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INTRODUCTION:Rearrangements of the ALK gene (also known as CD246 or NBLST3), initially discovered in anaplastic large cell lymphoma, have also been found in many types of malignant tumors, including B and T-cell lymphomas, plasmacytomas, neuroblastomas, esophageal, breast, kidney, colon, thyroid and lungcarcinomas, among others.A significant percentage of cases of non-small cell lung cancer (3-13%) show abnormalities of the ALK gene and are likely to targeted treatments withspecific tyrosine kinases inhibitors that show significant benefits as compared to conventional chemotherapy.
INTENDED USE: The ALK Break Apart FISH probe is designed to detect rearrangements in the ALK human gene located in the band of the chromosome 2p23.2. Aside from detecting breaks that can lead to translocation of parts of the gene, to its inversion or to its fusion with other genes, the probe can also be used to identify other aberrations of ALK such as deletions or amplifications.

PROBE DESCRIPTION:The 5’ centromeric fragment of the ALK Break Apart FISH probe labeled with the fluorochrome CytoGreen covers the 5’ and central sequences of the ALK gene. The 3’ telomeric fragment of the ALK Break apart FISH probe labeled with CytoOrange covers the 3’ end and the contiguous neighboring region. Both probes are designed to detect sequences in both sides in a mutual cut-off point that is located within the ALK gene.

INTRODUCTION:

Rearrangements and abnormal expression of the ROS1 gene (also known as ROS, MCF3 or c-ros-1) have been described in approximately 1-2% of non-small cell lung carcinomas and other types of tumors. The detection of the ROS1 rearrangement in lung tumors allows applying a treatment with specific inhibitors in patients, which has shown a greater survival as compared to conventional chemotherapy.

INTENDED USE:

The ROS1 Break Apart FISH probe is designed to detect rearrangements in the ROS1 human gene located in the band of the chromosome 6q22.1. Aside from detecting breaks that can lead to translocation of parts of the gene, to its inversion or to its fusion with other genes, the probe can also be used to identify other aberrations of ROS1 such as deletions or amplifications.

PROBE DESCRIPTION:

The 5’ telomeric fragment of the ROS1 Break Apart FISH probe labeled with the fluorochrome CytoGreen covers the 5’ portion (beginning) of the ROS1 gene and some adjacent genomic sequences. The 3’ centromeric fragment of the ROS1 Break apart FISH probe labeled with CytoOrange covers the 3’ part (end) and the adjacent and inferior sequences of the gene.Both probes are flanking sequences in the ROS1 gene, in which variable cut-off points have been observed.

INTRODUCTION: Rearrangements and abnormal expression of the CCND1 gene (also known as BCL1, PRAD1, U21B31 or D11S287E) have been described in several types of hematological malignancies such as follicular mantle lymphoma [t(11;14) CCND1/IGH] or some cases of diffuse large B-cell lymphoma. Although up to 15-20% of the malignant myelomas usually show Cyclin D nuclear expression, these cases do not have CCND1 gene translocation. On the other hand, there are cases of cyclin D1-negative mantle cell lymphoma and only the detection of the CCND1 gene translocation after a hybridization study can establish a diagnosis.

INTENDED USE: The CCND1 Break Apart FISH probe is designed to detect rearrangements in the CCND1 human gene located in the band of the chromosome 11q13.3. Aside from detecting breaks that can lead to translocation of parts of the gene, to its inversion or to its fusion with other genes, the probe can also be used to identify other aberrations of CCND1 such as deletions or amplifications.

PROBE DESCRIPTION: The 3’ telomeric fragment of the CCMD1 Break Apart FISH probe labeled with the fluorochrome CytoOrange covers some genomic sequences adjacent to the 3’ portion (beginning) of the CCND1. The 5’ centromeric fragment of the CCND1 Break apart FISH probe labeled with CytoGreen covers the sequences adjacent to the gene’s 3’ end. Both probes are flanking sequences of the CCND1 gene, in which variable cut-off points have been observed.

INTRODUCTION: Rearrangements involving the IGH locus (or immunoglobulin heavy locus) have been observed in many types of leukemias and lymphomas. It represents the prototype for translocations in B-cell non-Hodgkin lymphomas, in which it has been detected in up to 50% of the cases, whereas reciprocal and specific translocations with different chromosomal loci have been characterized and considered as pathognomonic for different histological subtypes.

INTENDED USE: The IGH Break Apart FISH probe is designed to detect rearrangements in the human IGH locus located in the chromosome band 14q32.33. Aside from detecting breaks that can lead to translocation of parts of the locus, to its inversion or to its fusion with other genes, the probe can also be used to identify other aberrations of IGH such as deletions or amplifications.

PROBE DESCRIPTION: The telomeric 5’ Fragment of the IGH Break Apart FISH probe labeled with the fluorochrome CytoOrange covers the 5’ portion and the center of the locus of the IGH gene, whereas the centromeric 3’ fragment of the IGH Break Apart FISH probe labeled with CytorGreen covers some distal sequences (3’ end) of the gene.Both loci are flanking sequences of the BCL2 gene, in which numerous cut-off points have been observed.

INTRODUCTION: Rearrangements and abnormal expression of the MYC gene (also known as MRTL, MYCC, c-Myc or bHLHe39) has been described in Burkitt lymphoma, in which its positivity has diagnostic utility in a clinical, morphological and immunohistochemical context. On the other hand, diffuse large B-cell or non-classifiable lymphoma, the MYC translocation shows a prognostic value and dictates a more aggressive treatment of the neoplasia. On the other hand, along with the determination of the BCL2 and BCL6 genes translocation, it has the purpose of establishing the double or triple-hit character of the neoplasia. Other hematological neoplasias, myelomas, as well as breast, cervical, colon or ovarian tumors, among others, can show MYC translocation.

INTENDED USE: The MYC Break Apart FISH probe is designed to detect rearrangements in the MYC human gene located in the chromosome band 8q24.21. Aside from detecting breaks that can lead to translocation of parts of the gene, to its inversion or to its fusion with other genes, the probe can also be used to identify other aberrations of MYC such as deletions or amplifications.

PROBE DESCRIPTION: The 5’ centromeric fragment of the MYC Break Apart FISH probe labeled with the fluorochrome CytoOrange covers genomic sequences adjacent to the 5’ portion (beginning) of the MYC gene. The 3’ telomeric fragment of the MYC Break apart FISH probe labeled with CytoGreen covers some distal sequences (3’ end) of the gene.Both loci are flanking sequences of the MYC gene, in which variable cut-off points have been observed.

INTRODUCTION: The rearrangements and the abnormal expression of the MET gene (also known as HGFR, AUTS9, RCCP2 or c-Met) have been described in hereditary and sporadic renal tumors and other types of tumors. The amplification of the MET gene has been detected in lung, breast, gastrointestinal and prostate carcinomas as well as in gliomas and melanomas, among others. In these tumors, the amplification of the gene is a negative prognostic factor and, in some cases, it is associated with resistance to the treatment.

INTENDED USE: The MET/CEN7 FISH probe is designed to detect amplifications of the MET human gene located in the band of the chromosome 7q31.2, in relation to the centromere of the Chromosome 7.

PROBE DESCRIPTION: The MET FISH probe labeled with the CytoOrange fluorochrome covers a chromosome region that includes the whole MET gene. The CEN7 FISH probe labeled with the CytoGreen fluorochrome is derived from the alpha satellite region of the centromere of the chromosome 7 and is designed as a control to determine the number of copies of the chromosome 7 per cell.

INTRODUCTION: Rearrangements and abnormal expression of the FUS gene (also known as TLS, ALS6, ETM4, FUS1, POMP75 or HNRNPP2) have been described in the alveolar rhabdomyosarcoma, prostate carcinoma and other types of tumors such as myxoid liposarcoma, low-grade fibromyxoid sarcoma or some cases of Ewing’s sarcoma.

INTENDED USE: The FUS Break Apart FISH probe is designed to detect rearrangements in the FUS human gene located in the band of the chromosome 16p11.2. Aside from detecting breaks that can lead to the translocation of parts of the gene, to its inversion or to its fusion with other genes, the probe can also be used to identify other aberrations of FUS such as deletions or amplifications.

PROBE DESCRIPTION: The 5’ telomeric fragment of the FUS Break Apart FISH probe labeled with the fluorochrome CytoOrange covers the 5’ portion (beginning) of the FUS gene and some adjacent genomic sequences. The 3’ centromeric fragment of the FUS Break apart FISH probe labeled with CytoGreen covers the center and the 3’ part (end) as well as the distal sequences of the gene. Both probes are flanking sequences in the FUS gene, in which variable cut-off points have been observed.

INTRODUCTION: The rearrangements and abnormal expression of the EWSR1 gene (also known as EWS or bK984G1.4) have been described in numerous soft-tissue lesions. Depending on the other gene involved in the reciprocal translocation, the break of the EWSR1 gene can be involved in the pathogenesis of the desmoplastic small-round-cell tumor, Ewing’s sarcoma/PNET, myxoid chondrosarcoma, soft-tissue myoepithelial tumor, myxoid liposarcoma, clear-cell sarcoma (soft-tissue melanoma), pulmonary myxoid sarcoma or hyalinizing clear cell carcinoma of salivary gland, among others. Thus, the presence of the EWSR1 gene rearrangement should be indicative, and the final diagnosis should be made by corroborating morphological, immunohistochemical and sometimes radiological facts.

INTENDED USE: The EWSR1 Break Apart FISH probe is designed to detect rearrangements in the EWSR1 human gene located in the band of the chromosome 22q12.2. Aside from detecting breaks that can lead to translocation of parts of the gene, to its inversion or to its fusion with other genes, the probe can also be used to identify other aberrations of EWSR1 such as deletions or amplifications.

PROBE DESCRIPTION: The 5’ centromeric fragment of the EWSR1 Break Apart FISH probe labeled with the fluorochrome CytoOrange covers the 5’ portion (beginning) of the EWSR1 gene and some adjacent genomic sequences. The 3’ telomeric fragment of the EWSR1 Break apart FISH probe labeled with CytoGreen covers the 3’ part (end) as well as the adjacent and inferior sequences of the gene. Both probes are flanking sequences in the EWSR1 gene, in which variable cut-off points have been observed.

INTRODUCTION: Abnormal expression of the SS18 gene (also known as SYT or SSXT) has been described in up to 80% of synovial sarcomas (regardless of their morphology) in which SYT-SSX1, SYT-SSX2, SYT-SSX4 translocations can appear. All of them are involved in their pathogenesis, but also in the prognosis of the neoplasm. The SYT-SSX1 one shows, in general, a less favorable prognosis. Rarely, translocation t(X-18) has been detected in pleomorphic sarcomas (previously named as malignant fibrous histiocytoma) or in fibrosarcomas.

INTENDED USE: The SS18 Break Apart FISH probe is designed to detect rearrangements in the SS18 human gene located in the band of the chromosome 18q11.2. Aside from detecting breaks that can lead to translocation of parts of the gene, to its inversion or to its fusion with other genes, the probe can also be used to identify other aberrations of SS18 such as deletions or amplifications.

PROBE DESCRIPTION: The 5’ telomeric fragment of the SS18 Break Apart FISH probe labeled with the fluorochrome CytoOrange covers the 5’ portion (beginning) of the SS18 gene and some adjacent genomic sequences.The 3’ centromeric fragment of the SS18 Break apart FISH probe labeled with CytoGreen covers the 3’ part (end) and the adjacent and inferior sequences of the gene. Both probes are flanking sequences in the SS18 gene, in which variable cut-off points have been observed.

INTRODUCTION:  Mixoid / round cell liposarcoma (MRCLS) is the most common liposarcoma. In comparison with other liposarcomas, MRCLS has a greater tendency to metastasize. Rearrangements and abnormal expression of the DDIT3 gene also known as CHOP, CEBPZ, CHOP10, CHOP-10, GADD153 in myxoid liposarcoma and other malignancies have been observed. One most common abnormality is the reciprocal translocation t (12; 16) (q13; p11) that is present in up to 95% of cases. The resulting FUS-DDIT3 fusion protein has oncogenic potential and interferes with adipogenic differentiation. EWSR1 is an alternative translocation partner of DDIT3 and the resulting fusion protein EWSR1-DDIT3, which originates at t (12; 22) (q13; q12), accounts for <5% of MRCLS cases. The DDIT3 rearrangements are highly specific for MRCLS due to the presence of the FUS-DDIT3 or EWSR1-DDIT3 fusion genes.

INTENDED USE: The DDIT3 Break Apart FISH probe is designed to detect rearrangements in the human DDIT3 gene located in the band of chromosome 12q13.3. In addition to detecting breaks that can lead to the translocation of parts of the gene, its inversion or its fusion to other genes, the probe can also be used to identify other aberrations of the DDIT3 gene such as deletions or amplifications.

PROBE DESCRIPTION: The telomeric 5 ‘fragment of the DDIT3 Break Apart FISH probe labeled with the CytoGreen fluorochrome covers some genomic sequences adjacent to the 5′ end of the DDIT3 geneThe 3’-centromeric fragment of the DDIT3 Break Apart FISH probe labeled with CytoOrange covers some genomic sequences of the 3 ‘end of the gene.The two probes are sequences that flank the DDIT3 gene region where several cut points have been observed.

INTRODUCTION: Deletions and other abnormalities of the regions 1p and 19q have been observed in gliomas, astrocytomas, and other malignant diseases. The detection of the 1p/19q co-deletions represents a diagnostic criterion for oligodendrogliomas.

INTENDED USE: The FISH 1p36/1q25 probe is designed to simultaneously detect changes in the human TP73 and ABL2 genes, located in the 1p36.32 and 1q25.2 chromosome bands, respectively.

PROBE DESCRIPTION: The 1p36 FISH probe labeled with the CytoOrange fluorochrome covers a chromosome region that includes the whole TP73 gene located in the telomere region of the short arm of chromosome 1 and represents the target signal. The 1q25 FISH probe labeled with the CytoGreen fluorochrome covers a chromosome region that includes the whole ABL2 gene.

INTRODUCTION: Deletions and other abnormalities of the regions 1p and 19q have been described in gliomas, astrocytomas, and other malignant diseases. The 1p/19q co-deletions represent a diagnostic criterion in the case of oligodendrogliomas.

INTENDED USE: The FISH 19q13/19p13 is designed to simultaneously detect changes in the human GLTSCR1 and ZNF443 genes, located in the 19q13.33 and 19p13.2 chromosome bands, respectively.

PROBE DESCRIPTION: The 19q13 FISH probe labeled with the CytoOrange fluorochrome covers a chromosome region that includes the whole GLTSCR1 gene in the telomere region of the long arm of chromosome 19 and represents the target signal.The 19p13 FISH probe labeled with the CytoGreen fluorochrome covers a chromosome region that includes the whole ZNF443 gene.