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Product summary

  • Technology FISH
  • Application Solid tumour
  • Areas of interest Sarcoma
  • Region 13q14.1
  • Label    
  • Product No. LPS 049 (10 tests)
    LPS 049-S (5 tests)
  • Intended use In vitro diagnostic. This product is intended to be used on formalin-fixed paraffin-embedded (FFPE) tissues. Disease information supported by the literature and is not a reflection of the intended purpose of this product.

Chromomaps

Overview

Probe specification

  • FOXO1, 13q14.1, Red
  • FOXO1, 13q14.1, Green

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.

 

Probe information

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.

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References

  1. Anderson et al., Am J Pathol. 2001 Sep;159(3):1089-96
  2. Jothi et al., Mol Cancer Ther. 2013 Dec;12(12):2663-74
  3. Ognjanovic et al., Cancer 2009; 115(18): 4218–4226.
  4. Sorensen et al., J Clin Oncol. 2002;20(11):2672-9
  5. Skapek et al., Pediatr Blood Cancer. 2013 Sep;60(9):1411-7
  6. Duan et al., Genes Chromosomes Cancer. 2012 Jul;51(7):662-67

FFPE tissue preparation and FISH protocol

Select a protocol step to view:

Heat pretreatment

Heat pretreatment Thumbnail
  • Heat 500ml Tissue Pretreatment Solution (Reagent 1) until it is either boiling or 96-98°C.
  • Heat slides for 15 minutes (Note: different incubation times may be required depending on tissue fixation. A 15 minute incubation is a recommended starting point).
  • Wash in PBS or dH2O at room temperature (RT) for 2 x 3 minutes.
Solid tumour FFPE FISH protocol Video Image
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Solid tumour FFPE FISH protocol

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