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FIP1L1/PDGFRα 4q12 Gene Rearrangement by FISH

Test Code

F 4Q12

Test Synonyms

4q12 rearrangement, CHIC2/F1LP1L1/PDGFRα, platelet-derived growth factor receptor-α

Associations

Hypereosinophilia, Mast cell

Methodology

Fluorescence in situ Hybridization (FISH)

Turnaround Time

3-5 days

Specimen Requirements

2.0 mL (min. 1.0 mL) peripheral blood in sodium heparin preferred, EDTA accepted
1.0 mL (min. 0.5 mL) bone marrow in sodium heparin preferred, EDTA accepted
5 mm^3 fresh tissue or 3.0 mL (min. 2.0 mL) FNA in MPLN RPMI media

Specimen Stability
Peripheral blood and bone marrow stable at 18-25°C for 72 hours
Fresh tissue or FNA stable at 2-8°C for 72 hours
Storage & Handling

Whole blood and bone marrow, ship ambient
Fresh tissue and FNA ship in a Styrofoam container with a cool/refrigerated pack (Do not allow cool pack to directly contact sample)

Causes for Rejection

Clotted specimen; Specimen exposed to extreme temperature; Anticoagulant toxic to cells; Insufficient number of cells; Improper fixative

Reference Range

See report

Description

An interstitial deletion on chromosome 4q12 resulting in the formation of the FIP1L1-PDGFRα fusion protein is involved in the pathogenesis of imatinib-sensitive chronic eosinophilic leukemia. Chromosomal deletions resulting in the formation of FIP1L1-PDGFRα has been observed in 14% to 60% of patients with hypereosinophilic syndrome. FISH can detect this deletion in either interphase or metaphase cells.

References
  1. Buitenhuis M et al. (2007). Cancer Res. 67:(8) April 15.