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HelpTest ID: FGFR2 FGFR2 (10q26.1) Rearrangement, FISH, Tissue
Useful For
Providing prognostic information and guiding treatment for patients with cholangiocarcinomas and other tumor types including bladder, thyroid, oral cavity, and brain
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 the probe application, analysis, and professional interpretation of results for one probe set (2 individual fluorescence in situ hybridization probes). No analysis charges will be incurred if an insufficient number of representative cells are available for analysis.
Appropriate ancillary probes may be performed at consultant discretion to render comprehensive assessment. Any additional probes will have the results included within the final report and will be performed at an additional charge.
Method Name
Fluorescence In Situ Hybridization (FISH)
Reporting Name
FGFR2 (10q26.1), FISH, TsSpecimen Type
TissueOrdering Guidance
Multiple oncology (cancer) gene panels are also available. For more information see Hematology, Oncology, and Hereditary Test Selection Guide
Shipping Instructions
Advise Express Mail or equivalent if not on courier service.
Necessary Information
2. The following information must be included in the report provided.
1. Patient name
2. Block number - must be on all blocks, slides, and paperwork
3. Date of collection
4. Tissue source
3. A reason for testing must be provided. If this information is not provided, an appropriate indication for testing may be entered by Mayo Clinic Laboratories.
Specimen Required
Submit only 1 of the following specimens:
Preferred
Specimen Type: Tissue block
Collection Instructions: Submit a formalin-fixed, paraffin-embedded tumor tissue block. Blocks prepared with alternative fixation methods may be acceptable; provide fixation method used.
Additional Information:
1. Paraffin-embedded specimens can be from any anatomic location (skin, soft tissue, lymph node, etc).
2. Bone specimens that have been decalcified will be attempted for testing, but the success rate is approximately 50%.
Acceptable
Specimen Type: Tissue slides
Slides: 1 Hematoxylin and eosin stained and 4 unstained
Collection Instructions: Submit 1 slide stained with hematoxylin and eosin and 4 consecutive unstained, positively charged, unbaked slides with 5 micron thick sections of the tumor tissue
Specimen Minimum Volume
Slides: 1 Hematoxylin and eosin stained and 2 unstained
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Tissue | Ambient (preferred) | ||
| Refrigerated | |||
Clinical Information
Cholangiocarcinoma is a malignancy arising from the biliary tract epithelium. These tumors are often clinically advanced at the time of presentation, and the prognosis is very poor with a short overall survival. Treatment is generally limited to surgical resection, which is associated with a high degree of morbidity, and palliative chemotherapy regimens. Therefore, additional treatment options are eagerly sought.
Rearrangement of the FGFR2 gene region has been identified in a subset of cholangiocarcinomas. These rearrangements result in overexpression of FGFR2, which offers the possibility of using targeted FGFR2-inhibitor therapy for treatment. FGFR2 rearrangements have also been identified in a number of other cancers including bladder, thyroid, oral cavity, and brain.
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 cutoff for the FGFR2 fluorescence in situ hybridization (FISH) probe set.
A positive result is consistent with the presence of an FGFR2 rearrangement and likely reflects FGFR2 fusion with a partner gene. The significance of this FISH result is dependent on additional clinical and pathologic features.
A negative result does not exclude the presence of a neoplastic disorder.
Clinical Reference
1. Mitesh BJ, Champion MD, Egan JB, et al. Integrated Genomic Characterization Reveals Novel, Therapeutically Relevant Drug Targets in FGFR and EGFR Pathways in Sporadic Intrahepatic Cholangiocarcinoma. PLOS Genetics. 2014;10(2):e1004135
2. Graham RP, Barr Fritcher EG, Pestova E, et al. Fibroblast growth factor receptor 2 translocations in intrahepatic cholangiocarcinoma. Hum Pathol. 2014;45(8):1630-1638
3. Arai Y, Totoki Y, Hosoda F, et al. Fibroblast growth factor receptor 2 tyrosine kinase fusions define a unique molecular subtype of cholangiocarcinoma. Hepatology. 2014;59(4):1427-1434
4. Wu YM, Su F, Kalyana-Sundaram S, et al. Identification of targetable FGFR gene fusions in diverse cancers. Cancer Discov. 2013;3(6):636-647
5. Zou Y, Zhu K, Pang Y, et al. Molecular detection of FGFR2 rearrangements in resected intrahepatic cholangiocarcinomas: FISH could be an ideal method in patients with histological small duct subtype. J Clin Transl Hepatol. 2023;11(6):1355-1367
Day(s) Performed
Monday through Friday
CPT Code Information
88271x2, 88291 - DNA probe, each (first probe set), Interpretation and report
88271x2 - DNA probe, each; each additional probe set (if appropriate)
88271x1 - DNA probe, each; coverage for sets containing 3 probes (if appropriate)
88271x2 - DNA probe, each; coverage for sets containing 4 probes (if appropriate)
88271x3 - 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 |
|---|---|---|
| FGFR2 | FGFR2 (10q26.1), FISH, Ts | 95784-5 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 38094 | Result Summary | 50397-9 |
| 38095 | Interpretation | 69965-2 |
| 38096 | Result | 62356-1 |
| 38097 | Reason For Referral | 42349-1 |
| 38098 | Specimen | 31208-2 |
| 38099 | Source | 31208-2 |
| 38100 | Tissue ID | 80398-1 |
| 38101 | Method | 85069-3 |
| 38102 | Additional Information | 48767-8 |
| 38103 | Disclaimer | 62364-5 |
| 38104 | Released By | 18771-6 |
Test Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.Forms
If not ordering electronically, complete, print, and send an Oncology Test Request (T729) with the specimen.
Report Available
7 to 10 daysmcl-fish