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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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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Frontiers Media S.A.
2023
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10119586/ https://www.ncbi.nlm.nih.gov/pubmed/37091189 http://dx.doi.org/10.3389/fonc.2023.1128533 |
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author | Feurstein, Simone |
author_facet | Feurstein, Simone |
author_sort | Feurstein, Simone |
collection | PubMed |
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. |
format | Online Article Text |
id | pubmed-10119586 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-101195862023-04-22 Emerging bone marrow failure syndromes- new pieces to an unsolved puzzle Feurstein, Simone Front Oncol Oncology 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. Frontiers Media S.A. 2023-04-06 /pmc/articles/PMC10119586/ /pubmed/37091189 http://dx.doi.org/10.3389/fonc.2023.1128533 Text en Copyright © 2023 Feurstein https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Oncology Feurstein, Simone Emerging bone marrow failure syndromes- new pieces to an unsolved puzzle |
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 | Oncology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10119586/ https://www.ncbi.nlm.nih.gov/pubmed/37091189 http://dx.doi.org/10.3389/fonc.2023.1128533 |
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