Hematology Interest Group
June 11, 2017
82-year-old female presents with generalized symptoms include fever, fatigue, malaise, shortness of breath, easy bruising, petechiae, joint pain, and frequent infections. A CBC was performed and a macrocytic (MCV, 101.6 fL) anemia (Hemoglobin, 12.2%) with thrombocytopenia (Platelets, 37x 103/uL) was noted. The smear showed a leukopenia with neutropenia and an increase in blast.
Red Blood Cell Count (RBC)
1.20 x 10 x106/uL
4.2 – 5.4 x106/uL
12-16 g/ dL
Mean Corpuscular Volume (MCV)
37 x 103/uL
140-440 x 103/uL
White Blood Cell Count (WBC)
4.8-10.8 x 103/uL
50 – 70%
2.5 x 103/uL
20 – 40%
1.2 - 3.4x103/uL
2.2 x 103/uL
0-0.7 x 103/uL
0-0.5 x 103/uL
0-0.2 x 103/uL
< 1 / 100 WBC
Macrocytic normochromic anemia with mild polychromasia, marked anisocytosis, numerous ovalocytes and rare teardrop cells.
No clumps seen.
No assay specific abnormalities were detected using AML1/ETO (RUNX1/RUNX1T1), PML/RARA and CBFB/MYH11 dual color, dual fusion translocation assay and the MLL dual color, break apart rearrangement assay.
Locus-specific, centromeric (enumeration), break-apart and/or dual-fusion probes were hybridized according to validation procedures and a minimum of 200 non-overlapping nuclei were analyzed for each probe. For patient specimens processed with plasma cell enrichment (PCE) a minimum of 50 non-overlapping nuclei are analyzed for each probe. PCE utilizes a CD138 positive selectivity kit to purify plasma cells.
The tests in this panel are designed to detect cytogenetic aberrations that may assist in the diagnosis and/or prognostication of hematologic malignancies. No therapeutic action should be taken solely upon these test results.
Specimen: Bone Marrow
These findings are consistent with acute myeloid leukemia. Clinical histologic and cytogenetic correlation is recommended for full interpretation.
Analysis of the dim CD45 gate demonstrates blast population. They express CD34, CD117, CD43, CD38, CD13, and CD33.
Immunophenotypic analysis on the lymphoid gated population shows an increase in T-cells with increased CD4:CD8 ratio and normal pan T-cell antigen expression. Small population of polyclonal B-cells and remainder are NK cells.
The dominant population detected in this analysis is the myeloid population. Immunophenotypic analysis of these cells demonstrates evidence of markedly elevated blast population.
CD10, CD117, CD13, CD14, CD16, CD19, CD2, CD20, CD23, CD3, CD33, CD34, CD38, CD4, CD43, CD5, CD56, CD57, CD64, CD7, CD8, FMC7, HLADR, Kappa, and Lambda.
The smear shows a leukopenia with neutropenia. 85 percent circulating blasts are noted. The blasts are enlarged with enlarged nuclei with fine chromatin and a single nucleolus. There is surrounding blue cytoplasm with no auer rods seen. There is a severe macrocytic normochromic anemia noted with marked anisocytosis. Numerous ovalocytes and teardrop cells are seen with mild polychromasia also noted. Occasional schistocytes are seen. There is a moderate thrombocytopenia noted with no clusters of platelets.
Acute Myelogenous Leukemia without achieving remission
Acute myelogenous leukemia (AML) is a clonal disease of hematopoietic progenitor cells, leading to increased number of blasts in the blood and/or bone marrow. The clinical presentation of AML is nonspecific but reflects decreased production of normal bone marrow elements as the abnormal cells begin to crowd out the normal white blood cells, red blood cells, and platelets.
Anemia, thrombocytopenia, and neutropenia give rise to the clinical findings of pallor, fatigue, bruising and bleeding. Total WBC count may be normal, increased, or decreased and normally ranges between 1 - 200 x 109/L. The bone marrow is hypercellular with greater than 20% blast. Other abnormal laboratory test results include:
The diagnosis of AML requires the identification of greater than 20% blasts or blast equivalents in the bone marrow. The leukemic clone giving rise to AML can occur at any point in the differentiation of the myeloid cell, creating heterogeneity among patients. A bone marrow biopsy should be evaluated by cytochemistry, immunophenotyping by flow cytometry, and cytogenetics. Conventional karyotyping is considered the strongest prognostic factor for response to induction therapy and survival. However, up-to 50% of patients with AML have no clonal chromosomal abnormalities. AML without chromosomal abnormalities are referred to as, cytogenetically normal AML (CN-AML). According to the World Health Organization (WHO) guidelines, CN-AML patients should be screened for mutations in the NPM1, CEBPA, and FLT3 genes by conventional karyotyping in order to determine appropriate risk status. Despite recent advancements in molecular testing prognosis for older patients with AML remains poor due to limited treatment options.
Samantha Dewey, MLS(ASCP)SH
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