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

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.[4]
  • On biopsy the following is seen:[5]
    • High number of lymphoblast
    • Hypercellular marrow with subtotal depletion of fat cells[5]
    • Normal blood cell precursors
  • 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 MLL gene rearrangements add important prognostic information[6]

Flow cytometry

  • Flow cytometry should be performed to characterize expression of lineage-defining antigens and allow determination of the specific acute lymphoblastic leukemia subtype.[7][8]
    • CD19
    • CD20
    • CD22
    • CD24,
    • CD79a

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[9]
  • This last point is of utmost importance, as timely diagnosis of Ph1 acute lymphoblastic leukemia will significantly change the therapeutic approach.[6]

References

  1. Hakeem A, Shiekh AA, Bhat GM, Lone AR (2015). "Prognostification of ALL by Cytogenetics". Indian J Hematol Blood Transfus. 31 (3): 322–31. doi:10.1007/s12288-014-0483-0. PMC 4465518. PMID 26085716.
  2. Motlló C, Ribera JM, Morgades M, Granada I, Montesinos P, Mercadal S; et al. (2018). "Frequency and prognostic significance of additional cytogenetic abnormalities to the Philadelphia chromosome in young and older adults with acute lymphoblastic leukemia". Leuk Lymphoma. 59 (1): 146–154. doi:10.1080/10428194.2017.1326596. PMID 28554259.
  3. Woo JS, Alberti MO, Tirado CA (2014). "Childhood B-acute lymphoblastic leukemia: a genetic update". Exp Hematol Oncol. 3: 16. doi:10.1186/2162-3619-3-16. PMC 4063430. PMID 24949228.
  4. Harrison's Principles of Internal Medicine, 16th EditioN, Chapter 97. Malignancies of Lymphoid Cells. Clinical Features, Treatment, and Prognosis of Specific Lymphoid Malignancies.
  5. 5.0 5.1 Kröber SM, Greschniok A, Kaiserling E, Horny HP (2000). "Acute lymphoblastic leukaemia: correlation between morphological/immunohistochemical and molecular biological findings in bone marrow biopsy specimens". Mol Pathol. 53 (2): 83–7. PMC 1186910. PMID 10889907.
  6. 6.0 6.1 "National Cancer Institute".
  7. "National Cancer Institute".
  8. Chiaretti S, Zini G, Bassan R (2014). "Diagnosis and subclassification of acute lymphoblastic leukemia". Mediterr J Hematol Infect Dis. 6 (1): e2014073. doi:10.4084/MJHID.2014.073. PMC 4235437. PMID 25408859.
  9. Kamoda Y, Izumi K, Iioka F, Akasaka T, Nakamura F, Kishimori C; et al. (2016). "Philadelphia Chromosome-Positive Acute Lymphoblastic Leukemia Is Separated into Two Subgroups Associated with Survival by BCR-ABL Fluorescence in situ Hybridization of Segmented Cell Nuclei: Report from a Single Institution". Acta Haematol. 136 (3): 157–66. doi:10.1159/000445972. PMID 27537935.

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