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

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Acknowledgments

The authors thank the patient and his relatives for consenting to the research and making samples available, Dr. Dayvison Freitas for the dermatological features description, and the Genetic Department of National Institute of Cancer for performing the sequencing test. We also thank the Instituto Nacional de Infectologia Evandro Chagas's director Dr. Valdiléia Veloso for the publication support.

Ethics approval and consent to participate

Informed consent was obtained from the case in accordance with the Declaration of Helsinki, and ethics was approved by the Ethics and Research Committee of Instituto Nacional de Infectologia Evandro Chagas (reference number CAAE #64574417.0.0000.5262).

Author contributions

F.S. and P.G.M. attended the patient, provided samples and clinical details; D.P.M.A. idealized the study, collected and analyzed clinical data; D.P.M.A., F.V.S.B., and F.G.A. performed the genetic tests; S.C.S.L. and M.S.P.O. supervised the research and reviewed the manuscript; M.S.P.O. provided funding. All authors contributed significantly to the work, have seen and approved the manuscript and its submission.

Disclosure statement

No potential conflict of interest was reported by the author(s).

Data availability statement

The clinical documentation is available to the corresponding author on a reasonable request.

Additional information

Funding

This study was financed in part by the Coordenação de Aperfeiçoamento de Pessoal de Nível Superior - Brasil (CAPES) - Finance Code 001; S.C.S.L is scholar of Fundação de Amparo a Pesquisa de Estado do Rio de Janeiro- FAPERJ [#E-26/202.918/2019] and M.S.P.O. is supported by Conselho Nacional de Desenvolvimento Científico e Tecnológico- CNPq [#310877/2019-9].