-Limae Division of Molecular Carcinogenesis, Research Center, Instituto Nacional de Câncer (INCA), Rio de Janeiro, BrazilORCID Iconhttps://orcid.org/0000-0002-6742-3708View further author information
ORCID Icon &
Maria S. Pombo-de-Oliveirab Pediatric Hematology-Oncology Program, Research Center, Instituto Nacional de Câncer (INCA), Rio de Janeiro, BrazilCorrespondence[email protected]
ORCID Iconhttps://orcid.org/0000-0002-1507-004XView further author information
ORCID Icon show all
Pages 3010-3013 | Received 28 Apr 2020, Accepted 04 Jul 2020, Published online: 27 Jul 2020

References

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  • Cavalcante de Andrade Silva M, Katsumura KR, Mehta C, et al. Breaking the spatial constraint between neighboring zinc fingers: a new germline mutation in GATA2 deficiency syndrome. Leukemia [Internet]. 2020; [cited 2020 Apr 20]; Available from: http://www.nature.com/articles/s41375-020-0820-2.
  • Katsumura KR, Mehta C, Hewitt KJ, et al. Human leukemia mutations corrupt but do not abrogate GATA-2 function. Proc Natl Acad Sci USA. 2018;115(43):E10109–E10118.
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  • Kurosaki T, Maquat LE. Nonsense-mediated mRNA decay in humans at a glance. J Cell Sci. 2016;129(3):461–467.
  • Liu X, Jiang B, Wang A, et al. GATA2 rs2335052 polymorphism predicts the survival of patients with colorectal cancer. Plos One. 2015;10(8):e0136020.
  • Haddox CL, Carr RM, Abraham RS, et al. Phenotypic heterogeneity associated with germline GATA2 haploinsufficiency: a comprehensive kindred study. Leuk Lymphoma. 2019;60(13):3282–3286.

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