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PDGFRA-associated chronic eosinophilic leukemia
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Conditions

PDGFRA-associated chronic eosinophilic leukemia

PDGFRA-associated chronic eosinophilic leukemia is a rare blood disorder characterized by an overproduction of eosinophils and subsequent organ damage.

Overview

PDGFRA-associated chronic eosinophilic leukemia is a condition marked by an elevated number of eosinophils in the blood. While these cells typically help fight parasitic infections and manage inflammation, this condition involves an abnormal increase that is not related to those immune responses. The excess eosinophils release substances that cause damage to organs, most commonly the heart, skin, lungs, or nervous system.

Symptoms

Organ damage caused by excess eosinophils can lead to a variety of health issues, including:

  • Eosinophilic endomyocardial disease (a heart condition)
  • Skin rashes
  • Coughing and difficulty breathing
  • Swelling in the lower limbs
  • Confusion and behavioral changes
  • Impaired movement or sensations
  • Enlarged spleen (splenomegaly)
  • Elevated levels of vitamin B12 and tryptase in the blood

Some individuals may also have increased numbers of other white blood cells, such as neutrophils or mast cells. In some cases, this condition can progress to other blood cell cancers, such as acute myeloid leukemia or acute lymphoblastic leukemia.

Causes

This condition is caused by somatic mutations in the PDGFRA gene, which are acquired during a person's lifetime. These mutations often involve genetic rearrangements that fuse part of the PDGFRA gene with another gene, most commonly the FIP1L1 gene on chromosome 4, creating the FIP1L1-PDGFRA fusion gene.

Normally, the PDGFRA gene provides instructions for a receptor protein that regulates cell growth and survival. The fusion protein created by these mutations is constantly activated without the need for a signal, leading to the uncontrolled growth and survival of eosinophils.

Inheritance

PDGFRA-associated chronic eosinophilic leukemia is not inherited. Because the mutations are somatic, they occur only in certain cells during a person's lifetime and are not passed down through families. Males are more likely to develop this condition than females, though the reason for this is currently unknown.

Frequently Asked Questions

Eosinophils release cytotoxic granules that cause endomyocardial necrosis, fibrosis, and intracardiac thrombi, often presenting without early cardiac symptoms. An echocardiogram and baseline troponin or serum cardiac biomarkers are critical because massive, rapid lysis of eosinophils at the start of therapy can occasionally trigger acute heart failure, sometimes necessitating transient corticosteroid co-administration.
Low-dose imatinib (often 100 mg daily, compared to standard higher doses for other leukemias) produces exceptional outcomes, typically normalizing blood counts within weeks and achieving complete molecular remission in nearly all patients. Most patients remain on long-term maintenance therapy with excellent tolerability and an overall survival rate comparable to the
The classic FIP1L1-PDGFRA fusion is created by a submicroscopic 800-kilobase interstitial deletion on chromosome 4q12, which is invisible on standard routine cytogenetic karyotyping. Clinicians must specifically order fluorescence in situ hybridization (FISH) or reverse transcriptase-polymerase chain reaction (RT-PCR) to detect the cryptic fusion gene.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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