MLL staging diagnostics for unclear cytopenia

One of the most frequent questions in hematological practices and hospitals is the clarification of cytopenias. The causes are manifold, especially in elderly patients, and can be benign or malignant. History and laboratory diagnostics can provide clues to possible causes, but often the picture remains unclear until the indication for bone marrow aspiration is given. After exclusion of reactive conditions, for example, myelodysplastic neoplasia is a common but by no means the only malignant cause of cytopenia. Acute leukemias, lymphomas, plasma cell myelomas and many others can be found in the examination material of corresponding patients.  

After bone marrow collection (aspiration and punching recommended), it is often not possible to assess which diagnostic methods are useful for diagnosing and characterizing the potential underlying bone marrow disease at the moment of sending the material to a specialized hematology laboratory. Therefore, MLL offers the option to order a "staged diagnostic workup" (see MLL Request Form). This includes a stepwise examination of the bone marrow aspirate (or blood sample), in the course of which the disease phenotype is first determined using suitable methods (cytomorphology and/or immunophenotyping) or other neoplasms are excluded. Only in the second step a decision is made on suitable methodological additions, especially with regard to the cyto- and molecular genetic characterization of a defined neoplasia or the extended exclusion of a clonal event. The latter is becoming increasingly important in times of newly defined entities such as CHIP and CCUS even in the case of inconspicuous phenotype diagnostics.

Such a staged approach ensures a more rational and faster use of the highly specific diagnostic armamentarium for patients and avoids additional costs for the healthcare system. A prerequisite for efficient implementation is the immediate processing of the relevant samples upon arrival at the laboratory. Although phenotype diagnosis by cytomorphology and immunophenotyping at MLL has a mean turnaround time of less than 24 hours, additional prioritization is required in view of up to 700 samples/day. Therefore, as part of a plausibility check performed by hematologists and biologists, which is performed for each individual sample immediately upon its arrival at MLL, cases with indications for step diagnostics are immediately assigned to a prioritized workflow. This ensures that the assessment of cytomorphology and immunophenotyping is performed within 2-3 and 4-5 hours, respectively, after sample arrival. If necessary, further diagnostics can then be performed on the fresh sample material within the same day.

In addition to the usual clinical information, we particularly require a sufficient amount of sample material (10-15 ml of heparin and EDTA each) from the colleagues sending in the samples. In addition, the scope of the methods used within the scope of a step-by-step diagnosis can be specified on our examination order, e.g. in order to limit the costs for inpatients.

If you have any questions regarding the request for step-by-step diagnostics in MLL, we will be happy to assist you in the usual manner by telephone (+49 89 99017-0) or via email to info@mll.com.