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Test ID: JAK2P JAK2 (9p24.1) Rearrangement, Hematologic Disorders, FISH, Tissue


Shipping Instructions


Advise Express Mail or equivalent if not on courier service.



Necessary Information


Provide a reason for testing and pathology report 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.



Specimen Required


Submit only 1 of the following specimens:

 

Specimen Type: Tissue

Preferred: Tissue block

Collection Instructions: Submit a formalin-fixed, paraffin-embedded (FFPE) tumor tissue block. Blocks prepared with alternative fixation methods may be acceptable; provide fixation method used.

 

Acceptable: Slides

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


Useful For

Providing diagnostic information for hematologic malignancies

 

Aiding in the determination of whether a targeted JAK2 inhibitor could be useful for therapy

Reflex Tests

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

Testing Algorithm

This test does not include a pathology consult. If a pathology consultation is requested, PATHC / Pathology Consultation should be ordered, and the appropriate fluorescence in situ hybridization (FISH) test will be performed at an additional charge.

 

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.

 

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

JAK2 (9p24.1) Rearrangement,FISH,Ts

Specimen Type

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

The JAK2 gene codes for a protein tyrosine kinase involved in cytokine signaling. Chromosomal translocations involving JAK2 can lead to the formation of chimeric oncoproteins in hematologic malignancies. Rearrangements involving 9p24.1 are rare abnormalities seen in various hematologic diseases and are typically aggressive. Identification of opportunities to apply targeted therapy with JAK2 inhibitors can be helpful for patients with JAK2 rearrangements.

Reference Values

An interpretive report will be provided.

Interpretation

A positive result is detected when the percent of cells with an abnormality exceeds the normal cutoff for the probe set.

 

A positive result suggests rearrangement of the JAK2 locus. A negative result suggests no rearrangement of the JAK2 gene region at 9p24.1.

Clinical Reference

1. Chase A, Bryant C, Score J, et al: Ruxolitinib as potential targeted therapy for patients with JAK2 rearrangements. Haematologica. 2013;98(3):404-408

2. Van Roosbroeck K, Cox L, Tousseyn T, et al: JAK2 rearrangements, including the novel SEC31A-JAK2 fusion, are recurrent in classical Hodgkin lymphoma. Blood. 2011;117(15):4056-4064

3. Roberts K, Li Y, Payne-Turner D, et al: Targetable kinase-activating lesions in Ph-like acute lymphoblastic leukemia. N Engl J Med. 2014;371:1005-101

4. Springuel L, Renauld JC, Knoops L: JAK kinase targeting in hematologic malignancies: a sinuous pathway from identification of genetic alteration towards clinical indications. Haematologica. 2015;100:1240-1253

5. Reshmi SC, Harvey RC, Roberts KG, et al: Targetable kinase gene fusions in high-risk B-ALL: A study from the Children's Oncology Group. Blood. 2017;129:3352-3361

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

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
JAK2P JAK2 (9p24.1) Rearrangement,FISH,Ts In Process

 

Result ID Test Result Name Result LOINC Value
606822 Result Summary 62357-9
606823 Interpretation 69965-2
606824 Result 62356-1
GC052 Reason for Referral 42349-1
606825 Specimen 31208-2
606826 Source 31208-2
606827 Tissue ID 80398-1
606828 Method 85069-3
606829 Additional Information 48767-8
606830 Disclaimer 62364-5
606831 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 | Genetics and Genomics Additional Information:

mcl-fish