Genetic Predisposition to Myelodysplastic Syndromes: A Challenge for Adult Hematologists
Myelodysplastic syndromes (MDS) arising in the context of inherited bone marrow failure syndromes (IBMFS) differ in terms of prognosis and treatment strategy compared to MDS occurring in the adult population without an inherited genetic predisposition. The main molecular pathways affected in IBMFS i...
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| Format: | Article |
| Language: | English |
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MDPI AG
2021-03-01
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| Series: | International Journal of Molecular Sciences |
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| Online Access: | https://www.mdpi.com/1422-0067/22/5/2525 |
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| author | Elena Crisà Paola Boggione Maura Nicolosi Abdurraouf Mokhtar Mahmoud Wael Al Essa Bassel Awikeh Anna Aspesi Annalisa Andorno Renzo Boldorini Irma Dianzani Gianluca Gaidano Andrea Patriarca |
| author_facet | Elena Crisà Paola Boggione Maura Nicolosi Abdurraouf Mokhtar Mahmoud Wael Al Essa Bassel Awikeh Anna Aspesi Annalisa Andorno Renzo Boldorini Irma Dianzani Gianluca Gaidano Andrea Patriarca |
| author_sort | Elena Crisà |
| collection | DOAJ |
| description | Myelodysplastic syndromes (MDS) arising in the context of inherited bone marrow failure syndromes (IBMFS) differ in terms of prognosis and treatment strategy compared to MDS occurring in the adult population without an inherited genetic predisposition. The main molecular pathways affected in IBMFS involve telomere maintenance, DNA repair, biogenesis of ribosomes, control of proliferation and others. The increased knowledge on the genes involved in MDS pathogenesis and the wider availability of molecular diagnostic assessment have led to an improvement in the detection of IBMFS genetic predisposition in MDS patients. A punctual recognition of these disorders implies a strict surveillance of the patient in order to detect early signs of progression and promptly offer allogeneic hematopoietic stem cell transplantation, which is the only curative treatment. Moreover, identifying an inherited mutation allows the screening and counseling of family members and directs the choice of donors in case of need for transplantation. Here we provide an overview of the most recent data on MDS with genetic predisposition highlighting the main steps of the diagnostic and therapeutic management. In order to highlight the pitfalls of detecting IBMFS in adults, we report the case of a 27-year-old man affected by MDS with an underlying telomeropathy. |
| first_indexed | 2024-03-09T05:48:59Z |
| format | Article |
| id | doaj.art-3b3b6ef85d5a489cb3eac6fff44f445c |
| institution | Directory Open Access Journal |
| issn | 1661-6596 1422-0067 |
| language | English |
| last_indexed | 2024-03-09T05:48:59Z |
| publishDate | 2021-03-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Molecular Sciences |
| spelling | doaj.art-3b3b6ef85d5a489cb3eac6fff44f445c2023-12-03T12:18:57ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672021-03-01225252510.3390/ijms22052525Genetic Predisposition to Myelodysplastic Syndromes: A Challenge for Adult HematologistsElena Crisà0Paola Boggione1Maura Nicolosi2Abdurraouf Mokhtar Mahmoud3Wael Al Essa4Bassel Awikeh5Anna Aspesi6Annalisa Andorno7Renzo Boldorini8Irma Dianzani9Gianluca Gaidano10Andrea Patriarca11Division of Hematology, Department of Translational Medicine, University of Eastern Piedmont and Azienda Ospedaliero-Universitaria Maggiore della Carità, 28100 Novara, ItalyDivision of Hematology, Department of Translational Medicine, University of Eastern Piedmont and Azienda Ospedaliero-Universitaria Maggiore della Carità, 28100 Novara, ItalyDivision of Hematology, Department of Translational Medicine, University of Eastern Piedmont and Azienda Ospedaliero-Universitaria Maggiore della Carità, 28100 Novara, ItalyDivision of Hematology, Department of Translational Medicine, University of Eastern Piedmont and Azienda Ospedaliero-Universitaria Maggiore della Carità, 28100 Novara, ItalyDivision of Hematology, Department of Translational Medicine, University of Eastern Piedmont and Azienda Ospedaliero-Universitaria Maggiore della Carità, 28100 Novara, ItalyDivision of Hematology, Department of Translational Medicine, University of Eastern Piedmont and Azienda Ospedaliero-Universitaria Maggiore della Carità, 28100 Novara, ItalyLaboratory of Genetic Pathology, Division of Pathology, Department of Health Sciences, University of Eastern Piedmont and Azienda Ospedaliero-Universitaria Maggiore della Carità, 28100 Novara, ItalyDivision of Pathology, Department of Health Sciences, University of Eastern Piedmont and Azienda Ospedaliero-Universitaria Maggiore della Carità, 28100 Novara, ItalyDivision of Pathology, Department of Health Sciences, University of Eastern Piedmont and Azienda Ospedaliero-Universitaria Maggiore della Carità, 28100 Novara, ItalyLaboratory of Genetic Pathology, Division of Pathology, Department of Health Sciences, University of Eastern Piedmont and Azienda Ospedaliero-Universitaria Maggiore della Carità, 28100 Novara, ItalyDivision of Hematology, Department of Translational Medicine, University of Eastern Piedmont and Azienda Ospedaliero-Universitaria Maggiore della Carità, 28100 Novara, ItalyDivision of Hematology, Department of Translational Medicine, University of Eastern Piedmont and Azienda Ospedaliero-Universitaria Maggiore della Carità, 28100 Novara, ItalyMyelodysplastic syndromes (MDS) arising in the context of inherited bone marrow failure syndromes (IBMFS) differ in terms of prognosis and treatment strategy compared to MDS occurring in the adult population without an inherited genetic predisposition. The main molecular pathways affected in IBMFS involve telomere maintenance, DNA repair, biogenesis of ribosomes, control of proliferation and others. The increased knowledge on the genes involved in MDS pathogenesis and the wider availability of molecular diagnostic assessment have led to an improvement in the detection of IBMFS genetic predisposition in MDS patients. A punctual recognition of these disorders implies a strict surveillance of the patient in order to detect early signs of progression and promptly offer allogeneic hematopoietic stem cell transplantation, which is the only curative treatment. Moreover, identifying an inherited mutation allows the screening and counseling of family members and directs the choice of donors in case of need for transplantation. Here we provide an overview of the most recent data on MDS with genetic predisposition highlighting the main steps of the diagnostic and therapeutic management. In order to highlight the pitfalls of detecting IBMFS in adults, we report the case of a 27-year-old man affected by MDS with an underlying telomeropathy.https://www.mdpi.com/1422-0067/22/5/2525genetic predispositionmyelodysplastic syndromesinherited bone marrow failure |
| spellingShingle | Elena Crisà Paola Boggione Maura Nicolosi Abdurraouf Mokhtar Mahmoud Wael Al Essa Bassel Awikeh Anna Aspesi Annalisa Andorno Renzo Boldorini Irma Dianzani Gianluca Gaidano Andrea Patriarca Genetic Predisposition to Myelodysplastic Syndromes: A Challenge for Adult Hematologists International Journal of Molecular Sciences genetic predisposition myelodysplastic syndromes inherited bone marrow failure |
| title | Genetic Predisposition to Myelodysplastic Syndromes: A Challenge for Adult Hematologists |
| title_full | Genetic Predisposition to Myelodysplastic Syndromes: A Challenge for Adult Hematologists |
| title_fullStr | Genetic Predisposition to Myelodysplastic Syndromes: A Challenge for Adult Hematologists |
| title_full_unstemmed | Genetic Predisposition to Myelodysplastic Syndromes: A Challenge for Adult Hematologists |
| title_short | Genetic Predisposition to Myelodysplastic Syndromes: A Challenge for Adult Hematologists |
| title_sort | genetic predisposition to myelodysplastic syndromes a challenge for adult hematologists |
| topic | genetic predisposition myelodysplastic syndromes inherited bone marrow failure |
| url | https://www.mdpi.com/1422-0067/22/5/2525 |
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