Definition

This tri-color FISH probe detects an approximately 800 kb interstitial deletion spanning the CHIC2 gene in the 4q12 region; this deletion creates the FIP1L1-PDGFRA fusion gene and is found in a significant subgroup of BCR-ABL1-negative hypereosinophilic syndrome (HES) and chronic eosinophilic leukemia (CEL) cases, and should not be confused with classic CML (BCR-ABL1 positive) itself. FIP1L1-PDGFRA positivity is associated with a dramatic response to imatinib.

Method

FISH analysis

Accepted sample types

Bone marrow (heparin), Blood (heparin)

Description

Diagnosis of CML.

Inheritance

Somatic, an acquired deletion/fusion in clonal myeloid disease.

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Carrier (Heterozygous / Homozygous)

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VUS (Variant of Uncertain Significance)

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