Mature B-cell neoplasm
(Overview)

  • Method:
  • Anticoagulant:
  • Recommendation:
  • Method:
    Cytomorphology
  • Anticoagulant:
    EDTA
  • Recommendation:
    obligatory
  • Method:
    Immunophenotyping
  • Anticoagulant:
    EDTA or Heparin
  • Recommendation:
    obligatory
  • Method:
    Chromosome analysis
  • Anticoagulant:
    Heparin
  • Recommendation:
    facultative
  • Method:
    FISH
  • Anticoagulant:
    EDTA or Heparin
  • Recommendation:
    obligatory
  • Method:
    Molecular genetics
  • Anticoagulant:
    EDTA or Heparin
  • Recommendation:
    entity specific

Diseases of the lymphatic system of B-cells are characterized by a high heterogeneity. Depending on the entity, the clinical courses are indolent to aggressive. The different entities also differ in terms of genetics. For example, mature B-cell neoplasms exhibit a wide range of possible genetic abnormalities. Individual entities show typical patterns of balanced and/or unbalanced aberrations, but these are not specific enough for a final diagnosis. In the following overview, the characteristic immunophenotypic (see Table 1) and genetic features (see Table 2) of mature B-cell neoplasms are presented, which in combination with the methods of histology, immunohistochemistry and cytomorphology allow an exact diagnostic classification.

General overview of mature B-cell neoplasms

Classification

In the category of mature B-cell neoplasms, the WHO classification describes 34 different entities (Swerdlow et al. 2017), based on histology and immunophenotype. Cytogenetic and molecular genetic diagnostics significantly support differential diagnosis by detecting typical genetic patterns where appropriate. However, histology and immunophenotyping must always be consulted for an exact assignment of the disease to a specific entity.

Diagnostics

Diagnostics is based on the interaction of different methods:

  • Cytomorphology: Assessment of the degree of maturity and infiltration in the bone marrow or peripheral blood.

  • Immunophenotyping: assignment to the B or T cell lines. Many lymphomas show characteristic immunophenotypes (e.g. follicular lymphoma or mantle cell lymphoma), these are summarized in Table 1 (see Diagnostics, Immunophenotyping).

  • Chromosome analysis, FISH, molecular genetics: Detection of characteristic genetic abnormalities, an overview is given in Table 2 (see Diagnostics, Chromosome analysis / FISH / Molecular genetics).

  • Immunohistochemistry: central role in histopathology, especially of the lymph nodes.

Prognosis

Due to the heterogeneity and complexity of the abnormalities, the prognostic significance in individual cases is highly variable within the different entities. Therefore, in addition to clinical parameters, many individual diagnostic findings are crucial for the correct timing between watch and wait and initiation of therapy. Increasingly, these findings also directly influence the choice of therapeutic agents (precision medicine) and are taken into account in the approval of drugs (e.g. TP53 alterations in CLL).

Recommendation

The diagnosis of mature B-cell neoplasms is currently much more comprehensive than 5 - 10 years ago and their results from blood, bone marrow and/or lymph nodes often have a direct impact on the choice of a potential therapy in addition to diagnostic and prognostic relevance. Various therapeutic approaches are so effective that today the determination of measurable residual disease (MRD) is partly introduced into remission controls. The method of choice here is usually immunophenotyping.


Important note on the test material

If lymphoma cells are detected in the peripheral blood, the diagnosis can initially be made with a high degree of certainty without a bone marrow biopsy or lymph node removal. Based on these findings, an extended material withdrawal is then advisable in individual cases and if clinically relevant.

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