Acute lymphoblastic leukemia other diagnostic studies

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Raviteja Guddeti, M.B.B.S. [2] Carlos A Lopez, M.D. [3]

Overview

Other diagnostic studies for acute lymphoblastic leukemia include cytogenetics, bone marrow biopsy, flow cytometry, RT-PCR and FISH.

Cytogenetics

Cytogenetics (particularly the presence of Philadelphia chromosome) and immunophenotyping, establish whether the "blast" cells began from the B lymphocytes or T lymphocytes. DNA testing can establish how aggressive the disease is; different mutations have been associated with shorter or longer survival.

Biopsy

A biopsy is the only sure way to know whether leukemia cells are in the bone marrow. Before the sample is taken, local anesthesia is used to numb the area. This helps reduce the pain. Bone marrow from your hipbone or another large bone is taken as biopsy.[1]

A bone marrow biopsy and aspirate are routinely performed even in T-cell acute lymphoblastic leukemia to determine the extent of marrow involvement. Malignant cells should be sent for conventional cytogenetic studies, as detection of the Ph1 t(9;22), myc gene rearrangements (in Burkitt leukemia), and Myeloid lymphocytic leukemia gene rearrangements add important prognostic information[2]

Flow cytometry

Flow cytometry should be performed to characterize expression of lineage-defining antigens and allow determination of the specific acute lymphoblastic leukemia subtype.[2]

RT-PCR and FISH

  • In addition, for B-cell disease the malignant cells should be analyzed using RT-PCR and FISH for evidence of the bcr-abl fusion gene. This last point is of utmost importance, as timely diagnosis of Ph1 acute lymphoblastic leukemia will significantly change the therapeutic approach.[2]

References

  1. Harrison's Principles of Internal Medicine, 16th EditioN, Chapter 97. Malignancies of Lymphoid Cells. Clinical Features, Treatment, and Prognosis of Specific Lymphoid Malignancies.
  2. 2.0 2.1 2.2 "National Cancer Institute". 

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