FIP1L1-PDGFRA Fusion by FISH or RT-PCR

Factor interacting with PAPOLA and CPSF1 (i.e, FIP1L1; also termed Pre-mRNA 3′-end-processing factor FIP1) is a protein that in humans is encoded by the FIP1L1 gene (also known as Rhe, FIP1, and hFip1). An medically important aspect of the FIP1L1 gene is its fusion with other genes to form fusion genes which cause clonal hypereosinophilia and leukemic diseases in humans.

Also Known As:  HES/Leukemia, 4q12 (CHIC2) deletion, PDGFRA-FIP1L1 gene rearrangement, FIP1-like-1/platelet-derived growth factor alpha
Formal Name:  FIP1L1-PDGFRA Fusion by FISH or RT-PCR

Receive all our future posts instantly in your inbox. Enter your email to enroll.

Related Tests: Complete Blood Count, WBC Differential, Blood Smear, Interleukin-5, Total IgE, Vitamin B12 and Folate, Immunophenotyping, C-KIT Mutation, Bone Marrow Aspiration and Biopsy, Chromosome Analysis

Why Get Tested:

• To help investigate the cause of hypereosinophilia (HE)
• A condition with persistent increase in the number of eosinophils
• A condition with persistent increase a specific type of white blood cell
• A condition with persistent increase a hypereosinophilic syndrome (HES)
• Which is HE with associated tissue or organ damage
• to help determine if someone with HE or HES can be treated with a tyrosine kinase inhibitor (TKI) such as imatinib

When to Get Tested:

• When the complete blood counts (CBC) test indicate that you have persistently elevated eosinophils
• When your healthcare practitioner has ruled out other causes such as allergies, parasitic infection, or medication
• At regular intervals when you are being treated for HE or HES with imatinib

Sample Required:

• A blood sample drawn from a vein in your arm or
• A bone marrow sample collected using a bone marrow aspiration and/or biopsy procedure

Common HES signs and symptoms:

• Fever
• Fatigue
• Cough, wheezing, shortness of breath
• Swelling under the skin around the eyes and lips, in the throat, or on the hands and feet
• Swollen lymph nodes or organs
• Muscle pain
• Itching, rash or blistering of the skin
• Diarrhea

Normal Ranges:

The Normal ranges for your tests can be found on your laboratory report. They are typically found to the right of your results.

If you do not have your lab report, consult your healthcare provider or the laboratory that performed the test(s) to obtain the reference range.

Related Articles: