Oncohaematology
Oncohaematology
P. Zafiropoulos S.A. in collaboration Dia-Chem S.R.L. offers high specificity, sensitivity full panel systems, easy to perform for the diagnosis of oncohaematological diseases.
Oncohaematological pathologies can use efficient tools for the diagnosis and monitoring with the advent of techniques for diagnosis biomolecular, based on technique of Polymerase Chain Reaction (PCR), for the analysis of monoclonality, rearrangements, crhomosomic translocations and for early and differential diagnosis, in addition to the evaluation of minimal residual disease (MRD).
The Kit Ampli Set Lymphoma B (VDJ) is used to identify, with PCR, the rearrangement of heavy chain (IgH). The primers used are: Fr1A, Fr2A and Fr3A, homologous to the conserved sequences of the regions “framework II-III”, and the region”joining” (JH) of LJH and VLJH.
The Kit Ampli set Lymphoma T-cell receptor Y allows you to identify, through the use of PCR, the gene rearrangements of the T cell receptor (TCRγ) in normal and neoplastic lymphocytes. The primers used are: TCRγ V2-V3-V4-V8 V5–V9-V10-V11-V12, homologous to each segment TCRγ V and JGT1-2-3-4 homologous segments “joining (J).”
The kit Ampli set Lynphoma TCRβ receptor allows the identification using three PCR mix rearrangements: A (Vβ-Jβ), B(Vβ-Jβ) C (Dβ-Jβ). Molecular analysis of genes TCR β is an important indicator of the clonality in suspected proliferation cells T Lymphoma.
The kit Ampli set Lymphoma cells allows the analysis of the chromosomal translocation t(14;18) present in 85% of patients with follicular lymphoma and in 30% of patients with non-Hodgkin lymphoma spread (NHL). In this translocation the BCL2 proto-oncogene on chromosome 18 is translocated in the region of the genes of the immunoglobulin heavy chain (IgH) on chromosome 14, creating a hybrid gene product BCL2/IgH. The region of major break-point (MBR) is located in the 3’untranslated (3’UTR), and the minor break-point region (mcr) is located 20 kb downstream.
The Kit Ampli set Mant. Lymph. t(11;14)(Q13;Q32) enables you to diagnose mantle cell lymphoma (MCL), which represents 6% of non-Hodgkin’s lymphomas. Genetic alterations associated with the disease are constituted by translocation t(11;14)(q13;q32) in which the rearrangement of genomic DNA involves the BCL1 region on chromosome 11 encoding for the cyclin D1 and the gene for immunoglobulins IgH on cromosoma1.
The kit Ampli set BCR/ABL p190 and p210 t(9-22) allows the analysis of the Philadelphia chromosome (Ph), described in the cells of chronic myelogenous leukemia (CML), is also found in about 2-10 % of acute lymphoblastic leukemia (ALL) in childhood and in 20-50% of adults, with an incidence that increases progressively with age. The Philadelphia chromosome is an aberrant chromosome 22 formed as a result of a translocation 9:22. Translocation Ph always produces the conjunction of the sequence 3 In the CML fusion transcripts coding for a protein of 210 kD BCR-ABL, called p210BCR / ABL. About 40% of ALL with Ph + show the same rearrangement seen in CML; the remaining 60% of Ph + ALL wiill show a protein of 190 kD, called p190BCR/ABL. The Analysis by Reverse Transcription-PCR (RT-PCR) of the fusion genes is based on the design of primers to opposite sides of the regions of fusion.
The kit Ampli set PML-RARa identifies the translocation t(15;17) associated with acute promyelocytic leukemia (APL). The two genes are involved in the translocation PML, coding for a putative new transcription factor, on chromosome 15, and the gene of the retinoic acid receptor α (RARa) on chromosome 17. The breakpoints on chromosome 17 are located in a DNA fragment of 15 kb in intron 2 of the RARa gene. In contrast, three regions of the PML locus are involved in translocations: intron 6 (bcr1; 55% of cases), exon 6 (bcr2; 5% of cases) and intron 3 (bcr3; 40% of cases). Chimeric PML-RARa and PMLRARa are formed as a result of reciprocal translocation between the PML and RARa loci.
The Kit Ampli set FTL3 ITD allows ITD mutation detection (ITD Internal Tandem Duplication) within the domain of the gene FTL3, member tyrosyne receptor kinase class III. It consists of a gene duplication whose range is between 21 and 174 bp. Diagnosis by PCR of ITD allows you to proceed with patient treatment with specific inhibitors of receptor tyrosine kinase.
The Kit Ampli Set FTL3 D835-Mt allows the identification of the mutation D835-Mt, which consists of a nucleotide substitution such that the amino acid encoded is no longer aspartic acid (D), but more frequently a tyrosine residue or D835Y a residue of valine D835V. Rarely the mutation is D835H, D835E or D835N. The mutation involves the loss of a restriction site
for the enzyme Eco RV. The mutation is detected by PCR with specific oligonucleotides and subsequent enzymatic digestion.
The kit Ampli set JAK2 V617F allows to identify, through the use of allele-specific PCR (ARMS-PCR Amplification Refractory Mutation System-PCR), the wild-type allele (normal) and mutated. In particular, we obtain an amplified 229 bp for the normal allele and one of 279 bp for the mutant. The V617F mutation, is due to a nucleotide substitution G> T at nucleotide 1849 of exon 14, which causes the substitution of valine with phenylalanine at codon 617 (GTC> TTC). This mutation involves a portion of the domain of JAK2 pseudokinasic JH2, crucial in controlling the activity of inhibitory JH1. It is an acquired somatic mutation, present only in myeloid cells (erythroid, granulocyte-macrophage line, platelet lineage) heterozygous or homozygous state. The mutation is defined as “gain-of-function mutation” as it results in a constitutive activation of the JAKSTAT which is able to confer proliferative advantage and cytokine-independent growth of hematopoietic cells.
The Kit Ampli set AML1ETO t(8:21) allows identification of the translocation t (8:21) associated with acute myeloid leukemia (AML), which account for 10% of pediatric acute leukemias. Are often associated with more aberrations of the karyotype, such as the loss of the Y sex chromosome in males and of X inactivation in females. Following the translocation
t(8:22) creating a fusion protein consisting of AML1 and ETO co-repressor that represses transcription and immortalizes hematopoietic progenitor cells.
| Code | Description |
| 1.400 | Ampli set Lymphoma B ( VDJ) Identification of clonal IgH rearrangements Fr1, Fr2, Fr3 kit complying with Biomed II guidelines |
| 1.400d4 | Ampli set Lymphoma B ( VDJ) Identification of clonal IgH rearrangements Fr1, Fr2, Fr3 |
| 1.400HS | Ampli set Lymphoma B HS ( VDJ) Identification of clonal IgH rearrangements , Fr2, Fr3 High sensibility Nested PCR |
| 1.400fam | Ampli set Lymphoma B (VDJ) Identification of clonal IgH rearrangements detection on capillary electrophoresis DNA instrument by fragment analysis Fr1,Fr2 |
| 1.401 | Ampli set Lymphoma T-cell receptor Y Identification of clonal TCR gamma rearrangements TCR V2,3,4,8,9. TCR V5 10,11,12. |
| 1.401d4 | Ampli set Lymphoma T-cell receptor Y Identification of clonal TCR gamma rearrangements TCR V2,3,4,8,9. TCR V5 10,11,12. |
| 1.401fam | Ampli set Lymphoma T-cell receptor Υ Identification of clonal TCR gamma rearrangements TCR detection on capillary electrophoresis |
| 1.402 | Ampli set PML-RARa bcr 1, bcr 2 and bcr3 Identification of t(15;17) translocation in acute promyelocitic leukemia (APL) (bcr 1, bcr 2 and bcr3) – kit complying with Biomed II guidelines |
| 1.403 | Ampli set BCR-ABL Identification of t(9;22) translocation (P210 and p190 transcripts) in chronic myeloid leukemia (CML) and acute lymphoblastic leukemia (ALL) kit complying with Biomed II guidelines |
| 1.404 | Ampli set Lymphoma cells Identification of the Bcl2/JH t(14;18) (q32;q21)translocation in follicolar lymphomas and diffuse large cell lymphomas kit complying with Biomed II guidelines |
| 1.404HS | Ampli set Lymphoma cells Identification of the Bcl2/JH t(14;18) (q32;q21)translocation in follicolar lymphomas and diffuse large cell lymphomas. High sensibility |
| 1.405 | Ampli set MLL-AF4 Identification of the MLL-AF4 t(4;11)(q21;23) translocation in acute lymphoblastic leukemia (ALL) |
| 1.406 | Ampli set FTL3 ITD Identification ITD (Internal Tandem Duplication) of FTL3 gene |
| 1.407 | Ampli set FTL3 D835 Identification D835-Mt of FTL3 gene |
| 1.408 | Ampli set Mant. Lymph. t(11;14)(Q13;Q32) Identification of the Bcl1/JH t(11;14)(Q13;32) gene translocations in mantle cells lymphomas |
| 1.427 | Ampli set JAK2 Identification of V617F mutation of Janus Kinase-2 gene |
| 1.433 | Ampli set AML1ETO Identification of t(8:21) AML1-ETO traslocation |
| 1.400.1 | Ampli set Lymphoma NPM-ALK t(11,18) Identification of t(11;18) API2/MLT traslocation |
| 1.400.2 | Ampli set Anaplastic lymphoma t(2-5) Identification of t(2;5) NPM/ALK traslocation |
| 1.400.3 | Ampli set TCRβ receptor Identification of TCRβ A,B,C riarrangiaments clonality in limphoma T kit complying with Biomed II guidelines |
| ONCOHEMATOLOGY (MRD) in REAL TIME PCR | |
| 1.001 | Quant BCR-ABL p190 Identification and quantification of p190 fusion gene transcripts |
| 1.002 | Quant BCR-ABL p210 Identification and quantification of p210 fusion gene transcripts |
| 1.003 | Quant PML-RARa bcr1 Identification and quantification of bcr1 PML-RARa fusion gene transcripts |
| 1.004 | Quant PML-RARa bcr2 Identification and quantification of bcr2 PML-RARa fusion gene transcripts |
| 1.005 | Quant PML-RARa bcr3 Identification and quantification of bcr3 PML-RARa fusion gene transcripts |
| 1.006 | Quant BCL 2 IgH™ t(14-18) Quantification of Bcl-2/IgH positive cells |
| 1.007 | Quant BCL 1 IgH™ t(11-14) Quantification of Bcl-1/IgH positive cells |
| 1.008 | Quant MYCN Genomic amplification for diagnosis and monitoring of oncogene MYCN in neuroblastoma |
| 1.009 | Ampli set CALR Identification of polymorphisms in CALR gene (Type 1, 52bp del e Type 2, 5 bp ins) |
| 1.010 | Ampli set MPL MPL Proto-Oncogene Thrombopoietin Receptor |