How is acute lymphoblastic leukemia (ALL) diagnosed?

Updated: Jan 02, 2019
  • Author: Vikramjit S Kanwar, MBBS, MBA, MRCP(UK), FAAP; Chief Editor: Jennifer Reikes Willert, MD  more...
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Upon initial presentation, ensure the patient is clinically stable and work to establish a diagnosis. Obtain a complete blood cell (CBC) count with peripheral smear to be evaluated by a hematologist or hematopathologist for the presence of blasts. If significant number of blasts are seen, flow cytometry may rapidly confirm whether T-lineage or B-lineage acute lymphoblastic leukemia (ALL) is present. Blood chemistry drawn should include serum levels of uric acid, potassium, phosphorus, calcium, and lactate dehydrogenase (LDH) to determine the level of tumor lysis.

No imaging studies other than chest radiography to evaluate for a mediastinal mass should be required. If the physical examination reveals enlarged testes, perform ultrasonography to evaluate for testicular infiltration.

A bone marrow aspirate and biopsy performed under sedation will confirm the diagnosis with special stains (immunohistochemistry), and immunophenotyping, and allow collection of adequate sample for cytogenetics and molecular studies. A lumbar puncture with cytospin morphologic analysis to assess for central nervous system (CNS) involvement and to administer intrathecal chemotherapy is often performed at the same time.

Bone marrow and CSF studies are performed before any systemic chemotherapy, including oral steroid, is administered. In addition, if anthracyclines are to be administered, obtain a baseline echocardiogram and an electrocardiogram (ECG). Wherever possible, a central venous line should be placed prior to starting chemotherapy.

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