Test Catalog

Test ID: ETV6F    
ETV6 (12p13.2) Rearrangement, FISH, Tissue

Useful For Suggests clinical disorders or settings where the test may be helpful

Providing diagnostic information and guiding treatment primarily for patients with mammary analogue secretory carcinoma, secretory carcinoma of the breast, and infantile fibrosarcoma

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

This test does not include a pathology consult. If a pathology consultation is requested, PATHC / Pathology Consultation should be ordered and the appropriate FISH test will be ordered and 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.

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

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.

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 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.

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 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.

Supportive Data

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.

Clinical Reference Recommendations for in-depth reading of a clinical nature

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