Many hematologic malignancies carry characteristic chromosomal translocations. Correct identification of fusion genes can ensure an accurate diagnosis and prognosis is made and can assist in making treatment decisions, stratification, and disease monitoring. Current methodologies used to detect fusion genes can be laborious and time-consuming, typically involving karyotyping, followed by fluorescence-in situ hybridization (FISH) and molecular analysis based on reverse transcriptase polymerase chain reaction (RT-PCR).
QuanDx’s novel Leukemia Fusion Gene (Q30) Screening Kit reduces the time, complexity, and costs associated with fusion gene detection for CML, AML, and ALL, yielding rapid results at a fraction of the cost of FISH.
Leukemia Fusion Genes (Q30) Screening kit is a CE marked product, and for In Vitro Diagnostic Use.
Leukemia Fusion Genes (Q30) Screening kit is not FDA cleared.
Fusion genes | MLL-AF9, MLL-AF4, MLL-MLLT1, MLL-MLLT10, PML-RARA, TEL-AML1, BCR-ABL1, CBFB-MYH11, AML1-ETO, E2A-PBX1, STIL-TAL1, AML1-EVI1, FIP1L1-PDGFRA, MLL-SEPT6, MLL-AF17, MLL-AF1P, DEK-NUP214, MLL-ELL, MLL-MLLT11, MLL-MLLT4, SET-NUP214, TLS-ERG, NPM1-RARA, TEL-ABL1, E2A-HLF, TEL-PDGFRB, ZBTB16-RARA, AML1-EAP, NPM1-MLF1, AML1-CBFA2T3 |
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Sample types | Bone marrow, peripheral blood, FFPE, and cell lines |
Reaction Volume | 25 ul |
Reaction time | 2-3 hour |
Internal control | GUSB as housekeeping genes, 2 positive control, 3 negative control |
Sensitivity | 10-4 |
Instruments | Compatible with Bio-Rad CFX96, iCycler, ABI7500, Stratagene Mx3000P/Mx3005P, and other commonly used RT-qPCR machines. |
Fusion Genes | No. of Breaks | Target Disease | Chromosome Alteration | Description |
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MLL-AF9 | 16 | AML | t(9;11)(p22;q23) | MLL-AF9 is the most frequent MLL rearrangement in childhood acute myeloid leukemia (AML) and it may be also found in acute lymphoblastic leukemia (ALL) of patients younger than 1-year-old (infants).1,2,3,4,5,6 |
PML-RARA | 3 | APL | t(15;17)(q22;q22) | The PML–RARA fusion protein is found in approximately 97% of patients with acute promyelocytic leukemia (APL). Diagnosis of APL is based on the detection of t(15;17). Depending on the location of breakpoints within the PML site, intron 6, exon 6 and intron 3, the respective PML-RARa transcript subtypes referred to as long (L or bcr1), variant (V or bcr2) and short (S or bcr3), may be formed.7,8,9,10 |
AML-ETO | 1 | AML | t(8;21)(q22;q22) | The AML1-ETO rearrangement t(8;21)(q22;q22) has been reported in acute myeloid leukemia (AML) subtype M2. Synonyms for AML1 (acute myeloid leukemia 1 gene) are PEBP2a (polyoma enhancer binding protein 2 subunit a) or CBFA2 (core binding factor subunit A2) and for ETO (eight twenty one) CDR (cyclin D-related gene) or MTG8 (myeloid translocation gene on chromosome 8). The breakpoints of AML1 are located between exon 5 and 6 and upstream of exon 2 regarding ETO.11 |
MLL-AF4 | 10 | ALL | t(4;11)(q21;q23) | The t(4;11)(q21;q23) involving the genes MLL and AF4 (alias for AFF1) is detected in 50–70% of infant leukemia. The MLL status of acute leukemia, including precise identification of the partner gene, is used in clinincal research studies to enable investigations that may provide information relating to therapy decisions.12,13 |
TEL-AML1 | 4 | ALL | t(12;21)(p13;q22) | TEL gene rearrangement due to the 12;21 chromosome translocation is believed to be the most common molecular genetic abnormality in childhood acute lymphoblastic leukemia (ALL).14,15 |
E2A-PBX1 | 2 | ALL | t(1;19)(q23;p13) | The t(1;19) translocation yields a fusion between E2A and PBX1 genes and occurs in 5% of acute lymphoblastic leukemia in children and adults.16,17,18,19 |
MLL-ENL | 8 | ALL | t(11;19)(q23;p13) | The translocation t(11;19) is a recurrent feature of a subgroup of acute leukemiasoccurring in infants. This event fuses the genes MLL and ENL and creates the leukemogenic oncoprotein MLL-ENL.20,21 |
BCR-ABL1 | 8 | CML/ALL | t(9;22)(q34;q11) | Philadelphia chromosome is a specific chromosomal abnormality that is associated with chronic myelogenousleukemia (CML). It is the result of a reciprocal translocation between chromosome 9 and 22, and is specifically designated t(9;22)(q34;q11). Three BCR-ABL transcripts have been found and are designated p210, p190 and p230.23-34 |
SIL-TAL1 | 2 | T-ALL | del(1)(p32) | SIL-TAL1 fusion gene and the ectopic expression of HOX11L2 are common molecular abnormalities in T-cell acute lymphoblastic leukemia (T-ALL). 35,36 |
MLL-AF10 | 18 | ALL/AML | t(10;11)(p12;q23) | Translocations involving the MLL gene on chromosome 11q23 occur in 5-10% of human leukemias, and involve fusion with more than 30 different partner genes. The MLL-AF10 fusion produced by the t(10;11)(p12;q23) or ins(10;11)(p12;q23q13) occurs in a small percentage of acute leukemias, most commonly acute myelogenous leukemia (AML) of the M5 FAB subtype.37,38,39 |
CBF-MYH11 | 10 | AML | t(16;16)(p13;q22) | Pericentric inversion of chromosome 16, translocation (16;16) and del(16q), resulting in a chimerical fusion of CBF and MYH11 genes, are typically seen in the M4Eo FrenchAmerican-British (FAB) classification subset of acute myelogenous leukemia (AML).40,41,42 |
AML1-MDS1/EV11 | 2 | CML | t(3;21)(q26;q22) | The (3;21)(q26;q22) translocation associated with treatmentrelated myelodysplastic syndrome, treatment-related acute myeloid leukemia, and blast crisis of chronic myeloid leukemia results in the expression of the chimeric genes AML1/EAP, AML1/MDS1, and AML1/EVI1. AML1 (CBFA2), which codes for the alpha subunit of the heterodimeric transcription factor CBF, is also involved in the t(8;21), and the gene coding for the beta subunit (CBFB) is involved in the inv(16). These are two of the most common recurring chromosomal rearrangements in acute myeloid leukemia.43,44,45 |
FIP1L1-PDGFRA | 4 | CEL | del(4)(q12) | (FIP1L1-PDGFRA), which results in a constitutively activated platelet-derived growth factor receptor-alpha (PDGFRA), has been invariably associated with a primary eosinophilic disorder.46-49 |
SET-CAN | 1 | AUL/AML/ALL | del(9)(q34) | SET-CAN is the product of the t(9;9) in Acute Undifferentiated Leukemia.50,51,52 |
E2A-HLF | 2 | ALL | t(17;19)(q23;p13) | The chimeric transcription factor E2a-Hlf is an oncoprotein associated with a subset of acute lymphoblastic leukemias of early B-lineage derivation.53-56 |
DEK-CAN | 1 | AML | t(6;9)(p23;q34) | The t(6;9) associated DEK/CAN fusion protein targets a population of long-term repopulating hematopoietic stem cells for leukemogenic transformation.57-60 |
MLL-SEPT6 | 5 | MLL | t(X;11)q24;q23) | SEPT6 is ubiquitously expressed in tissues and one of the fusion partner genes of MLL in the 11q23 translocations implicated in acute leukemia.61,62,63 |
TLS-ERG | 6 | AML/ALL/CML | t(16;21)(p11;q22) | TLS-ERG fusion protein is derived from the t(16;21) translocation found in human myeloid leukemia.64-68 |
TEL-PDGFRB | 3 | CEL | t(5;12)(q33;p13) | Constitutive activation of platelet-derived growth factor receptor (PDGFR) is one of the features of myeloproliferative disease (MPD). PDGFR is a member of type III receptor tyrosine kinase that transmits mitotic signals in cells of mesenchymal origin. Both PDGFRA and PDGFRB genes, located on chromosomes 4q12 and 5q33 respectively, form fusion gene as a result of chromosome translocation. Representative examples are TEL-PDGFRB in t(5;12)(q33;p13) 4 and FIP1L1-PDGFRA in del(4)(q12),both of the gene products known to have ligand-independent kinase activity. The former is observed in chronic myelomonocytic leukaemia (CMMoL) as well as other MPDs with eosinophilia, whereas the latter has been reported in hypereosinophilic syndrome (HES).69,70,71 |
MLL-ELL | 6 | ALL | t(11;19)(q23;p13) | The (11;19)(q23;p13.1) translocation in acute leukemia results in the formation of a chimeric MLL-ELL fusion protein.72,73 |
MLL-AF17 | 18 | AML | t(11;17)(q23;p13 | The development of acute leukemias is associated with MLL gene alterations in about 10% of all leukemia cases of ALL and AML.74,75 |
NPM-RARA | 1 | APL | t(5;17)(q32;q21) | The t(5;17) variant of acute promyelocytic leukemia expresses a nucleophosmin-retinoic acid receptor fusion.76,77 |
NPM-MLF1 | 1 | AML | t(3;5)(q25;q35) | The t(3;5)(q25.1;q34) of myelodysplastic syndrome and acute myeloid leukemia produces a novel fusion gene, NPM-MLF1.78 |
PLZF-RARA | 2 | APL | t(11;17)(q23;q21) | Acute promyelocytic leukemia (APL) is typified by the t(15;17) translocation, which leads to the formation of thePML/RARA fusion gene and predicts a beneficial response to retinoids. However, approximately 10% of all APL cases lack the classic t(15;17). This group includes (1) cases with cryptic PML/RARA gene rearrangements and t(5;17) that leads to the NPM/RARA fusion gene, which are retinoid-responsive, and (2) cases with t(11;17)(q23;q21) that are associated with the PLZF/RARA fusion gene, which are retinoid-resistant.79,80,81 |
MLL-AF1q | 4 | ALL | t(1;11)(q21;q23) | MLL-AF1q fusion resulting from t(1;11) in acute leukemia.82 |
MLL-AF1P | 8 | AML | t(1;11)(p32;q23) | The t(1;11) (MLL-EPS15=MLL-AF1p) translocation is rare with a small number of clinical cases published and three reports of molecular characterization at the transcriptional level. MLL-AF1p AMLs exhibit a more myeloproliferative phenotype than do the other MLL subtypes.83,84 |
TEL-ABL | 2 | AML/ALL/CML | t(9;12)(q34;p13) | ETV6 A gene on 12p13 that encodes a transcription factor required for haematopoiesis and for maintaining developing vasculature. ETV6 is involved in an array of chromosomal rearrangements linked to leukaemia and congenital fibrosarcoma.85,86 |
AML1-MTG16 | 2 | AML | t(16;21)(q24;q22) | AML1/MTG16 fusion gene from a t(16;21)(q24;q22) translocation in treatment-induced leukemia after breast cancer.87,88 |
AML-EAP | 1 | AML | t(3;21)(q26,q22) | The chimeric genes AML1/MDS1 and AML1/EAP inhibit AML1B activation at the CSF1R promoter, but only AML1/MDS1 has tumor-promoter properties.89 |
MLL-AF6 | 4 | AML/ALL | t(6;11)(q27;q23) | The t(6;11)(q27;q23) is a recurrent chromosomal rearrangement that encodes the MLLAF6 fusion oncoprotein and is observed in patients with diverse hematologic malignancies. The presence of the t(6;11)(q27;q23) has been linked to poor overall survival in patients with AML.90 |
Cat. No. | Description | Size |
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1-100-10020 | Leukemia Fusion Genes (Q30) Screening Kit |
20-reactions |
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