Hematologic Malignancies

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Laboratory testing for hematologic malignancies, including leukemias, lymphomas, and myeloid neoplasms, may include a variety of techniques such as flow cytometry, cytogenetic analysis, and molecular genetic testing. Laboratory testing may be involved in diagnosis, prognosis, minimal residual disease (MRD) assessment, treatment planning, and monitoring.

 

Acute Myeloid
Leukemia - AML

Evaluation of bone marrow and immunophenotypic, cytogenetic, and molecular genetic ancillary studies are necessary for accurate classification and risk stratification in AML.


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Myelodysplastic
Syndromes

Cytogenetic and molecular studies play a key role in evaluation of myelodysplastic syndromes, including in diagnosis, prognostic stratification, medical management, and monitoring.


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Myeloproliferative
Neoplasms

Laboratory testing for myeloproliferative neoplasms includes peripheral blood examination, bone marrow evaluation, cytogenetic testing, and molecular testing for specific mutations.

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Mast Cell
Disorders

The diagnostic approach to mast cell disorders depends on the type of disorder. Tests include serum tryptase measurement and KIT gene mutational analysis on bone marrow and/or peripheral blood.

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Minimal Residual
Disease Testing

Laboratory techniques used in minimal residual disease assessment include polymerase chain reaction (PCR), deep sequencing (a type of next generation sequencing, or NGS), and flow cytometry.

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Chronic Myeloid
Leukemia - CML

The presumptive diagnosis of CML is made from blood cell counts and peripheral smear examination. Further testing includes cytogenetics, FISH, PCR, and NGS.

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Acute Lymphoblastic
Leukemia - ALL

Tests used in ALL diagnosis, risk stratification, treatment planning, and monitoring include flow cytometry, morphology, cytogenetic studies, and fluorescence in situ hybridization (FISH) analysis.

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Chronic Lymphocytic
Leukemia - CLL

The diagnosis of CLL generally requires detection of CLL-type cells via flow cytometry. Cytogenetic and molecular testing also play an important role.

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Plasma Cell
Dyscrasias

Plasma cell dyscrasia evaluation begins with an investigation of the presence and type of monoclonal proteins (also known as M proteins) and proceeds with additional tests.

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Eosinophil-Related
Disorders - Eosinophilia

Identifying the underlying etiology of eosinophilia is essential and may require laboratory tests and histopathologic analysis.

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Mature B-Cell
Lymphomas

The diagnostic approach to mature B-cell lymphomas generally involves biopsy, phenotyping by flow cytometry and/or immunohistochemistry (IHC), and cytogenetic studies.

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T-Cell and
NK-Cell Lymphomas

The diagnostic approach to T- and NK-cell lymphomas varies by the disease suspected, but generally involves biopsy and phenotyping by flow cytometry and/or immunohistochemistry.

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