Emerging bone marrow failure syndromes- new pieces to an unsolved puzzle
Inherited bone marrow failure (BMF) syndromes are genetically diverse — more than 100 genes have been associated with those syndromes and the list is rapidly expanding. Risk assessment and genetic counseling of patients with recently discovered BMF syndromes is inherently difficult as disease mechan...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2023-04-01
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| Series: | Frontiers in Oncology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fonc.2023.1128533/full |
| _version_ | 1797851315709149184 |
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| author | Simone Feurstein |
| author_facet | Simone Feurstein |
| author_sort | Simone Feurstein |
| collection | DOAJ |
| description | Inherited bone marrow failure (BMF) syndromes are genetically diverse — more than 100 genes have been associated with those syndromes and the list is rapidly expanding. Risk assessment and genetic counseling of patients with recently discovered BMF syndromes is inherently difficult as disease mechanisms, penetrance, genotype-phenotype associations, phenotypic heterogeneity, risk of hematologic malignancies and clonal markers of disease progression are unknown or unclear. This review aims to shed light on recently described BMF syndromes with sparse concise data and with an emphasis on those associated with germline variants in ADH5/ALDH2, DNAJC21, ERCC6L2 and MECOM. This will provide important data that may help to individualize and improve care for these patients. |
| first_indexed | 2024-04-09T19:15:52Z |
| format | Article |
| id | doaj.art-956e7aff55dd44429e2bc474810203d9 |
| institution | Directory Open Access Journal |
| issn | 2234-943X |
| language | English |
| last_indexed | 2024-04-09T19:15:52Z |
| publishDate | 2023-04-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Oncology |
| spelling | doaj.art-956e7aff55dd44429e2bc474810203d92023-04-06T06:08:21ZengFrontiers Media S.A.Frontiers in Oncology2234-943X2023-04-011310.3389/fonc.2023.11285331128533Emerging bone marrow failure syndromes- new pieces to an unsolved puzzleSimone FeursteinInherited bone marrow failure (BMF) syndromes are genetically diverse — more than 100 genes have been associated with those syndromes and the list is rapidly expanding. Risk assessment and genetic counseling of patients with recently discovered BMF syndromes is inherently difficult as disease mechanisms, penetrance, genotype-phenotype associations, phenotypic heterogeneity, risk of hematologic malignancies and clonal markers of disease progression are unknown or unclear. This review aims to shed light on recently described BMF syndromes with sparse concise data and with an emphasis on those associated with germline variants in ADH5/ALDH2, DNAJC21, ERCC6L2 and MECOM. This will provide important data that may help to individualize and improve care for these patients.https://www.frontiersin.org/articles/10.3389/fonc.2023.1128533/fullbone marrow failureADH5ALDH2DNAJC21ERCC6L2MECOM |
| spellingShingle | Simone Feurstein Emerging bone marrow failure syndromes- new pieces to an unsolved puzzle Frontiers in Oncology bone marrow failure ADH5 ALDH2 DNAJC21 ERCC6L2 MECOM |
| title | Emerging bone marrow failure syndromes- new pieces to an unsolved puzzle |
| title_full | Emerging bone marrow failure syndromes- new pieces to an unsolved puzzle |
| title_fullStr | Emerging bone marrow failure syndromes- new pieces to an unsolved puzzle |
| title_full_unstemmed | Emerging bone marrow failure syndromes- new pieces to an unsolved puzzle |
| title_short | Emerging bone marrow failure syndromes- new pieces to an unsolved puzzle |
| title_sort | emerging bone marrow failure syndromes new pieces to an unsolved puzzle |
| topic | bone marrow failure ADH5 ALDH2 DNAJC21 ERCC6L2 MECOM |
| url | https://www.frontiersin.org/articles/10.3389/fonc.2023.1128533/full |
| work_keys_str_mv | AT simonefeurstein emergingbonemarrowfailuresyndromesnewpiecestoanunsolvedpuzzle |