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
- In Cytogenetics the following establishes whether the "blast" cells began from the B lymphocytes or T lymphocytes[1]
- 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.[3]
- On biopsy the following is seen:[4]
- High number of lymphoblast
- Hypercellular marrow with subtotal depletion of fat cells[4]
- 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[5]
Flow cytometry
- Flow cytometry should be performed to characterize expression of lineage-defining antigens and allow determination of the specific acute lymphoblastic leukemia subtype.[6]
- 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[7]
- This last point is of utmost importance, as timely diagnosis of Ph1 acute lymphoblastic leukemia will significantly change the therapeutic approach.[5]
References
- ↑ 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.
- ↑ 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.
- ↑ Harrison's Principles of Internal Medicine, 16th EditioN, Chapter 97. Malignancies of Lymphoid Cells. Clinical Features, Treatment, and Prognosis of Specific Lymphoid Malignancies.
- ↑ 4.0 4.1 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.
- ↑ 5.0 5.1 "National Cancer Institute".
- ↑ 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.
- ↑ 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.