Eurofins Biomnis code

LLCTR

Specialty

Genetics

Clinical significance

The "LLCTR" NGS panel consists of an analysis of 10 genes: TP53, BTK, PLCG2, BCL2, CARD11, SF3B1, EP300, BAX, NOTCH1 and MCL1. As part of the therapeutic decision, it must be combined with 17p deletion (TP53 deletion) by the FISH technique and an IGHV mutation analysis. TP53 status guides treatment decisions in symptomatic CLL (iwCLL criteria). The presence of a TP53 mutation means that a BTKi (Bruton tyrosine kinase inhibitor) can be prescribed: ibrutinib or acalabrutinib. Secondary BTKi resistant mutations are classically reported in the BTK and PLCG2 genes, and more exceptionally in CARD11, SF3B1 or EP300 genes. In the absence of a TP53 mutation, determination of IGHV mutation status makes it possible to prioritise treatment between a combination of BCL2 inhibitor (venetoclax) and anti-CD20 (obinutuzumab) or a BTKi. Venetoclax resistance mutations have been reported in the BCL2, BAX, TP53 or MCL1 GENES. Mutations in the NOTCH1 gene have been reported to predict a poor response to 1st and 2nd generation anti-CD20 drugs. To date, there is very little data in the literature on the notion of secondary resistant mutations to PI3Ki (idelalisib).

Preanalytics

• 5 ml EDTA whole blood or 2 ml EDTA bone marrow or DNA extracted : (200ng of DNA minimum)
•   Ambient temperature

• A tube specifically for this analysis : No

Further information

Samples to be collected from Monday to Friday
Sample must be refrigerated if transport is > 48 hours
Use the specific request form B8-INTGB: Malignant blood disorders
Attach:
- the results of the FBC- platelets
- the bone marrow report
- the immunophenotyping report
- Results of lymph node histology (if performed)

Specific equipment available

• S9L: Envelopes yellow for karyotypes LYON

Documents to download

• Specific request form B8-INTGB
• Panel Form(DS119-INTGB)

Methodology

Method: Targeted sequencing of genes (NGS). - Library: Library Preparation Enzymatic Fragmentation Kit 2.0 Twist - NGS Platform: NovaSeq Illumina (2x150pb) - paired-end sequencing - Analysis software: Demultiplexage BCLconvert V3.10.5 / VarSome Pipeline version 11.8 (CE-IVD)

Turnaround time

10 days