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Diagnostic Hematology
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Patient history : A 17-year-old male was referred to a local hospital for evaluation of thrombocytopenia, petechiae, and swelling of a large bruised area in the upper right quadrant. Questionable circulating blasts were seen on the peripheral blood smear at the initial assessment. The patient was in normal health one day prior to admission. Patient history showed no previous fever, bone pain, or malaise, but did indicate easy fatigability after physical activity. . At initial evaluation, the patient complained of headache in recent weeks but lacked other abnormal symptoms. Hepatosplenomegaly and lymphadenopathy were absent. The skin examinations revealed a small purpuric lesion on the tip of the tongue and diffuse petechiae predominantly on the lower extremities, but also on the torso and upper extremities. Chemistry, coagulation, and hematology tests were ordered, which included a bone marrow aspiration and biopsy
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Lab Diagnosis complete blood count (CBC) :
The complete blood count with differential revealed atypical promyelocytic cells with Auer rods and granulation . Anemia Hb=7.6mg\dI. Thrombocytopenia with a platelet count of 30 x103 µL. The WBC count also indicated decrease count of 1.8x109\L . The D-dimer was increased. The patient's fibrinogen was decreased.
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Lab Diagnosis Cytochemistry : Myeloperoxidase + Suddan black
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Lab Diagnosis Morphology :
The patient was admitted with symptoms of a hypergranular form of acute promyelocytic leukemia
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Lab Diagnosis Flow cytometry :
Flow cytometry results showed a spectrum (94% of WBCs) of increased forward and side scatter, including CD33 on 100% of cells, CD13 on 64%, and a dim HLA-DR expression
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Lab Diagnosis Cytogenetic :
Fluorescent in situ hybridization studies indicated presence of the APL fusion gene. This was contrary to qPCR results that were positive for the PML/RARA transcript associated with the disorder.
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Lab Diagnosis These results, in correlation with all clinical data, confirmed a persistent disease state of acute promyelocytic leukemia (APL with t15;17) .
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Summary : Acute promyelocytic leukemia (APL with t15;17) is a disease characterized by abnormal proliferation of promyelocytic cells in the peripheral blood and bone marrow, along with coagulopathy and thrombocytopenia. It is a variation of AML that frequently exhibits a typical chromosomal translocation. Laboratory analysis and confirmatory testing for the fusion gene make diagnosis and treatment of APL with t(15;17) possible.
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Treatment : Treatment of acute promyelocytic leukemia is unique and involves a combination regimen. Currently, APL with t(15;17) is different from other variations of AML in that it is the only one with a target specific therapy. The use of all-trans retinoic acid initiates differentiation of the immature myeloid cells and helps manage coagulopathy . Approximately six to eight random donor platelet units were administered before referral
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