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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:

Specimen Type: Tissue block

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

 

Acceptable:

Specimen Type: Tissue slide

Slides: 1 Stained and 10 unstained

Collection Instructions: Submit 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.


Useful For

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

Additional Tests

Test ID Reporting Name Available Separately Always Performed
SLIRV Slide Review in MG No, (Bill Only) Yes

Testing Algorithm

When this test is ordered, slide review will always be performed at an additional charge.

Method Name

Sequence Capture 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 Special Container
Varies Ambient (preferred)
  Refrigerated 

Reference Values

An interpretive report will be provided.

Interpretation

The interpretation of molecular biomarker analysis includes an overview of the results and the associated diagnostic, prognostic, and therapeutic implications.

Clinical Reference

1. WHO Classification of Tumours Editorial Board. Female genital tumours. 5th ed. World Health Organization; 2020. WHO Classification of Tumours. Vol 4

2. WHO Classification of Tumours Editorial Board: Central nervous system tumours. 5th ed. World Health Organization; 2021. WHO Classification of Tumours. Vol 6

3. Strom SP. Current practices and guidelines for clinical next-generation sequencing oncology testing. Cancer Biol Med. 2016;13(1):3-11. doi:10.28092/j.issn.2095-3941.2016.0004

4. Spurr L, Li M, Alomran N, et al. Systematic pan-cancer analysis of somatic allele frequency. Sci Rep. 2018;8(1):7735. Published 2018 May 16. doi:10.1038/s41598-018-25462-0

5. Caroleo AM, De loris MA, Boccuto L, et al: DICER1 syndrome and cancer predisposition: From a rare pediatric tumor to lifetime risk. Front Oncol. 2021 Jan 21;10:614541

6. Li BK, Vasiljevic A, Dufour C, et al: Pineoblastoma segregates into molecular sub-groups with distinct clinico-pathologic features: a rare brain tumor consortium registry study. Acta Neuropathol. 2020 Feb;139(2):223-241

7. Koelsche C, Mynarek M, Schrimpf D, et al: Primary intracranial spindle cell sarcoma with rhabdomyosarcoma-like features share a highly distinct methylation profile and DICER1 mutations. Acta Neuropathol. 2018 Aug;136(2):327-337

8. de Kock L, Yoon JY, Apellaniz-Ruiz M, et al: Significantly greater prevalence of DICER1 alterations in uterine embryonal rhabdomyosarcoma compared to adenosarcoma. Mod Pathol. 2020 Jun;33:1207-1219

9. McCluggage WG, Apellaniz-Ruiz M, Chong AL, et al: Embryonal rhabdomyosarcoma of the ovary and fallopian tube: Rare neoplasms associated with germline and somatic DICER1 mutations. Am J Surg Pathol. 2020 Jun;44:738-747

10. de Kock L, Terzic T, McCluggage WG, et al: DICER1 mutations are consistently present in moderately and poorly differentiated sertoli-leydig cell tumors. Am J Surg Pathol. 2017 Sep;41:1178-1187

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

LOINC Code Information

Test ID Test Order Name Order LOINC Value
DICET DICER1 Mutation Analysis, Tumor 105585-4

 

Result ID Test Result Name Result LOINC Value
619668 Result 82939-0
619669 Interpretation 69047-9
619670 Additional Information 48767-8
619671 Specimen 31208-2
619672 Tissue ID 80398-1
619673 Method 48767-8
619674 Disclaimer 62364-5
619675 Released By 18771-6

Forms

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