Other CLL biomarkers1,2

  • CLL biomarkers can provide useful prognostic information beyond clinical staging1
  • For clinical trials, NCCN recommends that molecular genetics testing be performed before treating a patient on protocol1,3
  • Treatment initiation or selection of treatment options should not be driven by these factors1

Other Common Cytogenetic Abnormalities in CLL2

    Abnormality Features Frequency Associated Risk

    Del(13q)

    Deletion (del) in the long arm of chromosome 13

    55%

    • Favorable outcome, if not associated with any other abnormality

    Trisomy 12

    Three copies of chromosome 12

    16%
    • By itself, associated with neutral prognosis in CLL
    Abnormality Del(13q) Trisomy 12
    Features

    Deletion (del) in the long arm of chromosome 13

    Three copies of chromosome 12

    Frequency 55% 16%
    Associated Risk
    • Favorable outcome, if not associated with any other abnormality
    • By itself, associated with neutral prognosis in CLL

    Other Factors Associated with Higher-Risk CLL1,2,4

    Factor Features and Associated Outcomes

    CD38

    • Expression of CD38 (≥30%) is associated with shorter PFS and OS outcomes1

    CD49d

    • CD49d expression is an indicator of higher-risk disease.

    ZAP-70

    • ZAP-70 (zeta-chain-associated protein kinase 70)
    • Protein expressed near the surface membrane of T cells
    • Plays a key role in T-cell signaling
    • Increased expression of ZAP-70 may be associated with higher-risk disease.

    NOTCH1 Gene Mutations

    • NOTCH1 is a gene involved in the development of different types of blood cells.
    • Approximately 10%–15% of CLL patients have this mutation.
    • CLL patients who have NOTCH1 gene mutations may have a faster progression of disease and a less favorable outcome.
    • Associated with increased risk of transformation to diffuse large B-cell lymphoma (Richter transformation).
    SF3B1 Gene Mutations
    • The SF3B1 gene is involved in the forming of select proteins in CLL and other blood cancers.
    • Approximately 10%–15% percent of CLL patients have this mutation, resulting in dysfunctional protein processing.
    • CLL patients who have SF3B1 gene mutations may have a faster progression of disease and a less favorable outcome.
    • Associated with resistance to treatment with fludarabine.

    BIRC3 Gene Mutations

    • BIRC3 is involved in the regulation of cell apoptosis4
    • Mutations to BIRC3 are associated with chemorefractoriness and poor prognosis4

    Testing for biomarkers in CLL

    How are key prognostic biomarkers identified in the clinical laboratory?

    See how

    References: 1. Referenced with permission from the NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma V.4.2019. © National Comprehensive Cancer Network, Inc. 2019. All rights reserved. Accessed April 15, 2019. To view the most recent and complete version of the guideline, go online to NCCN.org. 2. Leukemia & Lymphoma Society. Chronic Lymphocytic Leukemia: Updated August 1, 2017. https://www.lls.org/sites/default/files/file_assets/PS34_CLL_Booklet_2017_9_7FINAL.pdf. Accessed March 7, 2019. 3. Hallek M, Cheson BD, Catovsky D, et al. iwCLL guidelines for diagnosis, indications for treatment, response assessment, and supportive management of CLL. Blood. 2018;131(25):2745-2760. 4. Rossi D, Fangazio M, Rasi S, et al. Disruption of BIRC3 associates with fludarabine chemorefractoriness in TP53 wild-type chronic lymphocytic leukemia. Blood. 2012;119(12):2854-62.

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