Digital PCR assays for chronic leukemia gene variants

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Revolutionizing chronic leukemia research with precision dPCR assays

One of the biggest challenges in chronic leukemia research is the genetic and clinical heterogeneity of the disease, which complicates the identification of effective, universally applicable treatments. This variability affects the disease's progression, treatment response and patient prognosis, necessitating a personalized approach to therapy. The development of effective treatments depends on accurately identifying and understanding the gene variants involved in the disease.

Digital PCR (dPCR) technology, known for its precision and sensitivity, is essential for detecting these genetic markers and advancing leukemia research. Our extensive portfolio of dPCR LNA Mutation Assays offers unmatched accuracy, sensitivity and reproducibility, enabling precise detection and quantification of key genetic mutations. This capability is vital for driving targeted research and developing personalized treatment approaches.

Explore chronic leukemia related dPCR assays by gene

Chronic myeloid leukemia (CML) is primarily characterized by the presence of the Philadelphia chromosome, which results in the BCR-ABL fusion gene. However, CML is a heterogeneous disease, and understanding the roles of additional genetic alterations in genes such as TET2, ASXL1, RUNX1, IKZF1 and ABL1 is essential for a comprehensive understanding of its progression. These genetic insights are critical for studying disease heterogeneity, treatment resistance mechanisms and identifying potential therapeutic targets.

Our collection of assays provides a robust toolkit for advanced hematology research, facilitating precise genetic analysis and deeper insights into the complex genetic landscape of CML.

The table below includes COSMIC Variant IDs (COSV), as they provide a unique identifier for each distinct gene mutation and ensure precise reference to your variant of interest.

Gene

Mutation Type

Gene	Mutation Type	Mutation (CDS)	Mutation (AA)	COSMIC ID (COSV)	COSMIC ID (COSM)	Codon	dPCR Mutation Assay
BRAF	Substitution - Missense	c.1406G>C	p.G469A	COSV56061424	COSM460	469	DMH0000047
DNMT3A	Substitution - Missense	c.2644C>T	p.R882C	COSV53036332	COSM53042	882	DMH0000150
DNMT3A	Substitution - Missense	c.2645G>A	p.R882H	COSV53036153	COSM52944	882	DMH0000489
FLT3	Substitution - Missense	c.2503G>C	p.D835H	COSV54042636	COSM785	835	DMH0000156
FLT3	Substitution - Missense	c.2503G>T	p.D835Y	COSV54042116	COSM783	835	DMH0000152
FLT3	Substitution - Missense	c.2504A>T	p.D835V	COSV54042199	COSM784	835	DMH0000154
FLT3	Substitution - Missense	c.2505T>A	p.D835E	COSV54045054	COSM787	835	DMH0000168
FLT3	Substitution - Missense	c.2505T>G	p.D835E	COSV54044297	COSM788	835	DMH0000496
IDH1	Substitution - Missense	c.394C>A	p.R132S	COSV61615649	COSM28748	132	DMH0000066
IDH1	Substitution - Missense	c.394C>G	p.R132G	COSV61615456	COSM28749	132	DMH0000063
IDH1	Substitution - Missense	c.394_395delinsGT	p.R132V	COSV61616571	COSM28751	132	DMH0000228
IDH1	Substitution - Missense	c.395G>T	p.R132L	COSV61615420	COSM28750	132	DMH0000015
IDH2	Substitution - Missense	c.419G>A	p.R140Q	COSV57468751	COSM41590	140	DMH0000018
IDH2	Substitution - Missense	c.514A>G	p.R172G	COSV57468989	COSM33731	172	DMH0000282
IDH2	Substitution - Missense	c.514A>T	p.R172W	COSV57468942	COSM34039	172	DMH0000056
IDH2	Substitution - Missense	c.515G>A	p.R172K	COSV57468734	COSM33733	172	DMH0000064
IDH2	Substitution - Missense	c.515G>T	p.R172M	COSV57468971	COSM33732	172	DMH0000016
IDH2	Substitution - Missense	c.516G>T	p.R172S	COSV57468910	COSM34090	172	DMH0000301
JAK2	Substitution - Missense	c.1849G>T	p.V617F	COSV67569051	COSM12600	617	DMH0000021
KRAS	Substitution - Missense	c.34G>A	p.G12S	COSV55497461	COSM517	12	DMH0000519
KRAS	Substitution - Missense	c.34G>C	p.G12R	COSV55497582	COSM518	12	DMH0000284
KRAS	Substitution - Missense	c.34G>T	p.G12C	COSV55497469	COSM516	12	DMH0000309
KRAS	Substitution - Missense	c.35G>A	p.G12D	COSV55497369	COSM521	12	DMH0000286
KRAS	Substitution - Missense	c.35G>C	p.G12A	COSV55497479	COSM522	12
KRAS	Substitution - Missense	c.35G>T	p.G12V	COSV55497419	COSM520	12	DMH0000285
KRAS	Substitution - Missense	c.37G>A	p.G13S	COSV55509530	COSM528	13	DMH0000331
KRAS	Substitution - Missense	c.37G>C	p.G13R	COSV55502117	COSM529	13	DMH0000332
KRAS	Substitution - Missense	c.37G>T	p.G13C	COSV55497378	COSM527	13	DMH0000195
KRAS	Substitution - Missense	c.38G>A	p.G13D	COSV55497388	COSM532	13	DMH0000289
KRAS	Substitution - Missense	c.38G>C	p.G13A	COSV55497357	COSM533	13	DMH0000334
KRAS	Substitution - Missense	c.38G>T	p.G13V	COSV55522580	COSM534	13	DMH0000527
KRAS	Substitution - Missense	c.38_39delinsAT	p.G13D	COSV55508630	COSM531	13	DMH0000525
KRAS	Substitution - Missense	c.181C>A	p.Q61K	COSV55502066	COSM549	61	DMH0000290
KRAS	Substitution - Missense	c.181C>G	p.Q61E	COSV55502677	COSM550	61	DMH0000044
KRAS	Substitution - Missense	c.182A>C	p.Q61P	COSV55508574	COSM551	61	DMH0000022
KRAS	Substitution - Missense	c.182A>G	p.Q61R	COSV55498739	COSM552	61	DMH0000023
KRAS	Substitution - Missense	c.182A>T	p.Q61L	COSV55504296	COSM553	61	DMH0000198
KRAS	Substitution - Missense	c.183A>C	p.Q61H	COSV55498802	COSM554	61	DMH0000024
KRAS	Substitution - Missense	c.183A>T	p.Q61H	COSV55499223	COSM555	61	DMH0000025
NRAS	Substitution - Missense	c.34G>A	p.G12S	COSV54736621	COSM563	12	DMH0000188
NRAS	Substitution - Missense	c.34G>C	p.G12R	COSV54736940	COSM561	12	DMH0000336
NRAS	Substitution - Missense	c.34G>T	p.G12C	COSV54736487	COSM562	12	DMH0000186
NRAS	Substitution - Missense	c.35G>C	p.G12A	COSV54736555	COSM565	12	DMH0000339
NRAS	Substitution - Missense	c.35G>T	p.G12V	COSV54736974	COSM566	12	DMH0000340
NRAS	Substitution - Missense	c.37G>A	p.G13S	COSV54736476	COSM571	13	DMH0000510
NRAS	Substitution - Missense	c.37G>C	p.G13R	COSV54736550	COSM569	13	DMH0000341
NRAS	Substitution - Missense	c.37G>T	p.G13C	COSV54736386	COSM570	13	DMH0000342
NRAS	Substitution - Missense	c.38G>A	p.G13D	COSV54736416	COSM573	13	DMH0000343
NRAS	Substitution - Missense	c.38G>C	p.G13A	COSV54736793	COSM575	13	DMH0000345
NRAS	Substitution - Missense	c.38G>T	p.G13V	COSV54736480	COSM574	13	DMH0000344
NRAS	Substitution - Missense	c.181C>A	p.Q61K	COSV54736310	COSM580	61	DMH0000505
NRAS	Substitution - Missense	c.181C>G	p.Q61E	COSV54743343	COSM581	61	DMH0000347
NRAS	Substitution - Missense	c.182A>G	p.Q61R	COSV54736340	COSM584	61	DMH0000183
NRAS	Substitution - Missense	c.182A>T	p.Q61L	COSV54736624	COSM583	61	DMH0000190
NRAS	Substitution - Missense	c.183A>C	p.Q61H	COSV54736320	COSM586	61	DMH0000180
NRAS	Substitution - Missense	c.183A>T	p.Q61H	COSV54736991	COSM585	61	DMH0000349
TP53	Substitution - Missense	c.517G>T	p.V173L	COSV52676535	COSM43559	173	DMH0000126
TP53	Substitution - Missense	c.527G>T	p.C176F	COSV52661329	COSM10645	176	DMH0000353
TP53	Substitution - Missense	c.578A>G	p.H193R	COSV52662414	COSM10742	193	DMH0000108
TP53	Substitution - Missense	c.614A>G	p.Y205C	COSV52665440	COSM43947	205	DMH0000463
TP53	Substitution - Missense	c.641A>G	p.H214R	COSV52670202	COSM43687	214	DMH0000470
TP53	Substitution - Missense	c.659A>G	p.Y220C	COSV52661282	COSM10758	220	DMH0000440
TP53	Substitution - Missense	c.713G>T	p.C238F	COSV52706816	COSM43778	238	DMH0000131
TP53	Substitution - Missense	c.725G>T	p.C242F	COSV52677418	COSM10810	242	DMH0000471
TP53	Substitution - Missense	c.743G>T	p.R248L	COSV52675468	COSM6549	248	DMH0000381
TP53	Substitution - Missense	c.818G>A	p.R273H	COSV52660980	COSM10660	273	DMH0000094
TP53		c.818G>T	p.R273L	COSV52664805	COSM10779	273	DMH0000114
TP53		c.856G>A	p.E286K	COSV52664318	COSM10726	286	DMH0000364

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Explore the QIAcuity family of dPCR instruments, designed to meet the rigorous demands of biomarker research, translational research and clinical applications. With unmatched precision and operational efficiency, these versatile platforms can transform your scientific and diagnostic efforts.

Transform your research capabilities with QIAcuity digital PCR

QIAcuity is a fully automated digital PCR system that combines precision, efficiency and ease of use. Experience unparalleled accuracy and save resources with high-throughput multiplexing, allowing for the simultaneous detection of up to five genetic targets. A seamless transition from existing qPCR workflows ensures minimal disruption while significantly enhancing data quality and throughput.

Streamline your clinical PCR workflows with QIAcuityDx

QIAcuityDx is tailored for IVD applications. This fully automated system enhances diagnostic precision and operational efficiency by reducing hands-on time and ensuring accurate detection and quantification of important genetic variations. Easily develop your own assay menu* by using QIAcuityDx utility mode and IVD medical device consumables, reagents and software.

*FDA ‘Medical Devices; Laboratory Developed Tests’ final rule, May 6, 2024 and European Union regulation requirements on ‘In-House Assays’ (Regulation (EU) 2017/746 -IVDR- Art. 5(5))

Frequently asked questions

Discover key insights into genes and variants critical for chronic leukemia research and how they can be detected using digital PCR

dPCR LNA Mutation Assays offer significant advantages to cancer researchers working on precise and sensitive mutation detection. These assays are specifically designed for use with the QIAcuity Digital PCR System and are enhanced with Locked Nucleic Acid (LNA) technology. This enhancement greatly improves the specificity and sensitivity of mutation detection, making it possible to identify DNA sequence mutations at very low abundance, with a sensitivity as fine as 0.1% in a single nanoplate well.

The key benefits of dPCR LNA Mutation Assays for cancer researchers include:

High precision and sensitivity: The use of duplex, hydrolysis probe-based assays allows for highly precise detection of mutations. The presence of both mutant and wild-type probes in the same reaction ensures that researchers can detect and quantify minor genetic variations with great accuracy, crucial for studies in heterogeneous cancer samples where only a few cells may carry the mutation.
Enhanced specificity: The integration of LNA into the probes increases the binding affinity and specificity towards the target sequences, minimizing the risk of non-specific bindings and improving the overall reliability of the assays.
Multiplexing capability: Each assay is capable of detecting mutations using two different fluorescent dye combinations, allowing for the simultaneous analysis of mutant and wild-type alleles within the same reaction. This multiplexing ability is particularly useful in applications requiring the analysis of multiple targets, such as assessing co-occurring mutations in cancer.
Flexibility in sample analysis: By dividing the reaction across multiple wells, even greater sensitivity can be achieved, facilitating the detection of extremely rare mutations. This is especially valuable in cancer research, where detecting low-frequency mutations can inform prognosis and treatment strategies.
Streamlined workflow: Supplied in a single-tube format with ready-to-use primer pairs and probes, these assays simplify the experimental setup, enabling efficient and straightforward integration into existing research workflows.

The ATM (Ataxia Telangiectasia Mutated) gene encodes a protein kinase that plays a critical role in the DNA damage response. ATM activates various downstream proteins, including p53, to initiate DNA repair or apoptosis. Mutations in the ATM gene are common in chronic lymphocytic leukemia (CLL) and lead to genomic instability, contributing to disease progression and treatment resistance. ATM interacts with several key proteins involved in DNA repair, such as BRCA1 and RAD50, coordinating the cellular response to DNA damage. Identifying ATM mutations helps in understanding the molecular mechanisms of CLL and developing personalized therapeutic strategies. Some important ATM gene variants are listed below:

ATM c.7271T>G / p.V2424G: A DNA point mutation from thymine (T) to guanine (G) at nucleotide position 7271 (c.7271T>G) results in the substitution of valine (V) with glycine (G) at position 2424 of the ATM protein (p.V2424G). This mutation affects the kinase domain of ATM, impairing its ability to respond to DNA damage. The loss of ATM function due to this mutation is associated with genomic instability and progression of chronic lymphocytic leukemia (CLL).
ATM c.6095G>A / p.R2032H: A DNA point mutation from guanine (G) to adenine (A) at nucleotide position 6095 (c.6095G>A) results in the substitution of arginine (R) with histidine (H) at position 2032 of the ATM protein (p.R2032H). This mutation impairs ATM's kinase activity, leading to defective DNA repair mechanisms and contributing to the development of CLL.
ATM c.6161T>C / p.L2054P: A DNA point mutation from thymine (T) to cytosine (C) at nucleotide position 6161 (c.6161T>C) results in the substitution of leucine (L) with proline (P) at position 2054 of the ATM protein (p.L2054P). This mutation disrupts the structural integrity of the ATM protein, compromising its function in DNA damage response and contributing to CLL pathogenesis.

The BCR-ABL gene is created by a translocation between chromosomes 9 and 22. This change produces the Philadelphia chromosome, a hallmark of chronic myeloid leukemia (CML). This fusion gene encodes a constitutively active tyrosine kinase that drives cell proliferation and survival, characteristic of CML. The continuous activation of signaling pathways by BCR-ABL promotes uncontrolled cell growth and resistance to apoptosis. BCR-ABL activates multiple downstream signaling pathways, including the RAS/MAPK, PI3K/AKT and JAK/STAT pathways, which contribute to cell proliferation, survival and differentiation. Targeted therapies, such as tyrosine kinase inhibitors (TKIs), have been developed to inhibit the BCR-ABL kinase, significantly improving outcomes for CML patients.

BCR-ABL1 (p210): The BCR-ABL1 fusion gene creates a constitutively active tyrosine kinase due to the translocation between chromosomes 9 and 22. This fusion protein promotes continuous signaling for cell growth and survival, a hallmark of chronic myeloid leukemia (CML). Targeting BCR-ABL1 with tyrosine kinase inhibitors (TKIs) has transformed the treatment landscape of CML, leading to significant improvements in patient outcomes.
BCR-ABL1 c.944T>C / p.F317L: A DNA point mutation from thymine (T) to cytosine (C) at nucleotide position 944 (c.944T>C) results in the substitution of phenylalanine (F) with leucine (L) at position 317 of the BCR-ABL1 protein (p.F317L). This mutation is associated with resistance to certain tyrosine kinase inhibitors (TKIs), complicating treatment strategies for chronic myeloid leukemia (CML).
BCR-ABL1 c.922A>C / p.T315I: A DNA point mutation from adenine (A) to cytosine (C) at nucleotide position 922 (c.922A>C) results in the substitution of threonine (T) with isoleucine (I) at position 315 of the BCR-ABL1 protein (p.T315I). This mutation causes resistance to multiple TKIs and is known as the "gatekeeper" mutation, posing significant challenges in the treatment of CML.

NOTCH1 is a gene that encodes a transmembrane receptor involved in cell differentiation, proliferation and apoptosis. Mutations in NOTCH1 are frequently observed in chronic lymphocytic leukemia (CLL) and are associated with aggressive disease and poor prognosis. These mutations lead to constitutive activation of the NOTCH1 signaling pathway, promoting uncontrolled cell growth and survival. NOTCH1 signaling interacts with other pathways, such as NF-κB and PI3K/AKT, to regulate cell fate decisions. Targeting the NOTCH1 pathway is a potential therapeutic approach in CLL. Some notable NOTCH1 variants include the following:

NOTCH1 c.7544_7545delCT / p.P2515fs: A deletion of cytosine (C) and thymine (T) at nucleotide positions 7544 and 7545 (c.7544_7545delCT) results in a frameshift mutation, leading to a premature stop codon in the NOTCH1 protein (p.P2515fs). This mutation leads to the constitutive activation of the NOTCH1 signaling pathway, promoting the proliferation and survival of leukemia cells in chronic lymphocytic leukemia (CLL).
NOTCH1 c.6788G>T / p.V2273F: A DNA point mutation from guanine (G) to thymine (T) at nucleotide position 6788 (c.6788G>T) results in the substitution of valine (V) with phenylalanine (F) at position 2273 of the NOTCH1 protein (p.V2273F). This mutation leads to gain-of-function in the NOTCH1 receptor, promoting leukemogenesis in CLL.
NOTCH1 c.6798C>A / p.A2276D: A DNA point mutation from cytosine (C) to adenine (A) at nucleotide position 6798 (c.6798C>A) results in the substitution of alanine (A) with aspartic acid (D) at position 2276 of the NOTCH1 protein (p.A2276D). This mutation causes constitutive activation of NOTCH1, contributing to the aggressive behavior of CLL cells.

SF3B1 (Splicing Factor 3b Subunit 1) is a gene that encodes a core component of the spliceosome, the complex responsible for the precise removal of introns from pre-mRNA. Mutations in SF3B1 are frequently observed in chronic lymphocytic leukemia (CLL) and are associated with distinct clinical features and prognosis. These mutations disrupt normal splicing, leading to the production of aberrant mRNA and proteins that contribute to leukemogenesis. SF3B1 interacts with other splicing factors to ensure accurate splicing, and its mutations can alter the expression and function of numerous genes involved in cell cycle regulation, apoptosis and DNA repair. Understanding SF3B1 mutations is essential for developing targeted therapies and improving treatment outcomes in CLL. Some important SF3B1 variants include the following:

SF3B1 c.2098A>G / p.K700E: A DNA point mutation from adenine (A) to guanine (G) at nucleotide position 2098 (c.2098A>G) results in the substitution of lysine (K) with glutamic acid (E) at position 700 of the SF3B1 protein (p.K700E). This mutation affects the HEAT repeat domains of SF3B1, disrupting normal splicing activity and leading to the dysregulation of multiple genes, contributing to CLL pathogenesis.
SF3B1 c.2101A>G / p.K700Q: A DNA point mutation from adenine (A) to guanine (G) at nucleotide position 2101 (c.2101A>G) results in the substitution of lysine (K) with glutamine (Q) at position 700 of the SF3B1 protein (p.K700Q). Similar to the K700E mutation, this variant disrupts the function of the spliceosome, leading to aberrant mRNA splicing and the promotion of leukemic cell growth in CLL.
SF3B1 c.1793G>T / p.R625L: A DNA point mutation from guanine (G) to thymine (T) at nucleotide position 1793 (c.1793G>T) results in the substitution of arginine (R) with leucine (L) at position 625 of the SF3B1 protein (p.R625L). This mutation alters the spliceosome's ability to accurately process pre-mRNA, resulting in the production of defective proteins that drive CLL progression.

TP53 (Tumor Protein p53) is a crucial tumor suppressor gene involved in regulating the cell cycle, DNA repair and apoptosis. Mutations in TP53 are associated with more aggressive forms of chronic lymphocytic leukemia (CLL) and poor prognosis. Loss of p53 function due to mutations allows cells with damaged DNA to proliferate, contributing to tumor development and progression. TP53 interacts with various proteins, including MDM2, which regulates p53 levels, and ATM, which activates p53 in response to DNA damage. Understanding TP53 mutations is essential for developing targeted therapies and improving treatment outcomes in CLL. Some relevant TP53 variants include the following:

TP53 c.375G>A / p.R125Q: A DNA point mutation from guanine (G) to adenine (A) at nucleotide position 375 (c.375G>A) results in the substitution of arginine (R) with glutamine (Q) at position 125 of the TP53 protein (p.R125Q). This mutation disrupts the DNA-binding domain of p53, impairing its tumor suppressor function. Loss of p53 function due to this mutation contributes to the aggressive nature and treatment resistance of chronic lymphocytic leukemia (CLL).
TP53 c.817C>T / p.R273C: A DNA point mutation from cytosine (C) to thymine (T) at nucleotide position 817 (c.817C>T) results in the substitution of arginine (R) with cysteine (C) at position 273 of the TP53 protein (p.R273C). This mutation affects the DNA-binding domain, leading to loss of p53 function and promoting unchecked cellular proliferation in CLL.
TP53 c.742C>T / p.R248W: A DNA point mutation from cytosine (C) to thymine (T) at nucleotide position 742 (c.742C>T) results in the substitution of arginine (R) with tryptophan (W) at position 248 of the TP53 protein (p.R248W). This mutation disrupts the DNA-binding capability of p53, leading to loss of tumor suppressor activity and contributing to CLL progression.

Disclaimers

dPCR LNA Mutation Assays are intended for molecular biology applications. These products are not intended for the diagnosis, prevention, or treatment of a disease.

The QIAcuity is intended for molecular biology applications. This product is not intended for the diagnosis, prevention or treatment of a disease. Therefore, the performance characteristics of the product for clinical use (i.e., diagnostic, prognostic, therapeutic or blood banking) is unknown.

The QIAcuityDx dPCR System is intended for in vitro diagnostic use, using automated multiplex quantification dPCR technology, for the purpose of providing diagnostic information concerning pathological states.

QIAcuity and QIAcuityDx dPCR instruments are sold under license from Bio-Rad Laboratories, Inc. and exclude rights for use with pediatric applications. The QIAcuityDx medical device is currently under development and will be available in 20 countries in H2 2024.

Digital PCR assays for chronic leukemia gene variants

Revolutionizing chronic leukemia research with precision dPCR assays

Explore chronic leukemia related dPCR assays by gene

Discover the QIAcuity family of dPCR instruments

Transform your research capabilities with QIAcuity digital PCR

Streamline your clinical PCR workflows with QIAcuityDx

Frequently asked questions

How do dPCR LNA Mutation Assays benefit cancer researchers?

What is the significance of the ATM gene in chronic leukemia?

What is BCR-ABL and what is its relevance to chronic leukemia?

How do NOTCH1 mutations affect chronic leukemia?

How does the SF3B1 gene impact chronic leukemia?

How does the TP53 gene impact chronic leukemia?

Disclaimers