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Test ID: CHICF CHIC2 (4q12) Deletion (FIP1L1 and PDGFRA Fusion), FISH, Varies

Useful For

Providing genetic information for patients with hypereosinophilic syndrome (HES) and systemic mast cell disease (SMCD) involving CHIC2 deletion

 

Identifying and tracking chromosome abnormalities and response to therapy

Reflex Tests

Test ID Reporting Name Available Separately Always Performed
_PBCT Probe, +2 No, (Bill Only) No
_PADD Probe, +1 No, (Bill Only) No
_PB02 Probe, +2 No, (Bill Only) No
_PB03 Probe, +3 No, (Bill Only) No
_IL25 Interphases, <25 No, (Bill Only) No
_I099 Interphases, 25-99 No, (Bill Only) No
_I300 Interphases, >=100 No, (Bill Only) No

Testing Algorithm

This test includes a charge for application of the first probe set (2 FISH probes) and professional interpretation of results. Additional charges will be incurred for all reflex probes performed. Analysis charges will be incurred based on the number of cells analyzed per probe set. If no cells are available for analysis, no analysis charges will be incurred.

Method Name

Fluorescence In Situ Hybridization (FISH)

Reporting Name

CHIC2 (4q12) Deletion, FISH

Specimen Type

Varies


Specimen Required


Provide a reason for referral with each specimen. The laboratory will not reject testing if this information is not provided, but appropriate testing and interpretation may be compromised or delayed.

 

Advise Express Mail or equivalent if not on courier service.

 

Submit only 1 of the following specimens:

 

Specimen Type: Blood

Container/Tube: Green top (sodium heparin)

Specimen Volume: 7-10 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Other anticoagulants are not recommended and are harmful to the viability of the cells.

 

Specimen Type: Bone marrow

Container/Tube: Green top (sodium heparin)

Specimen Volume: 1-2 mL

Collection Instructions:

1. Invert several times to mix bone marrow.

2. Other anticoagulants are not recommended and are harmful to the viability of the cells.


Specimen Minimum Volume

Blood: 2 mL
Bone Marrow: 1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Ambient (preferred)
  Refrigerated 

Clinical Information

Imatinib mesylate, a small molecule tyrosine kinase inhibitor from the 2-phenylaminopyrimidine class of compounds, has shown activity in the treatment of malignancies that are associated with the constitutive activation of a specific subgroup of tyrosine kinases. A novel tyrosine kinase, generated from fusion of the Fip1-like 1 (FIP1L1) gene to the PDGFRA gene, was identified in 9 of 16 patients (56%) with hypereosinophilic syndrome (HES). This fusion results from an approximate 800 kb interstitial chromosomal deletion that includes the cysteine-rich hydrophobic domain 2 (CHIC2) locus at 4q12. FIP1L1-PDGFRA is a constitutively activated tyrosine kinase that transforms hematopoietic cells, and is a therapeutic target for imatinib in a subset of HES patients.

 

Mast cell disease (MCD) is a clinically heterogeneous disorder wherein accumulation of mast cells (MC) may be limited to the skin (cutaneous mastocytosis) or involve 1 or more extra-cutaneous organs (systemic MCD [SMCD]). SMCD is often associated with eosinophilia (SMCD-eos). We recently tested the therapeutic activity of imatinib in 12 adults with SMCD-eos. In this study, we demonstrated that FIP1L1-PDGFRA is the therapeutic target of imatinib in the specific subset of patients with SMCD-eos. Furthermore, we provided evidence that the CHIC2 deletion is a surrogate marker for the FIP1L1-PDGFRA fusion.

Reference Values

An interpretive report will be provided.

Interpretation

A neoplastic clone is detected when the percent of cells with an abnormality exceeds the normal reference range.

 

Detection of an abnormal clone is usually associated with hypereosinophilic syndrome or systemic mastocytosis associated with eosinophilia.

 

The absence of an abnormal clone does not rule out the presence of neoplastic disorder.

Clinical Reference

1. Pardanani A, Ketterling RP, Brockman SR, et al: CHIC2 deletion, a surrogate for FIP1L1-PDGFRA fusion, occurs in systemic mastocytosis associated with eosinophilia and predicts response to imatinib mesylate therapy. Blood Nov 1 2003;102(9):3093-3096

2. Pardanani A, Brockman SR, Paternoster SF, et al: F1P1L1-PDGFRA fusion: prevalence and clinicopathologic correlates in 89 consecutive patients with moderate to severe eosiniphilia. Blood 2004;104:3038-3045

3. Cools J, DeAngelo DJ, Gotlib J, et al: A tyrosine kinase created by fusion of the PDGFRA and FIP1L1 genes as a therapeutic target of imatinib in idiopathic hypereosinophilic syndrome. N Engl J Med Mar 2003;348(13):1201-1214

Test Classification

This test was developed using an analyte specific reagent. Its performance characteristics were determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

CPT Code Information

88271 x 2, 88291 DNA probe, each (first probe set), Interpretation and report

88271 x 2 DNA probe, each; each additional probe set (if appropriate)

88271 x 1 DNA probe, each; coverage for sets containing 3 probes (if appropriate)

88271 x 2 DNA probe, each; coverage for sets containing 4 probes (if appropriate)

88271 x 3 DNA probe, each; coverage for sets containing 5 probes (if appropriate)

88274 w/modifier 52 Interphase in situ hybridization, <25 cells, each probe set (if appropriate)

88274-Interphase in situ hybridization, 25 to 99 cells, each probe set (if appropriate)      

88275-Interphase in situ hybridization, 100 to 300 cells, each probe set (if appropriate)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
CHICF CHIC2 (4q12) Deletion, FISH 56144-9

 

Result ID Test Result Name Result LOINC Value
51798 Result Summary 50397-9
51800 Interpretation 69965-2
51799 Result Table 93356-4
54530 Result 56144-9
CG655 Reason for Referral 42349-1
CG656 Specimen 31208-2
51801 Source 31208-2
51802 Method 49549-9
53428 Additional Information 48767-8
55274 Disclaimer 62364-5
51803 Released By 18771-6

Forms

If not ordering electronically, complete, print, and send a Hematopathology/Cytogenetics Test Request (T726) with the specimen.

Mayo Clinic Laboratories | Hematology Catalog Additional Information:

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