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FIP1L1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

FIP1L1 gene

The FIP1L1 gene provides instructions for a protein complex involved in processing messenger RNA, which is essential for protein production.

Normal Function

The FIP1L1 gene provides instructions for making part of a protein complex named cleavage and polyadenylation specificity factor (CPSF). This complex plays an important role in processing messenger RNAs (mRNAs), which serve as genetic blueprints for making proteins. The CPSF complex helps add a string of the RNA building block adenine to the mRNA, creating a poly(A) tail. This tail is vital for the stability of the mRNA and for the subsequent production of proteins from the blueprint.

Health Conditions Related to Genetic Changes

PDGFRA-associated chronic eosinophilic leukemia

A deletion of genetic material from chromosome 4 can create a FIP1L1-PDGFRA fusion gene. This is a somatic mutation, meaning it is acquired during a person's lifetime and is present only in certain cells. This fusion gene causes PDGFRA-associated chronic eosinophilic leukemia, a blood cell cancer characterized by an increased number of eosinophils (a type of white blood cell).

The resulting FIP1L1-PDGFRA protein is constantly turned on (constitutively activated), unlike the normal PDGFRA protein. This causes the cells to receive constant signals to grow and divide. When this mutation occurs in blood cell precursors, the growth of eosinophils becomes poorly controlled, leading to leukemia.

Other Names for This Gene

  • FIP1-like 1 protein
  • FIP1_HUMAN
  • hFip1
  • pre-mRNA 3'-end-processing factor FIP1
  • Rhe

Frequently Asked Questions

Targeted therapy with the tyrosine‑kinase inhibitor imatinib (usually 100 mg daily) is the first‑line treatment. Over 90 % of patients achieve a complete hematologic remission and a rapid drop in eosinophil count, often within weeks. Long‑term disease control is maintained in most patients, but regular monitoring for resistance or side effects is essential.
Initially, eosinophil counts are checked every 1–2 weeks until they normalize, then every 1–3 months. Molecular monitoring for the FIP1L1‑PDGFRA transcript is typically performed every 3–6 months to confirm continued molecular remission, and more frequently if there are clinical concerns.
The fusion is usually identified by a quantitative PCR or next‑generation sequencing assay performed on peripheral blood or bone‑marrow aspirate. Cytogenetics (FISH) can also show the deletion on chromosome 4 that creates the fusion. Your hematology lab will request a blood draw, and if the result is inconclusive, a bone‑marrow sample may be taken for more detailed analysis.
Sudden chest pain, shortness of breath, severe abdominal pain, neurological changes (e.g., weakness, vision loss), or signs of bleeding (e.g., easy bruising, blood in stool) could indicate organ damage from eosinophil infiltration or a drug‑related complication. Contact your oncologist or go to the emergency department immediately if any of these occur.
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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