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Test ID IRF4F Cutaneous Anaplastic Large Cell Lymphoma, 6p25.3 (DUSP22 or IRF4) Rearrangement, FISH, Tissue

Useful For

Providing potentially prognostic information in patients with documented systemic anaplastic lymphoma kinase-negative anaplastic large cell lymphoma

Reflex Tests

Test ID Reporting Name Available Separately Always Performed
_I099 Interphases, 25-99 No, (Bill Only) No
_I300 Interphases, ≥100 No, (Bill Only) No
_IL25 Interphases, <25 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
_PBCT Probe, +2 No, (Bill Only) No

Testing Algorithm

This test does not include a pathology consultation. If a pathology consultation is requested, 70012 / Pathology Consultation should be ordered and the appropriate FISH test will be ordered and performed at an additional charge. Mayo Hematopathology Consultants are involved in both the pre-analytic (tissue adequacy and probe selection, when applicable) and post-analytic (interpretation of FISH test results in context of specific case, when applicable) phases.

 

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.

 

See Evaluation of Potential Anaplastic Large Cell Lymphoma Cases in Special Instructions.

Method Name

Fluorescence In Situ Hybridization (FISH)

Reporting Name

DUSP22 (IRF4) (6p25.3), FISH, Ts

Specimen Type

Tissue

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: If not ordering electronically, complete, print, and send a Hematopathology/Cytogenetics Test Request Form (T726) with the specimen

(http://www.mayomedicallaboratories.com/it-mmfiles/hematopathology-request-form.pdf)

 

Advise Express Mail or equivalent if not on courier service.

 

Submit only 1 of the following specimens:

 

Specimen Type: Lymph node

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.

 

Specimen Type: Solid tumor

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.

Specimen Minimum Volume

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

Specimen Stability Information

Specimen Type Temperature Time
Tissue Ambient (preferred)
  Refrigerated 

Clinical Information

Anaplastic lymphoma kinase (ALK)-negative anaplastic large cell lymphoma (ALCL) is a systemic CD30-positive T-cell lymphoma that was included as a provisional entity in the 2008 World Health Organization (WHO) classification of hematopoietic neoplasms. By definition, ALK-negative ALCL resembles ALK-positive ALCL, but lacks ALK protein or ALK gene rearrangements. It affects predominantly adults with a male to female ratio of about 1.5 to 1. ALK-negative ALCL typically involves lymph nodes and sometimes extranodal sites. ALK-negative ALCL must be distinguished clinically from primary cutaneous ALCL, which also is usually ALK-negative. 

                                 

Recurrent rearrangements of the DUSP22(IRF4) (dual-specificity phosphatase-22,interferon regulatory factor-4) gene locus on 6p25.3 have been described in CD30-positive T-cell lymphomas and lymphoproliferative disorders, including systemic ALK-negative ALCL, primary cutaneous ALCL, and lymphomatoid papulosis. The presence of this rearrangement has potential prognostic significance in ALCL. Specifically, systemic ALK-negative ALCLs with rearrangements of DUSP22(IRF4), but without rearrangements of TP63 on 3q28 have been reported to be associated with favorable clinical outcomes similar to those in systemic ALK-positive ALCL. The frequency of these rearrangements in ALK-negative ALCL was reported to be 30% in a recent series; therefore, absence of a DUSP22(IRF4) rearrangement does not exclude ALK-negative ALCL. Because a similar frequency of this rearrangement has been reported in primary cutaneous ALCL (28% in 1 recent report), the presence of a DUSP22(IRF4) rearrangement does not distinguish between systemic ALK-negative ALCL and primary cutaneous ALCL, and does not eliminate the need for, or take precedence over, collecting a thorough clinical history and staging. 

 

This test does not distinguish between rearrangements localized to the DUSP22 gene and those localized to the IRF4 gene. IRF4 rearrangements are seen in rare CD30-negative T-cell lymphomas, a subset of multiple myelomas, and occasional B-cell lymphomas of various subtypes. Clinical utility for demonstrating their presence in these other neoplasms has not been established.

 

For other FISH testing for T-cell disorders in tissues, see:

-TP63F / Peripheral T-Cell Lymphoma (PTCL), TP63 (3q28) Rearrangement, FISH, Tissue

-TLYMF / T-Cell Lymphoma, FISH, Tissue

Reference Values

An interpretive report will be provided.

Cautions

This test is not approved by the US Food and Drug Administration and it is best used as an adjunct to existing clinical and pathologic information.

 

Fixatives other than formalin (eg, Prefer, Bouin) may not be successful for FISH assays.

 

Paraffin-embedded tissues that have been decalcified are generally unsuccessful for FISH analysis. The pathologist reviewing the hematoxylin and eosin-stained slide may find it necessary to cancel testing.

Day(s) Performed

Samples processed Monday through Sunday. Results reported Monday through Friday 8am-5pm CST

Report Available

7 days

Performing Laboratory

Mayo Medical Laboratories in Rochester

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. 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)     

88275 – Interphase in situ hybridization, 100 to 300 cells, each probe set (if appropriate

NY State Approved

Yes