Eosinophilia FISH Panel
Use
The eosinophilia FISH panel is used to aid in the diagnosis of myeloid and lymphoid neoplasms with eosinophilia and prediction of therapeutic response. The clinical and morphologic features of these diseases can overlap, but each mutation has a characteristic presentation. FIP1L1-PDGFRA rearrangement is generally found in CEL, but the presentation can be as AML, T-lymphoblastic lymphoma, or both simultaneously. Rearrangement is usually cryptic by routine cytogenetics. Myeloid neoplasms with PDGFRB usually present as chronic myelomonocytic leukemia, but may also present as atypical chronic myeloid leukemia (aCML), CEL, MPN with eosinophilia, AML and juvenile myelomonocytic leukemia (JMML). Myeloid and lymphoid neoplasms with FGFR1 are generally aggressive and may present as MPN, AML, T- or B-LBL/ALL, or mixed phenotype acute leukemia.
Special Instructions
Use cold pack for transport, making sure cold pack is not in direct contact with specimen. For fresh samples: refrigerate before shipping and ship same day as drawn whenever possible. Do not freeze. NYS clients please provide date and time of collection.
Limitations
PDGFRA and PDGFRB mutations predict responsiveness to tyrosine kinase inhibitors, but MPN with FGFR1 rearrangement do not respond to imatinib and there is no currently established TKI therapy, although some promising new therapies have been reported. AML with inversion 16 may present with less than 20% blasts and can be a subtle abnormality by conventional cytogenetics, so confirmation with FISH is recommended.
New York Approved
Methodology
Chromosomal / Cytogenetics (FISH)
Biomarkers
Result Turnaround Time
3-5 days
Related Documents
For more information, please review the documents below
Specimen
Bone Marrow
Volume
1-2 mL
Minimum Volume
Not provided
Container
sodium heparin tube. EDTA tube is acceptable.