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Hematology Reports
Volume 13
Issue 3
10.4081/hr.2021.9114
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Hematology Reports is published by MDPI from Volume 14 Issue 1 (2022). Previous articles were published by another publisher in Open Access under a CC-BY (or CC-BY-NC-ND) licence, and they are hosted by MDPI on mdpi.com as a courtesy and upon agreement with PAGEPress.
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Case Report

Germline CEBPA Mutation in Familial Acute Myeloid Leukemia

by
Matilde Boada
1,
Ana Inés Catalan
2,
Carolin Ottati
2,
Florencia Bentancour
1,
Daniela Lens
2,
Cecilia Guillermo
1 and
Sofia Grille
1,2,*
1
Hematology Department, Hospital de Clínicas Dr. Manuel Quinela, Av. Italia SN, Montevideo 11600, Uruguay
2
Basic Medicine Department, Hospital de Clínicas Dr. Manuel Quinela, Montevideo 11600, Uruguay
*
Author to whom correspondence should be addressed.
Hematol. Rep. 2021, 13(3), 9114; https://doi.org/10.4081/hr.2021.9114
Submission received: 28 February 2021 / Revised: 21 July 2021 / Accepted: 17 September 2021 / Published: 4 October 2021

Abstract

Myeloid Neoplasms with germline predisposition become part of 2016 World Health Organization (WHO) classification of hematological malignancies since 2016. CCAAT/enhancer binding protein-alpha (CEBPA) is a myeloid transcription factor located in chromosome 19q. Acute myeloid leukemia (AML) with biallelic mutations of CEBPA AML with recurrent genetic abnormalities according to WHO classification. The inheritance of a germline CEBPA mutation predisposes to the development of AML with autosomal dominant inheritance. Familial CEBPA AML share characteristics with somatic CEBPA AML. However, a higher relapse incidence is reported. We present the case of a 46-years-old male with family history of acute leukemia who was diagnosed with single mutated CEBPA acute myeloid leukemia. The same mutation was found in two of his siblings. The clinical suspicion and proper diagnosis of familial cases is necessary, especially when a related allogenic transplant is indicated in order to select an adequate donor.
Keywords: familial leukemia; CEBPA; germline predisposition; acute myeloid leukemia familial leukemia; CEBPA; germline predisposition; acute myeloid leukemia

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MDPI and ACS Style

Boada, M.; Catalan, A.I.; Ottati, C.; Bentancour, F.; Lens, D.; Guillermo, C.; Grille, S. Germline CEBPA Mutation in Familial Acute Myeloid Leukemia. Hematol. Rep. 2021, 13, 9114. https://doi.org/10.4081/hr.2021.9114

AMA Style

Boada M, Catalan AI, Ottati C, Bentancour F, Lens D, Guillermo C, Grille S. Germline CEBPA Mutation in Familial Acute Myeloid Leukemia. Hematology Reports. 2021; 13(3):9114. https://doi.org/10.4081/hr.2021.9114

Chicago/Turabian Style

Boada, Matilde, Ana Inés Catalan, Carolin Ottati, Florencia Bentancour, Daniela Lens, Cecilia Guillermo, and Sofia Grille. 2021. "Germline CEBPA Mutation in Familial Acute Myeloid Leukemia" Hematology Reports 13, no. 3: 9114. https://doi.org/10.4081/hr.2021.9114

APA Style

Boada, M., Catalan, A. I., Ottati, C., Bentancour, F., Lens, D., Guillermo, C., & Grille, S. (2021). Germline CEBPA Mutation in Familial Acute Myeloid Leukemia. Hematology Reports, 13(3), 9114. https://doi.org/10.4081/hr.2021.9114

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