Qualitative PCR Detection of AML Diagnostic and Prognostic Markers

The TRUPCR® AML Panel Kit is a dual-technology (Real-Time and Conventional PCR) in vitro diagnostic test developed for the qualitative detection of gene fusions and mutations critical to AML pathogenesis. The panel includes reagents for both RNA (fusion transcript) and DNA (mutation) analysis, with cDNA synthesis components included for RNA-based targets.

This all-in-one system detects the most common mutations and fusions associated with AML and enables labs to evaluate both Class I and Class II genetic alterations involved in disease onset and progression.

Molecular Background

Acute Myeloid Leukemia (AML) is a genetically and phenotypically heterogeneous group of hematological malignancies arising from clonal expansion of myeloid progenitor cells with impaired differentiation. AML accounts for 15–20% of acute leukemia in children and ~80% in adults.

Genetically, AML is driven by a variety of chromosomal translocations and gene mutations. These events are traditionally categorized using the Gilliland Two-Hit Model:

• Class I mutations: Promote uncontrolled cell proliferation and survival (e.g., FLT3, c-KIT, JAK2).
• Class II mutations: Impair differentiation and apoptosis (e.g., PML-RARA, AML1-ETO, CBFB-MYH11, NPM1).

Recent genomic studies have also identified a third group involving epigenetic regulators (DNMT3a, IDH1/2, TET2, WT1), which do not neatly fall into the two-hit framework but contribute significantly to AML pathogenesis.

Assay Performance & Utility

The TRUPCR® AML Panel Kit combines high sensitivity and comprehensive target coverage in a user-friendly format:

• Fusion Transcript Detection: Sensitivity up to 10 copies for PML-RARA, AML1-ETO, CBFB-MYH11, BCR-ABL1
• Mutation Analysis: Detects 1% mutant allele in a wild-type background for FLT3-ITD, D835, NPM1, and c-KIT
• Enables dual analysis from both DNA and RNA templates
• Facilitates accurate diagnosis, prognosis, and MRD monitoring
• Supports class I, class II, and emerging epigenetic mutation profiling

Technical Specifications

• Assay Type: Qualitative Real-Time PCR + Conventional PCR
• Targets Fusion: transcripts & gene mutations (see full marker list below)
• Fusion Targets: AML1-ETO, CBFB-MYH11, PML-RARA, BCR-ABL1
• Mutation Targets: FLT3 (ITD, D835), NPM1 (Type A, B), c-KIT (D816V)
• RNA Control Gene: ABL1
• Sensitivity: 10 copies (fusion), 1% (mutations)
• Sample Type: Peripheral blood (DNA + RNA)
• Input Material: DNA and cDNA (reverse transcription included)
• Compatible Instruments: ABI 7500, QuantStudio 3/5, Bio-Rad CFX, Rotor-Gene Q, AriaMx, etc.