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Test 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, 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 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

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 days
Mayo Clinic Laboratories | Gastroenterology Catalog Additional Information:

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