GENE PANELS

NGS-MRD FOR FLT3-ITD AND NPM1

DETAILS

 
Version :
Status :
Size :
Website :
1
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2 genes
Extra info :

Field of application

Measurable residual disease (MRD) detection for FLT3-ITD mutations and NPM1 mutations in patients with acute myeloid leukemia (AML). AML is a clinically and molecularly heterogeneous hematopoietic malignancy with high initial remission rates. The detection of measurable residual disease (MRD) has emerged as an independent prognostic marker to identify high-risk relapse patients and to evaluate the response to treatment. Common genetic mutations in cytogenetically normal (CN)-AML such as Nucleophosmin (NPM1) mutations and Flt-3 internal tandem duplication (Flt3-ITD) are used as valuable markers to quantify molecular MRD. For NPM1, type A mutation (c.860_863dupTCTG) accounts for 70–80% of cases while mutations B (c.863_864insCATG) and D (c.863_864insCCTG) together account for 15–20% and NPM1 mutations are a very stable marker during follow-up and disease relapse. Flt3-ITD mutations may be lost or acquired over the disease course, which implies that it should not be used a single molecular marker for MRD monitoring. Both diagnostic and follow-up sample are required for analysis. For the Flt3-ITD MRD assay, exons 14 and 15 of the FLT3 gene were amplified by PCR. For detection of all NPM1 mutations, exon 12 of the NPM1 gene was amplified.


Analysis

  • FLT3-ITD: Pindel

  • NPM1: samtools mpileup


Only RUO, no reimbursement

Method :

Test: in-house developed, based on the protocol of Bibault et al., Salipante et al. and Thol et al.

Salipante, S. J., Fromm, J. R., Shendure, J., Wood, B. L. & Wu, D. Detection of minimal residual disease in NPM1-mutated acute myeloid leukemia by next-generation sequencing. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 27, 1438-1446, doi:10.1038/modpathol.2014.57 (2014).

Bibault, J. E. et al. Next-generation sequencing of FLT3 internal tandem duplications for minimal residual disease monitoring in acute myeloid leukemia. Oncotarget 6, 22812-22821, doi:10.18632/oncotarget.4333 (2015).

Thol, F. et al. (2018). Acute myeloid leukemia derived from lympho-myeloid clonal hematopoiesis. Leukemia 31, 1286-1295, doi:10.1038/leu.2016.345 (2017).

CERTIFICATES

 
141-MED (UZ Brussel)
141-MED (UZ Brussel)

INSTRUMENTS

 
Illumina MiSeq
Illumina MiSeq

Our lowest capacity short reads sequencer, able to generate reads up to 300 bp in length and this at a throughput of 1M to 30M reads per run.

DOWNLOADS

 

CONTACT

 
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Secretariaat Moleculaire hematologie

+32 (0)2 477 50 30 (sec)

UZ Brussel

Moleculaire hematologie

Laarbeeklaan 101

1090 Brussels

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Marleen Bakkus

+32 (0)2 477 50 30 (sec)

UZ Brussel

Moleculaire hematologie

Laarbeeklaan 101

1090 Brussels

pas14klein.jpg

Barbara Depreter

+32 (0)2 477 50 30 (sec)

UZ Brussel

Moleculaire hematologie & HLA typing

Laarbeeklaan 101

1090 Brussels

SAMPLE TYPES

 

We aim to keep the list with sample types updated. However, if you believe we offer this gene panel on other sample types, or if you have a very specific sample type you'd like to evaluate : please contact the corresponding persons for either diagnostic or research purposes.

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Tissue
Recipient
Quantity
Transport
Purpose / Extract
Blood
EDTA tube
10 ml (min. 3 ml)
Room temperature
DNA
DNA from various tissues
Microtube*
See test details/specifications
Room temperature
DNA
DNA from various tissues
Microtube* or 96 well plate
See test details/specifications
Room temperature
DNA

* Microtube can be  a either a cryovial or eppendorf tube (0,5 ; 1,5 or 2 ml). Please consider the quality of the tube used (nuclease free ; free of RNA/DNA ; sterile ; LoBind) according to application needed.  

DELIVERABLES

 

Which data files can be retrieved from us for this specific gene panel?

Deliverable
Description
Research or diagnostic
Clinical report
Diagnostic report generated by Clinical Geneticist/ Pathologist / Hematologist
Diagnostic
 

GENELIST

FLT3
NPM1