When Should We Think of Myelodysplasia or Bone Marrow Failure in a Thrombocytopenic Patient? A Practical Approach to Diagnosis
Thrombocytopenia can arise from various conditions, including myelodysplastic syndromes (MDS) and bone marrow failure (BMF) syndromes. Meticulous assessment of the peripheral blood smear, identification of accompanying clinical conditions, and characterization of the clinical course are important fo...
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| Format: | Article |
| Language: | English |
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MDPI AG
2021-03-01
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| Series: | Journal of Clinical Medicine |
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| Online Access: | https://www.mdpi.com/2077-0383/10/5/1026 |
| _version_ | 1797415933734551552 |
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| author | Nicolas Bonadies Alicia Rovó Naomi Porret Ulrike Bacher |
| author_facet | Nicolas Bonadies Alicia Rovó Naomi Porret Ulrike Bacher |
| author_sort | Nicolas Bonadies |
| collection | DOAJ |
| description | Thrombocytopenia can arise from various conditions, including myelodysplastic syndromes (MDS) and bone marrow failure (BMF) syndromes. Meticulous assessment of the peripheral blood smear, identification of accompanying clinical conditions, and characterization of the clinical course are important for initial assessment of unexplained thrombocytopenia. Increased awareness is required to identify patients with suspected MDS or BMF, who are in need of further investigations by a step-wise approach. Bone marrow cytomorphology, histopathology, and cytogenetics are complemented by myeloid next-generation sequencing (NGS) panels. Such panels are helpful to distinguish reactive cytopenia from clonal conditions. MDS are caused by mutations in the hematopoietic stem/progenitor cells, characterized by cytopenia and dysplasia, and an inherent risk of leukemic progression. Aplastic anemia (AA), the most frequent acquired BMF, is immunologically driven and characterized by an empty bone marrow. Diagnosis remains challenging due to overlaps with other hematological disorders. Congenital BMF, certainly rare in adulthood, can present atypically with thrombocytopenia and can be misdiagnosed. Analyses for chromosome fragility, telomere length, and germline gene sequencing are needed. Interdisciplinary expert teams contribute to diagnosis, prognostication, and choice of therapy for patients with suspected MDS and BMF. With this review we aim to increase the awareness and provide practical approaches for diagnosis of these conditions in suspicious cases presenting with thrombocytopenia. |
| first_indexed | 2024-03-09T05:56:35Z |
| format | Article |
| id | doaj.art-bc38480b7abf4a38af8e9bdbbac88499 |
| institution | Directory Open Access Journal |
| issn | 2077-0383 |
| language | English |
| last_indexed | 2024-03-09T05:56:35Z |
| publishDate | 2021-03-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Journal of Clinical Medicine |
| spelling | doaj.art-bc38480b7abf4a38af8e9bdbbac884992023-12-03T12:13:33ZengMDPI AGJournal of Clinical Medicine2077-03832021-03-01105102610.3390/jcm10051026When Should We Think of Myelodysplasia or Bone Marrow Failure in a Thrombocytopenic Patient? A Practical Approach to DiagnosisNicolas Bonadies0Alicia Rovó1Naomi Porret2Ulrike Bacher3Department of Hematology and Central Hematology Laboratory, Inselspital Bern, University of Bern, 3010 Bern, SwitzerlandDepartment of Hematology and Central Hematology Laboratory, Inselspital Bern, University of Bern, 3010 Bern, SwitzerlandDepartment of Hematology and Central Hematology Laboratory, Inselspital Bern, University of Bern, 3010 Bern, SwitzerlandDepartment of Hematology and Central Hematology Laboratory, Inselspital Bern, University of Bern, 3010 Bern, SwitzerlandThrombocytopenia can arise from various conditions, including myelodysplastic syndromes (MDS) and bone marrow failure (BMF) syndromes. Meticulous assessment of the peripheral blood smear, identification of accompanying clinical conditions, and characterization of the clinical course are important for initial assessment of unexplained thrombocytopenia. Increased awareness is required to identify patients with suspected MDS or BMF, who are in need of further investigations by a step-wise approach. Bone marrow cytomorphology, histopathology, and cytogenetics are complemented by myeloid next-generation sequencing (NGS) panels. Such panels are helpful to distinguish reactive cytopenia from clonal conditions. MDS are caused by mutations in the hematopoietic stem/progenitor cells, characterized by cytopenia and dysplasia, and an inherent risk of leukemic progression. Aplastic anemia (AA), the most frequent acquired BMF, is immunologically driven and characterized by an empty bone marrow. Diagnosis remains challenging due to overlaps with other hematological disorders. Congenital BMF, certainly rare in adulthood, can present atypically with thrombocytopenia and can be misdiagnosed. Analyses for chromosome fragility, telomere length, and germline gene sequencing are needed. Interdisciplinary expert teams contribute to diagnosis, prognostication, and choice of therapy for patients with suspected MDS and BMF. With this review we aim to increase the awareness and provide practical approaches for diagnosis of these conditions in suspicious cases presenting with thrombocytopenia.https://www.mdpi.com/2077-0383/10/5/1026thrombocytopeniamyelodysplastic syndromes (MDS)bone marrow failure (BMF) syndromesaplastic anemia (AA)next-generation sequencing (NGS) |
| spellingShingle | Nicolas Bonadies Alicia Rovó Naomi Porret Ulrike Bacher When Should We Think of Myelodysplasia or Bone Marrow Failure in a Thrombocytopenic Patient? A Practical Approach to Diagnosis Journal of Clinical Medicine thrombocytopenia myelodysplastic syndromes (MDS) bone marrow failure (BMF) syndromes aplastic anemia (AA) next-generation sequencing (NGS) |
| title | When Should We Think of Myelodysplasia or Bone Marrow Failure in a Thrombocytopenic Patient? A Practical Approach to Diagnosis |
| title_full | When Should We Think of Myelodysplasia or Bone Marrow Failure in a Thrombocytopenic Patient? A Practical Approach to Diagnosis |
| title_fullStr | When Should We Think of Myelodysplasia or Bone Marrow Failure in a Thrombocytopenic Patient? A Practical Approach to Diagnosis |
| title_full_unstemmed | When Should We Think of Myelodysplasia or Bone Marrow Failure in a Thrombocytopenic Patient? A Practical Approach to Diagnosis |
| title_short | When Should We Think of Myelodysplasia or Bone Marrow Failure in a Thrombocytopenic Patient? A Practical Approach to Diagnosis |
| title_sort | when should we think of myelodysplasia or bone marrow failure in a thrombocytopenic patient a practical approach to diagnosis |
| topic | thrombocytopenia myelodysplastic syndromes (MDS) bone marrow failure (BMF) syndromes aplastic anemia (AA) next-generation sequencing (NGS) |
| url | https://www.mdpi.com/2077-0383/10/5/1026 |
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