CytoCell TFE3 Breakapart FISH Probe

Product summary

Technology FISH
Application Solid tumour
Areas of interest Sarcoma
Region Xp11.23
Label
Product Code RU-LPS 051 (100μl)
RU-LPS 051-S (50μl)
Regulatory Status For research use only, not for use in diagnostic procedures. Disease information supported by the literature and is not a reflection of the intended purpose of this product.

Documentation

Overview

Probe specification

TFE3, Xp11.23, Red
TFE3, Xp11.23, Green

The TFE3 Breakapart probe consists of two probes (279kb and 252kb), labelled in green, situated distal to the TFE3 gene and covering markers DXS6949 and STS-Z38762 and two probes (208kb and 325kb), labelled in red, situated proximal to the TFE3 gene and covering markers DXS9735 and DXS8366.

Probe information

TFE3 (transcription factor binding to IGHM enhancer 3) is a protein-coding gene located at Xp11.23. Recurrent rearrangements of the TFE3 gene have been reported in a number of neoplastic diseases – often grouped together as ‘Xp11 translocation cancers’ – these include: renal cell carcinoma (RCC), soft tissue alveolar soft part sarcoma (ASPS), perivascular epithelioid cell tumors (PEComa), epithelioid hemangioendotheliomas (EHE) and melanotic Xp11 translocation renal cancer¹,².

In RCC, TFE3 translocation partners have been shown to include the ASPSCR1, SFPQ and NONO genes³. Although RCC and ASPS have been shown to have identical ASPSCR1-TFE3 fusion transcripts, the t(X;17) translocation is consistently balanced in the former but usually unbalanced in the latter - the derivative X chromosome is not seen in ASPS⁴.

In epithelioid hemangioendothelioma the novel YAP1-TFE3 fusion is seen, and defines a clinically distinct subset of this disease⁵,⁶, whereas in PEComa, the predominant partner has been shown to be the SFPQ gene⁷.

This research use only (RUO) probe has been designed for the investigation of TFE3 rearrangements, regardless of the partner gene involved.

References

Eble JN, et al., World Health Organization Classification of Tumours. Pathology and Genetics of Tumours of the Urinary System and Male Genital Organs. Lyon: IARC Press; 2004
Wu A et al., Histopathology 2008;53(5):533-44
Hodge JC, et al., Mod Pathol 2014 Jan;27(1):113–27
Argani P, et al., Am J Pathol 2001;159(1):179–92
Antonescu CR, et al., Genes, Chromosom Cancer. 2013 Aug;52(8):775–84
Lee SJ, et al., Oncotarget. 2016;7(7):7480–8
Rao Q, et al., Am J Surg Pathol. 2015 Sep;39(9):1181-96

FFPE tissue preparation and FISH protocol

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Heat pretreatment

Heat 50ml Tissue Pretreatment Solution (Reagent 1) in a porcelain wash jar or coplin jar immersed in a waterbath until it is either boiling or 98 - 100°C.
Boil slides for 30 minutes (Note: different incubation times may be required depending on tissue fixation. A 30-minute incubation is a recommended starting point).
Wash in PBS or dH₂O at room temperature (RT) for 2 x 3 minutes.