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Test ID: MCFRC MayoComplete Renal Cell Carcinoma with Fibromyomatous Stroma Panel, 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 ELOC (TCEB1), TSC1, TSC2, and VHL genes to assist in tumor diagnosis/classification

 

Assisting in the clinical management of patients with renal cell carcinoma

Genetics Test Information

This test uses targeted next-generation sequencing to evaluate for somatic mutations within the ELOC (TCEB1), TSC1, TSC2, and VHL genes. See Targeted Genes and Methodology Details for MayoComplete Fibromyomatous Renal Cell Carcinoma for details regarding the targeted gene regions evaluated by this test.

 

This test is performed to evaluate for somatic mutations within solid tumor samples. This test does not assess for germline alterations within the genes listed.

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

MayoComplete Fibromyomatous RCC

Specimen Type

Varies

Specimen Minimum Volume

See Specimen Required

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Ambient (preferred)
  Refrigerated 

Clinical Information

A subset of renal cell carcinoma commonly referred to as "renal cell carcinoma with fibromyomatous stroma" frequently shows overlapping morphologic and immunophenotypic features. These tumors are thought to arise secondary to alterations of ELOC (also referred to as TCEB1) and other MTOR (mechanistic target of rapamycin) pathway genes, such as TSC1 and TSC2. Furthermore, these tumors are unrelated to clear cell renal cell carcinoma that typically show alterations of the VHL gene (including epigenetic silencing, truncating alterations, and deletions). The 5th edition of the World Health Organization classification of tumors recognizes ELOC (TCEB1)-mutated renal cell carcinoma as a molecularly defined entity.(1) This assay, performed using formalin-fixed paraffin-embedded tissue or cytology material, is therefore helpful for establishing an accurate diagnosis and to define prognosis. It is important to note that this assay does not distinguish between germline and somatic alterations.

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. Urinary and male genital tumors. 5th ed, World Health Organization; 2022. WHO Classification of Tumours. Vol 8

2. 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

3. 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

4. Shah RB. Renal cell carcinoma with fibromyomatous stroma-The whole story. Adv Anat Pathol. 2022;29(3):168-177

5. Trpkov K, Williamson SR, Gill AJ, et al: Novel, emerging and provisional renal entities: The genitourinary pathology society (GUPS) update on renal neoplasia. Mod Pathol. 2021;34(6):1167-1184

6. DiNatale RG, Gorelick AN, Makarov V, et al: Putative drivers of aggressiveness in TCEB1-mutant renal cell carcinoma: An emerging entity with variable clinical course. Eur Urol Focus. 2021;7(2):381-389

7. Shah RB, Stohr BA, Tu ZJ, et al: "Renal Cell carcinoma with leiomyomatous stroma" Harbor somatic mutations of TSC1, TSC2, MTOR, and/or ELOC (TCEB1): clinicopathologic and molecular characterization of 18 sporadic tumors supports a distinct entity. Am J Surg Pathol. 2020;44(5):571-581.

8. Gupta S, Stanton ML, Reynolds JP, et al: Reprint of: lessons from histopathologic examination of nephrectomy specimens in patients with tuberous sclerosis complex: cysts, angiomyolipomas & renal cell carcinoma. Hum Pathol. 2023;133:136-152

Day(s) Performed

Monday through Friday

Report Available

12 to 20 days

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

81406

81407

81404

81479 (if appropriate for government payers)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
MCFRC MayoComplete Fibromyomatous RCC 105591-2

 

Result ID Test Result Name Result LOINC Value
619614 Result 82939-0
619615 Interpretation 69047-9
619616 Additional Information 48767-8
619617 Specimen 31208-2
619618 Tissue ID 80398-1
619619 Method 48767-8
619620 Disclaimer 62364-5
619621 Released By 18771-6

Forms

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

Mayo Clinic Laboratories | Genetics and Genomics Additional Information:

mcl-moltechtestmenu; mcl-oncology