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Test Code CTNBT B-Catenin Mutation Analysis, Next-Generation Sequencing, Tumor


Ordering Guidance


Multiple oncology (cancer) gene panels are available. For more information see Hematology, Oncology, and Hereditary Test Selection Guide.



Necessary Information


A pathology report (final or preliminary), at minimum containing the following information, must accompany specimen for testing to be performed:

1. Patient name

2. Block number-must be on all blocks, slides, and paperwork (can be handwritten on the paperwork)

3. Tissue collection date

4. Source of the tissue



Specimen Required


This assay requires at least 20% tumor nuclei.

-Preferred amount of tumor area with sufficient percent tumor nuclei: tissue 216 mm(2)

-Minimum amount of tumor area: tissue 36 mm(2)

-These amounts are cumulative over up to 10 unstained slides and must have adequate percent tumor nuclei.

-Tissue fixation: 10% neutral buffered formalin, not decalcified

-For specimen preparation guidance, see Tissue Requirement for Solid Tumor Next-Generation Sequencing. In this document, the sizes are given as 4 mm x 4 mm x 10 slides as preferred: approximate/equivalent to 144 mm(2) and the minimum as 3 mm x 1 mm x 10 slides: approximate/equivalent to 36 mm(2)

 

Preferred: Submit 3, if available, or 2 of the following specimens.

Acceptable: Submit at least one of the following specimens.

 

Specimen Type: Tissue block
Collection Instructions
: Submit a formalin-fixed, paraffin-embedded tissue block with acceptable amount of tumor tissue.


Specimen Type:
Tissue slide
Slides
: 1 Hematoxylin and eosin stained and 10 unstained
Collection Instructions
:

Submit the followings slides:

1 Slide stained with hematoxylin and eosin 

AND

10 Unstained, nonbaked slides with 5-micron thick sections of the tumor tissue. 

Note: The total amount of required tumor nuclei can be obtained by scraping up to 10 slides from the same block.
Additional Information: Unused unstained slides will not be returned.

Specimen Type: Cytology slide (direct smears or ThinPrep)
Slides: 1 to 3 Slides
Collection Instructions:
Submit 1 to 3 slides stained and coverslipped with a preferred total of 5000 nucleated cells, or a minimum of at least 3000 nucleated cells.
Note:
Glass coverslips are preferred; plastic coverslips are acceptable but will result in longer turnaround times.
Additional Information
: Cytology slides will not be returned. An image of the slides will be stored per regulatory requirements.


Useful For

Distinguishing desmoid-type fibromatosis from other soft tissue tumors by assessing gene targets within the beta-catenin (CTNNB1) gene

Method Name

Sequence Capture and Targeted Next-Generation Sequencing (NGS)

Reporting Name

B-Catenin Mutations Analysis, Tumor

Specimen Type

Varies

Specimen Minimum Volume

See Specimen Required

Specimen Stability Information

Specimen Type Temperature Time
Varies Ambient (preferred)
  Refrigerated 

Reject Due To

All specimens will be evaluated at Mayo Clinic Laboratories for test suitability

Clinical Information

Desmoid-type fibromatosis is a locally invasive soft tissue tumor. The histological diagnosis of desmoid-type fibromatosis is challenging. Mutations in exon 3 of the beta-catenin (CTNNB1) gene have been identified in 50% to 87% of desmoid-type fibromatosis, including T41A (121 A>G), S45P (133 T>C), and S45F (134 C>T), but not in other soft tissue tumors. Patients harboring beta-catenin mutations may have a higher recurrence rate compared to the patients with wild-type beta-catenin. 

 

This test uses formalin-fixed paraffin-embedded tissue or cytology slides to assess for common somatic mutations in the beta-catenin gene known to be associated with desmoid-type fibromatosis. The results of this test can be useful for supporting a diagnosis of desmoid-type fibromatosis and predicting prognosis.

Reference Values

An interpretive report will be provided.

Day(s) Performed

Monday through Friday

Report Available

12 to 20 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

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

88381-Microdissection, manual

81479

Forms

If not ordering electronically, complete, print, and send an Oncology Test Request (T729) with the specimen.