Definition

The FIP1L1-PDGFRA fusion does not arise from a reciprocal translocation but from a cryptic interstitial deletion at 4q12, and is defined in the WHO classification under the category "myeloid/lymphoid neoplasm with PDGFRA rearrangement"; it is positive in a subset of cases presenting with eosinophilia. This fusion leads to permanent activation of the PDGFRA tyrosine kinase and shows unusually high sensitivity to imatinib.

Method

FISH analysis

Accepted sample types

Bone marrow (heparin), Blood (heparin)

Description

Diagnosis of CML, HES and CEL. Response to drug treatment, Gleevec (Imatinib).

Inheritance

Somatic, an acquired abnormality in clonal hematopoietic cells.

Related Tests

Inheritance Patterns

Describes how a genetic condition is passed on within a family. There are five main patterns

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Carrier (Heterozygous / Homozygous)

Why it matters: In autosomal recessive inheritance, when each parent is a carrier (while both appear healthy), the chance of their child being born with the disease is 25% in each

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VUS (Variant of Uncertain Significance)

This is the situation where the test has detected a change in the DNA, but the role of this change in the development of disease is unconfirmed.

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How to Read a Genetic Test Result (Positive / Negative / VUS)

A genetic test result falls into three main categories

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Types of Genetic Tests

A genetic test is a type of medical test that detects changes in genes, chromosomes or proteins. Today there are more than 77,000 genetic tests available.

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