Germline CEBPA mutation in familial acute myeloid leukemia
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 bial...
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| Format: | Article |
| Language: | English |
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MDPI AG
2021-10-01
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| Series: | Hematology Reports |
| Subjects: | |
| Online Access: | https://www.pagepress.org/journals/index.php/hr/article/view/9114 |
| _version_ | 1797936677559205888 |
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| author | Matilde Boada Ana Inés Catalan Carolin Ottati Florencia Bentancour Daniela Lens Cecilia Guillermo Sofia Grille |
| author_facet | Matilde Boada Ana Inés Catalan Carolin Ottati Florencia Bentancour Daniela Lens Cecilia Guillermo Sofia Grille |
| author_sort | Matilde Boada |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-10T18:34:06Z |
| format | Article |
| id | doaj.art-5a15b7fdb7e048eab1df410d299d93f8 |
| institution | Directory Open Access Journal |
| issn | 2038-8322 2038-8330 |
| language | English |
| last_indexed | 2024-04-10T18:34:06Z |
| publishDate | 2021-10-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Hematology Reports |
| spelling | doaj.art-5a15b7fdb7e048eab1df410d299d93f82023-02-02T02:20:28ZengMDPI AGHematology Reports2038-83222038-83302021-10-0113310.4081/hr.2021.9114Germline CEBPA mutation in familial acute myeloid leukemiaMatilde Boada0Ana Inés Catalan1Carolin Ottati2Florencia Bentancour3Daniela Lens4Cecilia Guillermo5Sofia Grille6Hematology Department, Hospital de Clínicas Dr. Manuel Quinela, MontevideoBasic Medicine Department, Hospital de Clínicas Dr. Manuel Quinela, MontevideoBasic Medicine Department, Hospital de Clínicas Dr. Manuel Quinela, MontevideoHematology Department, Hospital de Clínicas Dr. Manuel Quinela, MontevideoBasic Medicine Department, Hospital de Clínicas Dr. Manuel Quinela, MontevideoHematology Department, Hospital de Clínicas Dr. Manuel Quinela, MontevideoHematology Department, and Basic Medicine Department, Hospital de Clínicas Dr. Manuel Quinela, MontevideoMyeloid 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.https://www.pagepress.org/journals/index.php/hr/article/view/9114Familial leukemiaCEBPAgermline predispositionacute myeloid leukemia |
| spellingShingle | Matilde Boada Ana Inés Catalan Carolin Ottati Florencia Bentancour Daniela Lens Cecilia Guillermo Sofia Grille Germline CEBPA mutation in familial acute myeloid leukemia Hematology Reports Familial leukemia CEBPA germline predisposition acute myeloid leukemia |
| title | Germline CEBPA mutation in familial acute myeloid leukemia |
| title_full | Germline CEBPA mutation in familial acute myeloid leukemia |
| title_fullStr | Germline CEBPA mutation in familial acute myeloid leukemia |
| title_full_unstemmed | Germline CEBPA mutation in familial acute myeloid leukemia |
| title_short | Germline CEBPA mutation in familial acute myeloid leukemia |
| title_sort | germline cebpa mutation in familial acute myeloid leukemia |
| topic | Familial leukemia CEBPA germline predisposition acute myeloid leukemia |
| url | https://www.pagepress.org/journals/index.php/hr/article/view/9114 |
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