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Test ID: FGF1F FGFR1 (8p11.2) Amplification, FISH, Tissue

Useful For

Providing prognostic information and guiding treatment primarily for patients with squamous cell carcinoma of the lung, breast, esophagus, thymus, and other locations

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

FGFR1 (8p11.2) Amp, FISH, Ts

Specimen Type

Tissue


Ordering Guidance


This test does not include a pathology consultation. If a pathology consultation is requested, order PATHC / Pathology Consultation, and appropriate testing will be added at the discretion of the pathologist and performed at an additional charge.

 

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


1. A pathology report is required for testing to be performed. If not provided, appropriate testing and/or interpretation may be compromised or delayed. Acceptable pathology reports include working drafts, preliminary pathology, or surgical pathology reports.

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

Two consecutive, unstained, 5 micron-thick sections placed on positively charged slides, and 1 hematoxylin and eosin-stained slide.

Specimen Stability Information

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

Clinical Information

Fibroblast growth factor receptor 1 (FGFR1) is a receptor tyrosine kinase.  FGFR1 overexpression or amplification in squamous cell carcinoma is associated with tumor growth. Studies have shown overexpression or amplification of FGFR1 to be sensitive to FGFR1-tyrosine kinase inhibitors, and FGFR1 inhibitors may be a promising therapeutic option. Therefore, patients with FGFR1 amplification may be candidates for FGFR1 tyrosine kinase inhibitor therapies.

Reference Values

An interpretive report will be provided.

Interpretation

FGFR1 will be clinically interpreted as positive or negative.

 

The FGFR1 locus is reported as amplified (positive) when the FGFR1:D8Z2 ratio is greater than 2.0 or an average of 6 or more copies of the FGFR1 probe are observed per tumor nucleus.

 

A tumor with an FGFR1:D8Z2 ratio less than or equal to 2.0 and having an average of less than 6 copies of FGFR1 per tumor nucleus is considered negative for amplification of the FGFR1 locus.

 

A negative result does not exclude the presence of a neoplastic disorder.?

Clinical Reference

1. Schultheis AM, Bos M, Schmitz K, et al. Fibroblast growth factor receptor 1 (FGFR1) amplification is a potential therapeutic target in small-cell lung cancer. Mod Pathol. 2014;27(2):214-212

2. Heist RS, Mino-Kenudson M, Sequist LV, et al. FGFR1 amplification in squamous cell carcinoma of the lung. J Thorac Oncol. 2012;7(12):1775-1780

3. Weis J, Sos ML, Seidel D, et al. Frequent and focal FGFR1 amplification associates with therapeutically tractable FGFR1 dependency in squamous cell lung cancer. Sci Transl Med. 2010;2(62):62ra93

4. Craddock KJ, Ludkovski O, Sykes J, et al. Prognostic value of fibroblast growth factor receptor 1 gene locus amplification in resected lung squamous cell carcinoma. J Thorac Oncol. 2013;8(11):1371-1377

5. Schildhaus HU, Heukamp LC, Merkelbach-Bruse S, et al. Definition of a fluorescence in-situ hybridization score identifies high- and low-level FGFR1 amplification types in squamous cell lung cancer. Mod Pathol. 2012;25(11):1473-1480

6. Drago JZ, Formisano L, Juric D, et al. FGFR1 amplification mediates endocrine resistance but retains TORC sensitivity in metastatic hormone receptor–positive (HR+) breast cancer. Clinical Cancer Research. 2019;25(21):6443-51

7. Andre F, Bachelot T, Campone M, et al. Targeting FGFR with dovitinib (TKI258): preclinical and clinical data in breast cancer. Clin Cancer Res. 2013;19(13):3693-702

Day(s) Performed

Monday through Friday

Report Available

7 to 10 days

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.

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)        

LOINC Code Information

Test ID Test Order Name Order LOINC Value
FGF1F FGFR1 (8p11.2) Amp, FISH, Ts 78915-6

 

Result ID Test Result Name Result LOINC Value
55213 Result Summary 50397-9
55214 Interpretation 69965-2
55216 Result 78915-6
CG939 Reason for Referral 42349-1
55217 Specimen 31208-2
55218 Source 31208-2
55219 Tissue ID 80398-1
55220 Method 85069-3
55221 Additional Information 48767-8
55222 Disclaimer 62364-5
55225 Released By 18771-6

Forms

If not ordering electronically, complete, print, and send an Oncology Test Request (T729) with the specimen.

Mayo Clinic Laboratories | Genetics and Genomics Additional Information:

mcl-fish