Synoptic Diagnostics of Myeloproliferative Neoplasms: Morphology and Molecular Genetics
The diagnosis of a myeloid neoplasm relies on a combination of clinical, morphological, immunophenotypic and genetic features, and an integrated, multimodality approach is needed for precise classification. The basic diagnostics of myeloid neoplasms still rely on cell counts and morphology of periph...
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| Format: | Article |
| Language: | English |
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MDPI AG
2021-07-01
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| Series: | Cancers |
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| Online Access: | https://www.mdpi.com/2072-6694/13/14/3528 |
| _version_ | 1797527487905792000 |
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| author | Dominik Nann Falko Fend |
| author_facet | Dominik Nann Falko Fend |
| author_sort | Dominik Nann |
| collection | DOAJ |
| description | The diagnosis of a myeloid neoplasm relies on a combination of clinical, morphological, immunophenotypic and genetic features, and an integrated, multimodality approach is needed for precise classification. The basic diagnostics of myeloid neoplasms still rely on cell counts and morphology of peripheral blood and bone marrow aspirate, flow cytometry, cytogenetics and bone marrow trephine biopsy, but particularly in the setting of Ph− myeloproliferative neoplasms (MPN), the trephine biopsy has a crucial role. Nowadays, molecular studies are of great importance in confirming or refining a diagnosis and providing prognostic information. All myeloid neoplasms of chronic evolution included in this review, nowadays feature the presence or absence of specific genetic markers in their diagnostic criteria according to the current WHO classification, underlining the importance of molecular studies. Crucial differential diagnoses of Ph− MPN are the category of myeloid/lymphoid neoplasms with eosinophilia and gene rearrangement of <i>PDGFRA</i>, <i>PDGFRB</i> or <i>FGFR1</i>, or with <i>PCM1</i>-<i>JAK2</i>, and myelodysplastic/myeloproliferative neoplasms (MDS/MPN). This review focuses on morphological, immunophenotypical and molecular features of <i>BCR-ABL1</i>-negative MPN and their differential diagnoses. Furthermore, areas of difficulties and open questions in their classification are addressed, and the persistent role of morphology in the area of molecular medicine is discussed. |
| first_indexed | 2024-03-10T09:44:26Z |
| format | Article |
| id | doaj.art-d13b6bdb2a134c99b86525f3c9e796f0 |
| institution | Directory Open Access Journal |
| issn | 2072-6694 |
| language | English |
| last_indexed | 2024-03-10T09:44:26Z |
| publishDate | 2021-07-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Cancers |
| spelling | doaj.art-d13b6bdb2a134c99b86525f3c9e796f02023-11-22T03:24:46ZengMDPI AGCancers2072-66942021-07-011314352810.3390/cancers13143528Synoptic Diagnostics of Myeloproliferative Neoplasms: Morphology and Molecular GeneticsDominik Nann0Falko Fend1Institute of Pathology and Neuropathology, University Hospital Tübingen, 72076 Tübingen, GermanyInstitute of Pathology and Neuropathology, University Hospital Tübingen, 72076 Tübingen, GermanyThe diagnosis of a myeloid neoplasm relies on a combination of clinical, morphological, immunophenotypic and genetic features, and an integrated, multimodality approach is needed for precise classification. The basic diagnostics of myeloid neoplasms still rely on cell counts and morphology of peripheral blood and bone marrow aspirate, flow cytometry, cytogenetics and bone marrow trephine biopsy, but particularly in the setting of Ph− myeloproliferative neoplasms (MPN), the trephine biopsy has a crucial role. Nowadays, molecular studies are of great importance in confirming or refining a diagnosis and providing prognostic information. All myeloid neoplasms of chronic evolution included in this review, nowadays feature the presence or absence of specific genetic markers in their diagnostic criteria according to the current WHO classification, underlining the importance of molecular studies. Crucial differential diagnoses of Ph− MPN are the category of myeloid/lymphoid neoplasms with eosinophilia and gene rearrangement of <i>PDGFRA</i>, <i>PDGFRB</i> or <i>FGFR1</i>, or with <i>PCM1</i>-<i>JAK2</i>, and myelodysplastic/myeloproliferative neoplasms (MDS/MPN). This review focuses on morphological, immunophenotypical and molecular features of <i>BCR-ABL1</i>-negative MPN and their differential diagnoses. Furthermore, areas of difficulties and open questions in their classification are addressed, and the persistent role of morphology in the area of molecular medicine is discussed.https://www.mdpi.com/2072-6694/13/14/3528myeloproliferative neoplasmstrephine biopsymolecular geneticsbone marrowdifferential diagnosisclassification |
| spellingShingle | Dominik Nann Falko Fend Synoptic Diagnostics of Myeloproliferative Neoplasms: Morphology and Molecular Genetics Cancers myeloproliferative neoplasms trephine biopsy molecular genetics bone marrow differential diagnosis classification |
| title | Synoptic Diagnostics of Myeloproliferative Neoplasms: Morphology and Molecular Genetics |
| title_full | Synoptic Diagnostics of Myeloproliferative Neoplasms: Morphology and Molecular Genetics |
| title_fullStr | Synoptic Diagnostics of Myeloproliferative Neoplasms: Morphology and Molecular Genetics |
| title_full_unstemmed | Synoptic Diagnostics of Myeloproliferative Neoplasms: Morphology and Molecular Genetics |
| title_short | Synoptic Diagnostics of Myeloproliferative Neoplasms: Morphology and Molecular Genetics |
| title_sort | synoptic diagnostics of myeloproliferative neoplasms morphology and molecular genetics |
| topic | myeloproliferative neoplasms trephine biopsy molecular genetics bone marrow differential diagnosis classification |
| url | https://www.mdpi.com/2072-6694/13/14/3528 |
| work_keys_str_mv | AT dominiknann synopticdiagnosticsofmyeloproliferativeneoplasmsmorphologyandmoleculargenetics AT falkofend synopticdiagnosticsofmyeloproliferativeneoplasmsmorphologyandmoleculargenetics |