Leukemia

2025-07-09
14:51
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ID: 15931

Leukemia

Acute Leukemia
- Acute Lymphoblastic Leukemia-ALL
- Acute Myeloid Leukemia-AML
Chronic leukemia
- Chronic Myeloid Leukemia-CML
- Chronic Lymphocytic Leukemia-CLL
- Plasma cell Leukemia-PCL
- Hairy cell leukemia-HCL

Acute Leukemia

o Acute Lymphoblastic Leukemia – ALL

Definition:

Acute lymphoblastic leukemia/lymphoblastic lymphoma (ALL/LBL) is the most common childhood malignancy. Leukemia and lymphoma are overlapping clinical presentations of the same disease. Diagnosis and classification do not distinguish between these entities and they should be referred to collectively as ALL/LBL [1]. ALL/LBL comprises B-lineage, T-lineage, and uncommon variants (ie, NK-lineage, early T progenitor ALL [a provisional diagnostic category]).

Panel Tests:

Immunophenotyping Flow Cytometry

CD19, CD20, CD22, CD4, CD8, CD3, CD2, CD7, CD34, CD10, CD1a, CD45, TCR γ-δ, cytoplasmic CD3, TdT.

B-Cell Acute Lymphocytic Leukemia (B-ALL) Minimum Residual Disease Detection by Flow Cytometry Detect

References:

Acute Myeloid Leukemia-AML

Definition:

Acute myeloid leukemia (AML) consists of a group of relatively well-defined hematopoietic neoplasms involving precursor cells committed to the myeloid line of cellular development (ie, those giving rise to granulocytic, monocytic, erythroid, or megakaryocytic elements). AML has also been called acute myelogenous leukemia and acute non-lymphocytic leukemia. AML is characterized by a clonal proliferation of myeloid precursors with a reduced capacity to differentiate into more mature cellular elements. As a result, there is an accumulation of leukemic blasts or immature forms in the bone marrow, peripheral blood, and occasionally in other tissues, with a variable reduction in the production of normal red blood cells, platelets, and mature granulocytes. The increased production of malignant cells, along with a reduction in these mature elements, results in a variety of systemic consequences including anemia, bleeding, and an increased risk of infection.

Panel Test:

Immunophenotyping Flow Cytometry

Leukemia/Lymphoma Phenotyping Evaluation by Flow Cytometry 3001780

CD13, CD33, CD117, CD34, CD14, MPO, CD61, CD64, CD41, CD15, CD45,

HLA-DR

References:

World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, Swerdlow SH, Campo E, Harris NL, et al. (Eds), IARC Press, Lyon 2008.
Arber DA, Orazi A, Hasserjian R, et al. The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Blood 2016; 127:2391

Chronic leukemia
- Chronic Myeloid Leukemia-CML

Definition:

Chronic myelomonocytic leukemia (CMML) is a malignant hematopoietic stem cell disorder with clinical and pathological features of both a myeloproliferative neoplasm (MPN) and myelodysplastic syndrome (MDS). CMML is characterized by a peripheral blood monocytosis accompanied by bone marrow dysplasia; cytopenias and hepatosplenomegaly are common. There is a propensity for progression to acute myeloid leukemia (AML), which is defined by ≥20 percent marrow blast cells. Although historically considered a subtype of MDS, CMML is a clinically and genetically distinct entity with a unique clinical presentation and natural history. CMML is among the most aggressive chronic leukemias, and there are fewer effective therapies than for most other hematologic malignancies. However, murine models and genomic data have laid a scientific foundation for the generation of novel therapeutics that is anticipated to broaden treatment options for CMML patients.

Diagnostic Tests:

The diagnosis of CMML should be considered in all patients with persistent, unexplained peripheral monocytosis. The diagnosis is usually made based upon findings in the peripheral blood and bone marrow as interpreted within the clinical context.

Pathologic features:

All patients will demonstrate involvement of the peripheral blood and bone marrow at the time of presentation. Extramedullary infiltration of the spleen, liver, skin, and lymph nodes are less common.

Peripheral blood:

Cases of CMML have a persistent peripheral blood monocyte count >1000/microL that makes up >10 percent of the entire leukocyte differential. Patients with extreme leukocytosis due to other causes, such as severe infection or therapy with hematopoietic growth factors, should not be confused with CMML, as while they may have an absolute monocyte count >1000/microL, monocytes make up only a small fraction of the total white blood cell count. Despite a relative increase in monocytes, the total white blood cell count is not increased in many CMML cases. Myeloid dysplasia may be seen in all myeloid subsets, and unique abnormal mononuclear cells exhibiting features intermediate between myelocytes and monocytes, termed “paramyeloid cells,” are often apparent. By definition, the peripheral blood blast percentage must be lower than 20 percent. Cytopenias and other common features of myelodysplastic syndrome (MDS), such as neutrophil hypolobation, may be seen in the peripheral blood

Bone marrow biopsy and aspirate

The bone marrow in CMML is uniformly hypercellular, with increased mononuclear cells and their progenitors, as well as abnormal mononuclear cells exhibiting features intermediate between myelocytes and monocytes. Cells of the monocytic line can be distinguished from granulocytic myeloid precursors using a combined esterase stain.

Clinical genetic evaluation:

Cytogenetic abnormalities are identified in 30 percent of CMML cases. Given that dysplasia is often subtle in CMML and clonal karyotypic markers are absent in 70 percent of cases, clinicians are often faced with the diagnostic challenge of a patient who has persistent monocytosis in whom benign causes of monocytosis cannot be excluded. It is within this clinical scenario that mutational analysis can be beneficial. Genetic profiling can be done using cells from the bone marrow or peripheral blood. In one analysis, sequencing nine genes (ie, SRSF2, ASXL1, CBL, EZH2, JAK2, KRAS, NRAS, RUNX1, and TET2) could identify a clonal event in >90 percent of suspected CMML cases [8]. Detection of a somatic mutation provides definitive evidence of clonality, which along with persistent monocytosis supports a diagnosis of CMML. Further, mutational profiling is integrated in several prognostic scores that accurately risk stratify cases of CMML.

References:

Chronic Lymphocytic Leukemia-CLL

Definition:

Chronic lymphocytic leukemia (CLL) is characterized by the progressive accumulation of usually monoclonal, functionally incompetent lymphocytes. Patients with CLL commonly develop complications associated with the intrinsic immune dysfunction that results in immunodeficiency and the development of autoimmune disorders.

Panel tests:

Flow cytometry panel:

Leukemia/Lymphoma Phenotyping Evaluation by Flow Cytometry

Aid in evaluation of hematopoietic neoplasms (ie, leukemia, lymphoma)

B-CLL Panel is CD5, CD19, CD10, CD20, CD23, CD200, FMC7.

References:

Plasma cell leukemia

Definition:

Plasma cell leukemia (PCL) is a rare, yet aggressive form of multiple myeloma characterized by high levels of plasma cells circulating in the peripheral blood. PCL can either originate de novo (primary PCL) or as a secondary leukemic transformation of multiple myeloma (secondary PCL).

Panel tests:

Flow cytometry panel:

CD19, CD38, CD45, CD138, CD56, Kappa, Lambda

References:

Hairy cell leukemia

Definition:

Hairy cell leukemia (HCL) is an uncommon chronic B cell lymphoproliferative disorder (lymphoid neoplasm) characterized by the accumulation of small mature B cell lymphoid cells with abundant cytoplasm and “hairy” projections within the peripheral blood, bone marrow, and splenic red pulp. This typically results in splenomegaly and a variable reduction in the production of normal red blood cells, platelets, mature granulocytes, and monocytes. The increased production of malignant cells, along with a reduction in these mature elements, results in a variety of systemic consequences, including splenomegaly, anemia, bleeding, and an increased risk of infection.

Panel tests:

CD19, CD11c, CD20, CD25, CD45, CD103, CD123.

References:

Leukemia

Leukemia

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