Test ID: FGFR1
FGFR1, 8p11.2 Rearrangement, FISH
NY State Approved 
Indicates the status of NY State approval and if the test is orderable for NY State clients.
Useful For Suggests clinical disorders or settings where the test may be helpful
Aids in identifying patients with myeloproliferative syndromes and the t(8;var)(p11.2;var) translocation who therefore are likely resistant to current chemotherapies
Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test
Method Name A short description of the method used to perform the test
Fluorescence In Situ Hybridization (FISH)
Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name
Aliases Lists additional common names for a test, as an aid in searching
Eight p11 myeloproliferative syndrome
EMS
Specimen Type Describes the specimen type needed for testing
Specimen Required Defines the optimal specimen. This field describes the type of specimen required to perform the test and the preferred volume to complete testing. The volume allows automated processing, fastest throughput and, when indicated, repeat or reflex testing.
Please 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.
Forms: Cytogenetics Hematologic FISH Panel Patient Information Sheet (Supply T603) in Special Instructions
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 Defines the amount of specimen required to perform an assay once, including instrument and container dead space. Submitting the minimum specimen volume makes it impossible to repeat the test or perform confirmatory or perform reflex testing. In some situations, a minimum specimen volume may result in a QNS (quantity not sufficient) result, requiring a second specimen to be collected.
Reject Due To Identifies specimen types and conditions that may cause the specimen to be rejected
| Hemolysis | NA |
| Lipemia | NA |
| Icterus | NA |
| Other | NA |
Specimen Stability Information Provides a description of the temperatures required to transport a specimen to the laboratory. Alternate acceptable temperature(s) are also included.
| Specimen Type | Temperature | Time |
|---|---|---|
| Varies | Ambient (preferred) | |
| Refrigerated | ||
Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
The gene for fibroblast growth factor receptor 1 (FGFR1) is located at 8p11.2 and rearrangements of FGFR1 are found in stem cell myeloproliferative disorders involving both lymphoid and myeloid lineages. The stem cell myeloproliferative disorders with FGFR1 rearrangements are also called 8p11 (eight p11) myeloproliferative syndromes (EMS) and have variable presentations. EMS often transform rapidly into myelomonocytic leukemia and generally have a poor outcome due to resistance to current chemotherapies, including imatinib; median survival is about 12 months.
All translocations affecting FGFR1 have a similar structure with a 5' gene partner translocating to the 3' FGFR1 at exon 9. The fusion transcripts encode large proteins containing the N-terminus of the translocation partner, and the tyrosine kinase domain of FGFR1 in the C-terminus. Leukemogenesis is caused by inappropriate activation of FGFR1.
Reference Values Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.
An interpretive report will be provided.
Interpretation Provides information to assist in interpretation of the test results
A neoplastic clone is detected when the percent of cells with an abnormality exceeds the normal cutoff for any given probe.
The presence of a positive clone supports a diagnosis of malignancy.
The absence of an abnormal clone does not rule out the presence of neoplastic disorder.
Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances
This test is not approved by the FDA and it is best used as an adjunct to existing clinical and pathologic information.
Supportive Data
A blinded study using the FGFR1 break-apart probe set was performed on 44 fixed cell pellets from blood and bone marrow specimens, 19 patients with t(8p11.2;var) by chromosome analysis and 25 normal control specimens. Rearrangement of FGFR1 was identified in 17 of 19 neoplastic specimens. The FGFR1 gene rearrangement was not detected in any of the 25 control specimens. The normal controls were used to generate a normal cutoff for this assay.
Clinical Reference Provides recommendations for further in-depth reading of a clinical nature
1. Huret JL: FGFR1 (fibroblast growth factor receptor 1). Atlas Genet Cytogenet Oncol Haematol December 2008, Available from URL: http://AtlasGeneticsOncology.org/Genes/FGFR1113.html Accessed 4/6/2011
2. Patnaik MM, Gangat N, Knudson RA, et al: Chromosome 8p11.2 translocations: prevalence, FISH analysis for FGFR1 and MYST3, and clinicopathologic correlates in a consecutive cohort of 13 cases from a single institution. Am J Hematol 2010;85:238-242
3. WHO Classification of Tumours of Hematopoietic and Lymphoid Tissues. Edited by SH Swerdlow, E Campo, NL Harris, et al. Published by the International Agency for Research on Cancer (IARC), 150 cours Albert Thomas, 69372 Lyon Cedex 08, France, 2008, pp 72-73
Method Description Describes how the test is performed and provides a method-specific reference
The test uses a laboratory-developed FGFR1 dual-color, break-apart rearrangement probe set that consists of 2 probes that flank the FGFR1 gene region at 8p11.2. The probe set is hybridized and 2 technologists analyze 100 interphase nuclei each (200 total) with the results expressed as percent of abnormal nuclei.(Unpublished Mayo method)
Day(s) and Time(s) Test Performed Outlines the days and times the test is performed. This field reflects the day and time the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time required before the test is performed. Some tests are listed as continuously performed, which means assays are performed several times during the day.
Samples processed Monday through Sunday. Results reported Monday through Friday, 8 a.m.-5 p.m. CST.
Analytic Time Defines the amount of time it takes the laboratory to setup and perform the test. This is defined in number of days. The shortest interval of time expressed is "same day/1 day," which means the results may be available the same day that the sample is received in the testing laboratory. One day means results are available 1 day after the sample is received in the laboratory.
Maximum Laboratory Time Defines the maximum time from specimen receipt at Mayo Medical Laboratories until the release of the test result
Specimen Retention Time Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded
Performing Laboratory Location The location of the laboratory that performs the test
Test Classification Provides information regarding the medical device classification for laboratory test kits and reagents. Tests may be classified as cleared or approved by the US Food and Drug Administration (FDA) and used per manufacturer's instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR), Investigation Use Only (IUO) product, or a Research Use Only (RUO) product.
CPT Code Information Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Medical Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.
88271 x 2-Molecular cytogenetics (eg, FISH), each probe
88275-Interphase in situ hybridization (100-300 cells)
88291-Cytogenetics and molecular cytogenetics, interpretation and report
LOINC® Code Information Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the result codes returned for this test or profile.
| Result ID | Reporting Name | LOINC Code |
|---|---|---|
| 34391 | Specimen | In Process |
| 34392 | Specimen ID | In Process |
| CG605 | Source | N/A |
| 34394 | Order Date | N/A |
| CG606 | Reason For Referral | 42349-1 |
| 34396 | Method | In Process |
| 34397 | Result | In Process |
| 34398 | Interpretation | In Process |
| 34399 | Amendment | In Process |
| 34400 | Consultant | In Process |
| 34401 | Released Date | N/A |
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