The different faces of GATA2 deficiency: implications for therapy and surveillance
GATA2 deficiency is one of the most common genetic predispositions to pediatric myelodysplastic syndrome (MDS) in children and adolescents. The wide spectrum of disease comprises, among others, hematological, immunological and pulmonary manifestations, as well as occasionally distinct organ anomalie...
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Frontiers Media S.A.
2024-06-01
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| Series: | Frontiers in Oncology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fonc.2024.1423856/full |
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| author | Luca Vinci Brigitte Strahm Carsten Speckmann Carsten Speckmann Miriam Erlacher Miriam Erlacher |
| author_facet | Luca Vinci Brigitte Strahm Carsten Speckmann Carsten Speckmann Miriam Erlacher Miriam Erlacher |
| author_sort | Luca Vinci |
| collection | DOAJ |
| description | GATA2 deficiency is one of the most common genetic predispositions to pediatric myelodysplastic syndrome (MDS) in children and adolescents. The wide spectrum of disease comprises, among others, hematological, immunological and pulmonary manifestations, as well as occasionally distinct organ anomalies. Due to the elevated risk of progression, nearly all individuals with GATA2-related MDS eventually undergo a hematopoietic stem cell transplantation (HSCT) at some point in their lives. Nevertheless, the optimal timing, method, and even the indication for HSCT in certain cases are still matter of debate and warrant further research. In this article, we report five patients with different hematological and immunological manifestations of GATA2 deficiency ranging from immunodeficiency and refractory cytopenia of childhood without chromosomal aberrations to relapsed MDS-related acute myeloid leukemia. We discuss the adopted strategies, including intensity of surveillance, indication and timing of HSCT, based on morphological, clinical and molecular markers, as well as individual patient needs. We conclude that a better characterization of the natural disease course, a better understanding of the prognostic significance of somatic aberrations and a thorough evaluation of patients´ perspectives and preferences are required to achieve a personalized approach aimed at improving the care of these patients. |
| format | Article |
| id | doaj-art-989d0f81d19d45e6b755c8488c796ff2 |
| institution | Kabale University |
| issn | 2234-943X |
| language | English |
| publishDate | 2024-06-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Oncology |
| spelling | doaj-art-989d0f81d19d45e6b755c8488c796ff22025-01-10T09:06:01ZengFrontiers Media S.A.Frontiers in Oncology2234-943X2024-06-011410.3389/fonc.2024.14238561423856The different faces of GATA2 deficiency: implications for therapy and surveillanceLuca Vinci0Brigitte Strahm1Carsten Speckmann2Carsten Speckmann3Miriam Erlacher4Miriam Erlacher5Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, GermanyDepartment of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, GermanyDepartment of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, GermanyInstitute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, GermanyDepartment of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, GermanyDepartment of Pediatrics and Adolescent Medicine, University Medical Center Ulm, Ulm, GermanyGATA2 deficiency is one of the most common genetic predispositions to pediatric myelodysplastic syndrome (MDS) in children and adolescents. The wide spectrum of disease comprises, among others, hematological, immunological and pulmonary manifestations, as well as occasionally distinct organ anomalies. Due to the elevated risk of progression, nearly all individuals with GATA2-related MDS eventually undergo a hematopoietic stem cell transplantation (HSCT) at some point in their lives. Nevertheless, the optimal timing, method, and even the indication for HSCT in certain cases are still matter of debate and warrant further research. In this article, we report five patients with different hematological and immunological manifestations of GATA2 deficiency ranging from immunodeficiency and refractory cytopenia of childhood without chromosomal aberrations to relapsed MDS-related acute myeloid leukemia. We discuss the adopted strategies, including intensity of surveillance, indication and timing of HSCT, based on morphological, clinical and molecular markers, as well as individual patient needs. We conclude that a better characterization of the natural disease course, a better understanding of the prognostic significance of somatic aberrations and a thorough evaluation of patients´ perspectives and preferences are required to achieve a personalized approach aimed at improving the care of these patients.https://www.frontiersin.org/articles/10.3389/fonc.2024.1423856/fullGATA2HSCTmdsmyeloid neoplasiaCancer predisposition |
| spellingShingle | Luca Vinci Brigitte Strahm Carsten Speckmann Carsten Speckmann Miriam Erlacher Miriam Erlacher The different faces of GATA2 deficiency: implications for therapy and surveillance Frontiers in Oncology GATA2 HSCT mds myeloid neoplasia Cancer predisposition |
| title | The different faces of GATA2 deficiency: implications for therapy and surveillance |
| title_full | The different faces of GATA2 deficiency: implications for therapy and surveillance |
| title_fullStr | The different faces of GATA2 deficiency: implications for therapy and surveillance |
| title_full_unstemmed | The different faces of GATA2 deficiency: implications for therapy and surveillance |
| title_short | The different faces of GATA2 deficiency: implications for therapy and surveillance |
| title_sort | different faces of gata2 deficiency implications for therapy and surveillance |
| topic | GATA2 HSCT mds myeloid neoplasia Cancer predisposition |
| url | https://www.frontiersin.org/articles/10.3389/fonc.2024.1423856/full |
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