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Test ID: GISTP Gastrointestinal Stromal Tumor (GIST) Targeted Gene Panel, Next-Generation Sequencing, Tumor

Useful For

Diagnosis and management of patients with gastrointestinal stromal tumors

 

This test is not useful for assessment of hematologic malignancies or germline alterations.

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

Polymerase Chain Reaction (PCR)-Based Next-Generation Sequencing

Reporting Name

GIST Panel, Tumor

Specimen Type

Varies


Advisory Information


For KIT Asp816Val allelic variant analysis in mast cell disease, refer to KITAS / KIT Asp816Val Mutation Analysis, Qualitative PCR, Varies.



Necessary Information


Pathology report (final or preliminary) at minimum containing the following information must accompany specimen in order 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: tissue144 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 Special Instructions. In this document, the sizes are given as 4mm x 4mm x 10 slides as preferred: approximate/equivalent to 144 mm(2) and the minimum as 3mm x 1mm x 10 slides: approximate/equivalent to 36mm(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.

 

Specimen Type: Cytology slide (direct smears or ThinPrep)

Slides: 1 to 3 slides

Collection Instructions: Submit 1 to 3 slides stained and cover slipped with a preferred total minimum of 5000 total nucleated cells, minimum of 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.


Specimen Minimum Volume

See Specimen Required

Specimen Stability Information

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

Clinical Information

Targeted cancer therapies are defined as antibody or small molecule drugs that block the growth and spread of cancer by interfering with specific cell molecules involved in tumor growth and progression. Multiple targeted therapies have been approved by the Food and Drug Administration (FDA) for treatment of specific cancers. Molecular genetic profiling is often needed to identify targets amenable to targeted therapies and to minimize treatment costs and therapy-associated risks.

 

Next-generation sequencing has recently emerged as an accurate, cost-effective method to identify alterations across numerous genes known to be associated with response or resistance to specific targeted therapies. This test is a single assay that uses formalin-fixed paraffin-embedded tissue to assess for common variations in the KIT and PDGFRA genes known to be associated with gastrointestinal stromal tumors (GIST). The results of this test can be useful for assessing prognosis and guiding treatment of individuals with GIST.

Reference Values

An interpretative report will be provided.

Interpretation

An interpretive report will be provided.

Clinical Reference

1. Schildhaus HU, Cavlar T, Binot E, et al: Inflammatory fibroid polyps harbour mutations in the platelet-derived growth factor receptor alpha (PDGFRA) gene. J Pathol. 2008;216(2):176-182

2. Robson ME, Blogowski E, Sommer G, et al: Pleomorphic characteristics of a germ-line KIT mutation in a large kindred with gastrointestinal stromal tumors, hyperpigmentation, and dysphagia. Clin Cancer Res. 2004;10:1250-1254

3. Li FP, Fletcher JA, Heinrich MC, et al: Familial gastrointestinal stromal tumor syndrome: phenotypic and molecular features in a kindred. J Clin Oncol. 2005;23:2735-2743

4. Corless CL, Fletcher JA, Heinrich MC: Biology of gastrointestinal stromal tumors. J Clin Oncol. 2004;22:3813-3825

5. Debiec-Rychter M, Raf Sciot R, Le Cesne A, et al: KIT mutations and dose selection for imatinib in patients with advanced gastrointestinal stromal tumors. Eur J Cancer. 2006;42:1093-1103

6. Heinrich MC, Corless CL, Demetri GD, et al: Kinase mutations and imatinib mesylate response in patients with metastatic gastrointestinal stromal tumor. J Clin Oncol. 2003;21:4342-4349

7. Debiec-Rychter M, Dumez H, Judson I, et al: Use of c-KIT/PDGFRA mutational analysis to predict the clinical response to imatinib in patients with advanced gastrointestinal stromal tumors entered on phase I and II studies of the EORTC Soft Tissue and Bone Sarcoma Group. Eur J Cancer. 2004;40:689-695

8. El-Menyar A, Mekkodathil A, Al-Thani H. Diagnosis and management of gastrointestinal stromal tumors: An up-to-date literature review. J Can Res Ther. 2017;13:889-900

Day(s) and Time(s) Performed

Monday through Friday; Varies

Analytic Time

12 days

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

CPT Code Information

81272-KIT (v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog) (eg, gastrointestinal stromal tumor [GIST], acute myeloid leukemia, melanoma), gene analysis, targeted sequence analysis (eg, exons 8, 11, 13, 17, 18)

81314-PDGFRA (platelet-derived growth factor receptor alpha polypeptide) (eg, gastrointestinal stromal tumor [GIST]), gene analysis, targeted sequence analysis (eg, exons 12, 18)

88381-Microdissection, manual

LOINC Code Information

Test ID Test Order Name Order LOINC Value
GISTP GIST Panel, Tumor In Process

 

Result ID Test Result Name Result LOINC Value
54862 Result 82939-0
54863 Result Summary 50397-9
54864 Interpretation 69047-9
54865 Additional Information 48767-8
54867 Specimen 31208-2
54868 Source 31208-2
54869 Tissue ID 80398-1
54870 Released By 18771-6

Forms

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

Mayo Clinic Laboratories | Gastroenterology Catalog Additional Information:

mml-gi-pathology