CytoCell PAX7 Breakapart FISH Probe

Product summary

Technology FISH
Application Solid tumour
Areas of interest Sarcoma
Region 1p36.13
Label
Product Code LPS 013 (10 tests)
LPS 013-S (5 tests)
Regulatory Status 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.

Documentation

Overview

Probe specification

PAX7, 1p36.13, Red
PAX7, 1p36.13, Green

The PAX7 Breakapart probe consists of a green 109kb probe and a red 139kb probe, which are positioned on each side of the PAX7 gene.

Probe information

Rhabdomyosarcoma (RMS) is the most common soft-tissue sarcoma in children. One of the primary histological subtypes is the alveolar RMS (ARMS)¹.

The majority (55%) of ARMS are associated with the t(2;13)(q36.1;q14) translocation, and less commonly (22%) with t(1;13)(p36;q14), leading to the fusion of transcription factor FOXO1 (Forkhead Box protein 1) to the transcription factors PAX3 (Paired Box protein 3) and PAX7, respectively². The distinction between the t(1;13) and t(2;13) in ARMS is important as patients with the t(2;13) have a more adverse outcome than those with the t(1;13)³.

In ARMS cases that are negative for translocations involving FOXO1, there are two other variant PAX3 translocations that could be present - t(X;2)(q13;q36.1) PAX3-FOXO44 and t(2;2)(q36.1;p23) PAX3-NCOA1⁵.

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.