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  • Chronic myelogenous leukemia blast crisis is

    2019-06-20

    Chronic myelogenous leukemia blast crisis is highly refractory to standard induction chemotherapy, with a response rate of less than 20–30% [12,13]. In patient\'s with Imatinib resistant disease Dastanib and Nilotinib can help achieve hematological response however neither drug has been reported to be entirely effective in achieving complete cytogenetic remission or for treatment of blast crisis [14]. Further acute erythroid leukemia has an aggressive clinical course mostly with an adverse clinical outcome. Blast crisis with erythroblast phase is rare and remains a challenge to treat.
    Introduction Myelodysplastic syndrome (MDS) is an acquired, clonal stem-cell disorder characterized by dyshematopoiesis and stem-cell dysplasia of single or multiple blood cell lineages. MDS leads to varying degrees of cytopenias and, paradoxically, hypercellular bone marrow with potential evolution to acute myeloid leukemia (AML) or marrow failure [1–3]. As a result of dyserythropoiesis, red blood cell (RBC) morphological abnormalities, such as anisocytosis, poikilocytosis, macrocytosis and sometimes elliptocytosis, are often observed in MDS [1,2]. Schistocytes refer to fragmented RBCs and are commonly associated with causes of microangiopathic hemolytic anemia (MAHA). However, schistocytosis with a high reticulocyte count in the peripheral blood smear is a rare and unusual manifestation of MDS [1]. Karyotypic analysis is commonly used in the diagnostic work up of various hematological diseases. Some chromosome abnormalities are specifically associated with certain diseases or disease subtypes [4,5]. The detection of various chromosomal alterations not only assists in diagnosis, but also helps in the prognostication of patients [6]. However, due to technical limitations, such as the need for sufficient number of dividing malignant MAFP and the limited resolution of light microscopy, karyotypic analysis is able to detect such abnormalities in only about 50% of MDS cases [7]. Whole genome scanning technologies, such as chromosomal microarray analysis (CMA), using single nucleotide polymorphism (SNP) arrays, do not require dividing cells, have a much greater resolution than karyotypic analysis, and allow for detection of loss of heterozygosity (LOH) as well as changes in genomic copy number [7]. SNP-based CMAs also permit the detection of acquired copy-neutral LOH (cn-LOH), which is common in hematological malignancies [8], but undetectable by conventional cytogenetics [7,9].
    Materials and methods CMA was performed essentially as described in detail elsewhere [10]. Briefly, total genomic DNA from blood was digested with NspI restriction enzyme, ligated with an adaptor complimentary to polymerase chain reaction (PCR) primer, PCR amplified, purified using magnetic beads, fragmented, biotin labeled, and hybridized to an Affymetrix CytoScan HD array. The hybridized array was washed and scanned with a GeneChip Scanner 3000 7G. Intensities of probe hybridization were analyzed using Affymetrix GeneChip Command Console, and copy number and genotyping analyses were performed using Affymetrix Chromosome Analysis Suite software.
    Case summary and results Blood work on presentation showed pancytopenia (hemoglobin: 6.2g/dL, leukocytes: 3.5×109/L and platelets: 57×109/L) with reticulocyte count of 10.15% and hyperbilirubinemia with significant schistocytosis, elliptocytosis, tear drop cells and basophilic stippling, abnormal immature myeloid cells, hyposegmented hypogranular neutrophils and abnormal nucleated RBCs (Fig. 1A), pointing towards hemolysis. A work up for hemolytic anemia was ordered. Her blood counts had continued to fall. Her coagulation work up was normal. Direct and indirect Coombs tests were negative. Bilirubin was increased to 3.7mg/dL, with normal direct bilirubin and normal liver enzymes. LDH 683U/L, haptoglobin was <10mg/dL, and her ESR was 100mm. Serum folate, B12, iron and total iron binding capacity were within normal limits. Erythropoietin was elevated: 49.9 mU/mL. Chest and abdominal CT of lungs and liver ruled out metastasis from previous malignancies that could account for shortness of breath and elevated bilirubin levels. Paroxysmal nocturnal haemoglobinuria was also excluded based on normal CD55 and CD59 expression on flow cytometry.