Providing diagnostic information and guiding treatment primarily for patients with mammary analogue secretory carcinoma, secretory carcinoma of the breast, and infantile fibrosarcoma
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 |
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.
Fluorescence In Situ Hybridization (FISH)
12p deletion
ETV6 rearrangement
12p13.2
Mammary Analogue Secretory Carcinoma of Salivary glands
MASC
Secretory breast carcinoma
SBC
Infantile fibrosarcoma
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.
Tissue
Advise Express Mail or equivalent if not on courier service.
1. A pathology report is required in order for testing to be performed. Acceptable pathology reports include working drafts, preliminary pathology or surgical pathology reports.
2. 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.
Question ID | Description | Answers |
---|---|---|
CG977 | Reason for Referral |
Submit only 1 of the following specimens:
Specimen Type: Tissue
Container/Tube: Formalin-fixed, paraffin-embedded tumor tissue block
Specimen Type: Slides
Specimen Volume: Four consecutive, unstained, 5 micron-thick sections placed on positively charged slides and 1 hematoxylin and eosin-stained slide
If not ordering electronically, complete, print, and send an Oncology Test Request (T729) with the specimen
Two consecutive, unstained, 5- micron- thick sections placed on positively charged slides, and 1 hematoxylin and eosin-stained slide.
Specimen Type | Temperature | Time | Special Container |
---|---|---|---|
Tissue | Ambient (preferred) | ||
Refrigerated |
Providing diagnostic information and guiding treatment primarily for patients with mammary analogue secretory carcinoma, secretory carcinoma of the breast, and infantile fibrosarcoma
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.
ETV6 rearrangement is a recurrent abnormality in mammary analogue secretory carcinoma, secretory carcinoma of the breast, and infantile fibrosarcoma, but is not observed in tumors that share clinical and pathologic similarities.
An interpretive report will be provided.
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 ETV6 locus, which can be useful for diagnosis. A negative result suggests no rearrangement of the ETV6 gene region at 12p13.2.
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; however, nonformalin-fixed samples will not be rejected.
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.
FISH analysis was performed on 36 paraffin-embedded tissue samples and 25 noncancerous lymph node control specimens. Rearrangement of ETV6 was identified in 19 samples. The normal controls were used to generate a normal cutoff for this assay.
1. Skalova A: Mammary analogue secretory carcinoma of salivary gland origin: an update and expanded morphologic and immunohistochemical spectrum of recently described entity. Head Neck Pathol 2013 July;7:S30-S36
2. Makretsov N, He M, Hayes M, et al: A fluorescence in situ hybridization study of ETV6-NTRK3 fusion gene in secretory breast carcinoma. Genes Chromosomes Cancer 2004;40:152-157
3. Sheng WQ, Hisaoka M, Okamoto S, et al: Congenital-infantile fibrosarcoma. A clinicopathologic study of 10 cases and molecular detection pf the ETV6-NTRK3 fusion transcripts using paraffin-embedded tissues. Am J Clin Pathol 2001;115:348-355
4. Steelman C, Katzenstein H, Parham D, et al: Unusual presentation of congenital infantile fibrosarcoma in seven infants with molecular-genetic analysis. Fetal Pediatr Pathol 2011;30:329-337
5. Skalova A, Vanecek T, Sima R, et al: Mammary analogue secretory carcinoma of salivary glands, containing the ETV6-NTRK3 fusion gene: a hitherto undescribed salivary gland tumor entity. Am J Surg Pathol 2010;34(5):599-608
The test is performed using a laboratory-developed ETV6 (12p13.2) dual-color break-apart strategy probe (BAP). Formalin-fixed, paraffin-embedded tissues are cut at 5 microns and mounted on positively charged glass slides. The selection of tissue and the identification of target areas on the hematoxylin and eosin (H and E)-stained slide is performed by a pathologist. Using the H and E-stained slide as a reference, target areas are etched with a diamond-tipped etcher on the back of the unstained slide to be assayed. The probe set is hybridized to the appropriate target areas and 2 technologists each analyze 50 interphase nuclei (100 total) with the results expressed as the percent of abnormal nuclei.(Unpublished Mayo method).
Monday through Friday
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 US Food and Drug Administration.
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)
Test Id | Test Order Name | Order LOINC Value |
---|---|---|
ETV6F | ETV6 (12p13.2), FISH, Ts | 101380-4 |
Result Id | Test Result Name |
Result LOINC Value
Applies only to results expressed in units of measure originally reported by the performing laboratory. These values do not apply to results that are converted to other units of measure.
|
---|---|---|
46837 | Result Summary | 50397-9 |
46838 | Interpretation | 69047-9 |
46839 | Result | 62356-1 |
46840 | Reason For Referral | 42349-1 |
46841 | Specimen | 31208-2 |
46842 | Source | 39111-0 |
46843 | Tissue ID | 80398-1 |
46844 | Method | 85069-3 |
46845 | Additional Information | 48767-8 |
46846 | Disclaimer | 62364-5 |
46847 | Released By | 18771-6 |