The FOXO1 Breakapart probe consists of two probes (405kb and 183kb), labelled in green, situated proximal to the FOXO1 gene and covering markers D13S765 and SHGC-111293 and four probes (123kb, 142kb, 95kb and 253kb), labelled in red, situated distal to the FOXO1 gene and covering markers D13S638 and SHGC-16596.
Translocations involving the FOXO1 (forkhead box O1) gene at 13q14.1 and either the PAX3 (paired box 3) gene at 2q36.1 or the PAX7 (paired box 7) gene at 1p36.1 are seen frequently in cases of alveolar rhabdomyosarcoma1,2.
Rhabdomyosarcoma is the most common soft-tissue sarcoma seen in children and younger adults with two major histological subtypes: alveolar rhabdomyosarcoma (ARMS) and embryonal rhabdomyosarcoma (ERMS)3. FOXO1 rearrangements are recognised recurrent abnormalities seen in ARMS, but not seen in ERMS1,2.
Approximately 55% of cases of ARMS are associated with a PAX3-FOXO1 rearrangement via a t(2;13)(q36.1;q14) translocation and 22% of cases of ARMS are associated with a PAX7- FOXO1 rearrangement via a t(1;13)(p36;q14) translocation4. These translocations lead to the fusion of transcription factor FOXO1 to the transcription factors PAX3 and PAX7 located at 2q36.1 and 1p36.13 respectively2.
Studies have shown that ARMS patients with PAX-FOXO1 rearrangements have an inferior outcome compared to ERMS patients, whereas ARMS patients without PAX-FOXO1 rearrangements show similar outcomes to ERMS2,5.
A subset of patients with ARMS may show fusion gene amplification. This is most commonly associated with the presence of PAX7-FOXO1 rearrangements and has been shown to be associated with significantly improved outcome over ARMS patients with PAX-FOXO1 rearrangements without fusion gene amplification6.
This breakapart probe design allows the detection of FOXO1 rearrangements, regardless of the partner gene involved.
In vitro diagnostic (IVD)
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Find certificate of analysis documentation for our CytoCell FISH probes
Our lab has been using a wide range of CytoCell FISH probes for a number of years, and have been increasing this range all the time. The probes have clear bright signals and show good reproducibility. CytoCell provides fast delivery of catalogue probes, and are very responsive when we have any queries or problems with their products.
Bridget Manasse
Addenbrookes Hospital, Cambridge University Hosiptals NHS Foundation Trust, UK
In our hands, CytoCell FISH probes have proven to be of the highest quality with bright, easy to interpret signals, thus providing confidence in our results. OGT's customer support is outstanding, as their staff are extremely knowledgeable and truly care about their customers and their customers’ needs.
Jennie Thurston
Director of Cytogenetics, Carolinas Pathology Group, USA
I first came across CytoCell FISH probes in a previous lab I worked in and I was struck by the quality of the products. Since this time, I have been recommending and introducing CytoCell probes across all application areas — now they are the primary FISH probes used in our lab. They have an excellent range of products and their ready-to-use reagent format saves considerable time.
Elizabeth Benner
Medical Technologist, University of Arizona Health Network, USA
We have been working with CytoCell fish probes for two decades because of their excellent clarity and intensity regardless of the size of the probe. It is so clear and simple to detect.
Dr. Marina Djurisic
Head of Laboratory of Medical Genetics, Mother and Child Health Care Institute of Serbia “Dr Vukan Cupic”, Serbia
The quality and consistency of CytoCell’s probes means I can trust the results, and my clients get their results in a timely manner.
Dr. Theresa C. Brown
Director, Cytogenetics Laboratory, Hayward Genetics Center, Tulane University School of Medicine, USA
It was very important for us to have more consistent results with our probes — easy-to-read bright signals and a range of vial sizes, which is much more cost-effective.
Janet Cowan, PhD
Director of the Cytogenetics Laboratory, Tufts Medical Center, USA
Not only do CytoCell offer an extensive range of high-quality FISH probes, the customer support is also excellent — providing fast access to all the probes I need. The probes are highly consistent with bright signals allowing easy scoring of results.
Dr. Eric Crawford
Senior Director, Genetics Associates Inc., USA
The quality and reproducibility of results using the CytoCell kit has been vital in accurately detecting co-deletions in our glioma investigations. We now have a cost-effective test that we can rely on that is also easy to use and interpret. We've been consistently impressed with this kit - not to mention the support offered by OGT's customer service, and have completely transitioned over to CytoCell probes.
Gavin Cuthbert, FRCPath
Head of Cancer Cytogenetics, Northern Genetics Servce, Newcastle, UK