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Test Code DICET DICER1 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 following 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

Identifying specific mutations within the DICER1 gene to assist in tumor diagnosis/classification

Method Name

Sequence Capture and Targeted Next-Generation Sequencing (NGS)

Reporting Name

DICER1 Mutation 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

This test uses formalin-fixed paraffin-embedded tissue or cytology slides to assess for somatic mutations involving the DICER1 gene known to be associated with multiple tumor types. DICER1 mutations are a diagnostic marker of embryonal rhabdomyosarcoma and Sertoli-Leydig cell tumors.(1) In central nervous system tumors, DICER1 mutations are a diagnostic molecular biomarker for primary intracranial sarcoma, DICER1-mutant, embryonal tumor with multilayered rosettes and pituitary blastoma.(2) DICER1 mutations also occur in a subset of pineoblastoma, typically in the context of DICER1 tumor-predisposition syndrome. DICER1 tumor-predisposition syndrome is an inherited predisposition to pleuropulmonary blastoma, cystic nephroma, Wilms' Tumor, anaplastic sarcoma of the kidney, ovarian Sertoli-Leydig cell tumor, and cervical embryonal rhabdomyosarcoma.

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.