NeoTYPE CLL Profile
Also known as: CLL Profile
Use
The clinical course of chronic lymphocytic leukemia (CLL) is heterogeneous, ranging from very indolent with a nearly normal life expectancy to rapidly progressive leading to early death. Genomic alterations in genes such as TP53, BIRC3, NOTCH1, and SF3B1, unmutated IgVH, and 17p deletion by FISH are associated with adverse outcomes. These markers improve risk stratification and treatment selection beyond clinical staging. IgVH mutation status (optional add-on) and 17p deletion by FISH are particularly powerful biomarkers. SF3B1 mutations occur in 10-15% of patients and predict shortened time to treatment and poorer survival. NOTCH1 mutations are similarly prognostic. ATM mutations, when combined with 11q deletion, also indicate adverse outcomes. Other mutations in CARD11, CD79B, CXCR4, MYD88, BTK, and PLCG2 relate to resistance and sensitivity to therapies like BTK inhibitors.
Special Instructions
Not provided.
Limitations
Highly acidic or prolonged decalcification processes will not yield sufficient nucleic acid for molecular studies. Mercury fixatives should not be used as they can compromise the specimen quality. Accurate performance of molecular studies requires proper fixation and handling, thus zinc fixatives and inappropriate storage conditions should be avoided.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14 days
Related Documents
For more information, please review the documents below
Specimen
Bone Marrow
Volume
2 mL
Minimum Volume
Not provided
Container
EDTA tube
Collection Instructions
Ship same day and use a cold pack without direct contact with the specimen.
Storage Instructions
Use cold pack for transport. Avoid direct contact with specimen.
Causes for Rejection
Mercury fixatives, highly acidic or prolonged decalcification processes.