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Modern diagnostics in chronic myeloproliferative diseases (CMPDs)
T Haferlach1, W Kern, S Schnittger
1Laboratory for Leukemia Diagnostics, Department of Internal Medicine III, University Hospital Grosshadern, Ludwig-Maximilians-University, Marchioninistreet 15, 81377 Munich, Germany.
Insights
Accurate diagnosis of chronic myeloproliferative diseases (CMPDs) requires comprehensive laboratory testing. This approach is crucial for classification, treatment optimization, and monitoring minimal residual disease (MRD).
Area of Science:
- Hematology
- Oncology
- Clinical Pathology
Background:
- The World Health Organization (WHO) classifies chronic myeloproliferative diseases (CMPDs) into distinct entities, including chronic myeloid leukemia (CML), polycythemia vera (PV), and essential thrombocythemia (ET).
- CMPDs exhibit diverse clinical features and laboratory findings, necessitating specific diagnostic strategies for accurate classification.
- Effective management and monitoring of treatment response, particularly for minimal residual disease (MRD), require robust diagnostic methodologies.
Purpose of the Study:
- To outline essential laboratory diagnostic approaches for CMPDs at initial diagnosis.
- To detail laboratory follow-up strategies for monitoring treatment efficacy and MRD in CMPDs.
- To emphasize the therapeutic implications of comprehensive diagnostic panels in CMPD management.
Main Methods:
- Utilizing a comprehensive diagnostic panel including cytomorphology.
- Employing cytogenetic analysis for chromosomal abnormalities.
- Implementing molecular genetic methods for specific mutations and disease markers.
Main Results:
- A multi-faceted diagnostic approach is essential for precise classification of various CMPDs.
- Integrated laboratory testing enables effective monitoring of treatment response and minimal residual disease (MRD).
- The diagnostic strategy directly influences treatment optimization and patient management.
Conclusions:
- Establishing the correct diagnosis in CMPDs relies on a combination of cytomorphology, cytogenetics, and molecular genetics.
- Comprehensive diagnostic evaluation is critical for optimizing therapeutic strategies and assessing treatment outcomes.
- Accurate diagnosis and follow-up are paramount for managing patients with chronic myeloproliferative diseases.
Abstract:
According to the new WHO classification a group of chronic myeloproliferative diseases (CMPDs) were defined: chronic myeloid leukemia (CML), chronic neutrophilic leukemia (CNL), chronic eosinophilic leukemia and hypereosinophilic syndrome (CEL/HES), polycythemia vera (PV), chronic idiopathic myelofibrosis (with extramedullary hematopoiesis, CIMF), essential thrombocythemia (ET), and so called CMPD/unclassifiable. As clinical features and laboratory findings differ widely between these diseases several diagnostic approaches are mandatory at diagnosis for classification and are needed also for follow up studies, especially for the measurement of minimal residual disease (MRD). We here outline the laboratory set up at diagnosis and during follow up in CMPDs with specific focus on the respective therapeutical consequences. Only by using a comprehensive diagnostic panel including cytomorphology, cytogenetics, and molecular genetic methods establishing the correct diagnosis, optimizing treatment as well as evaluating treatment response is possible in CMPDs today.
