Clinical Discernment, Bone Marrow, and Molecular Diagnostics Are Equally Important to Solve the Phenotypic Mimicry among Subtypes of Myeloproliferative Neoplasms
The 2016 WHO classification integrates clinical, bone marrow (BM)-morphology, and molecular features to define disease entities. This together with the advancements in molecular detection and standardization of BM features enable an accurate diagnosis of myeloproliferative neoplasms (MPN) in the maj...
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MDPI AG
2021-08-01
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| author | Susann Schulze Nadia Jaekel Christin Le Hoa Naumann Anja Haak Marcus Bauer Claudia Wickenhauser Haifa Kathrin Al-Ali |
| author_facet | Susann Schulze Nadia Jaekel Christin Le Hoa Naumann Anja Haak Marcus Bauer Claudia Wickenhauser Haifa Kathrin Al-Ali |
| author_sort | Susann Schulze |
| collection | DOAJ |
| description | The 2016 WHO classification integrates clinical, bone marrow (BM)-morphology, and molecular features to define disease entities. This together with the advancements in molecular detection and standardization of BM features enable an accurate diagnosis of myeloproliferative neoplasms (MPN) in the majority of patients. Diagnostic challenges remain due to phenotypic mimicry of MPN, failing specificity of BM-morphology, and the fact that phenotype-driver mutations, such as <i>JAK2</i>V617F, are not exclusive to a particular MPN, and their absence does not preclude any of these. We present a series of cases to illustrate themes to be considered in complex cases of MPN, such as triple-negative (TN)-MPN or MPN-unclassifiable (MPN-U). Eleven patients labelled as TN-MPN or MPN-U were included. Serum tryptase and NGS were part of a systematic/sequential multidisciplinary evaluation. Results were clustered into four categories based on diagnostic entities and/or how these diagnoses were made: (A) With expanding molecular techniques, <i>BCR-ABL1</i> and karyotyping should not be missed; (B) systemic mastocytosis is underdiagnosed and often missed; (C) benign non-clonal disorders could mimic MPN; and (D) NGS could prove clonality in some “TN”-MPN cases. The prognostic/therapeutic consequences of an accurate diagnosis are immense. In TN-MPN or MPN-U cases, a multidisciplinary re-evaluation integrating molecular results, BM-morphology, and clinical judgment is crucial. |
| first_indexed | 2024-03-10T07:14:10Z |
| format | Article |
| id | doaj.art-2772895c9ad446bfa922b0ba4cd82324 |
| institution | Directory Open Access Journal |
| issn | 2571-841X |
| language | English |
| last_indexed | 2024-03-10T07:14:10Z |
| publishDate | 2021-08-01 |
| publisher | MDPI AG |
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| series | Reports |
| spelling | doaj.art-2772895c9ad446bfa922b0ba4cd823242023-11-22T15:08:32ZengMDPI AGReports2571-841X2021-08-01432710.3390/reports4030027Clinical Discernment, Bone Marrow, and Molecular Diagnostics Are Equally Important to Solve the Phenotypic Mimicry among Subtypes of Myeloproliferative NeoplasmsSusann Schulze0Nadia Jaekel1Christin Le Hoa Naumann2Anja Haak3Marcus Bauer4Claudia Wickenhauser5Haifa Kathrin Al-Ali6Krukenberg-Cancer Center Halle, University Hospital Halle, 06120 Halle (Saale), GermanyDepartment of Haematology/Oncology, University Hospital Halle, 06120 Halle (Saale), GermanyDepartment of Haematology/Oncology, University Hospital Halle, 06120 Halle (Saale), GermanyInstitute of Pathology, University Hospital of Halle, 06112 Halle (Saale), GermanyInstitute of Pathology, University Hospital of Halle, 06112 Halle (Saale), GermanyInstitute of Pathology, University Hospital of Halle, 06112 Halle (Saale), GermanyKrukenberg-Cancer Center Halle, University Hospital Halle, 06120 Halle (Saale), GermanyThe 2016 WHO classification integrates clinical, bone marrow (BM)-morphology, and molecular features to define disease entities. This together with the advancements in molecular detection and standardization of BM features enable an accurate diagnosis of myeloproliferative neoplasms (MPN) in the majority of patients. Diagnostic challenges remain due to phenotypic mimicry of MPN, failing specificity of BM-morphology, and the fact that phenotype-driver mutations, such as <i>JAK2</i>V617F, are not exclusive to a particular MPN, and their absence does not preclude any of these. We present a series of cases to illustrate themes to be considered in complex cases of MPN, such as triple-negative (TN)-MPN or MPN-unclassifiable (MPN-U). Eleven patients labelled as TN-MPN or MPN-U were included. Serum tryptase and NGS were part of a systematic/sequential multidisciplinary evaluation. Results were clustered into four categories based on diagnostic entities and/or how these diagnoses were made: (A) With expanding molecular techniques, <i>BCR-ABL1</i> and karyotyping should not be missed; (B) systemic mastocytosis is underdiagnosed and often missed; (C) benign non-clonal disorders could mimic MPN; and (D) NGS could prove clonality in some “TN”-MPN cases. The prognostic/therapeutic consequences of an accurate diagnosis are immense. In TN-MPN or MPN-U cases, a multidisciplinary re-evaluation integrating molecular results, BM-morphology, and clinical judgment is crucial.https://www.mdpi.com/2571-841X/4/3/27triple-negative myeloproliferative neoplasmsMPN-unclassifiablemastocytosismolecular diagnosticsnext-generation sequencing |
| spellingShingle | Susann Schulze Nadia Jaekel Christin Le Hoa Naumann Anja Haak Marcus Bauer Claudia Wickenhauser Haifa Kathrin Al-Ali Clinical Discernment, Bone Marrow, and Molecular Diagnostics Are Equally Important to Solve the Phenotypic Mimicry among Subtypes of Myeloproliferative Neoplasms Reports triple-negative myeloproliferative neoplasms MPN-unclassifiable mastocytosis molecular diagnostics next-generation sequencing |
| title | Clinical Discernment, Bone Marrow, and Molecular Diagnostics Are Equally Important to Solve the Phenotypic Mimicry among Subtypes of Myeloproliferative Neoplasms |
| title_full | Clinical Discernment, Bone Marrow, and Molecular Diagnostics Are Equally Important to Solve the Phenotypic Mimicry among Subtypes of Myeloproliferative Neoplasms |
| title_fullStr | Clinical Discernment, Bone Marrow, and Molecular Diagnostics Are Equally Important to Solve the Phenotypic Mimicry among Subtypes of Myeloproliferative Neoplasms |
| title_full_unstemmed | Clinical Discernment, Bone Marrow, and Molecular Diagnostics Are Equally Important to Solve the Phenotypic Mimicry among Subtypes of Myeloproliferative Neoplasms |
| title_short | Clinical Discernment, Bone Marrow, and Molecular Diagnostics Are Equally Important to Solve the Phenotypic Mimicry among Subtypes of Myeloproliferative Neoplasms |
| title_sort | clinical discernment bone marrow and molecular diagnostics are equally important to solve the phenotypic mimicry among subtypes of myeloproliferative neoplasms |
| topic | triple-negative myeloproliferative neoplasms MPN-unclassifiable mastocytosis molecular diagnostics next-generation sequencing |
| url | https://www.mdpi.com/2571-841X/4/3/27 |
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