Test Id : JMDMF
MDM2 (12q15) Amplification, Well-Differentiated Liposarcoma/Atypical Lipomatous Tumor, FISH, Tissue
Useful For
Suggests clinical disorders or settings where the test may be helpful
Supporting a diagnosis of well-differentiated liposarcoma/atypical lipomatous tumor
Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
The test includes a charge for technical application and professional interpretation of results.
Method Name
A short description of the method used to perform the test
Fluorescence In Situ Hybridization (FISH)
NY State Available
Indicates the status of NY State approval and if the test is orderable for NY State clients.
Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test
Aliases
Lists additional common names for a test, as an aid in searching
Atypical Lipomatous Tumor
Carboxypeptidase M (CPM)
Lipoma
Osteosarcoma
Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
The test includes a charge for technical application and professional interpretation of results.
Specimen Type
Describes the specimen type validated for testing
Tissue
Shipping Instructions
Advise Express Mail or equivalent if not on courier service.
If sending a paraffin block, ship with an icepack during warm seasons.
Necessary Information
1. A pathology report is required for testing to be performed. If not provided, appropriate testing and/or interpretation may be compromised or delayed. Acceptable pathology reports include working drafts, preliminary pathology, or surgical pathology reports.
2. The following information must be included in the report provided:
-Patient name
-Block number - must be on all blocks, slides, and paperwork
-Date of collection
-Tissue source
3. A reason for testing must be provided. If this information is not provided, an appropriate indication for testing may be entered by Mayo Clinic Laboratories.
Specimen Required
Defines the optimal specimen required to perform the test and the preferred volume to complete testing
Submit only 1 of the following specimens:
Preferred:
Specimen Type: Tissue block
Collection Instructions: Submit a formalin-fixed, paraffin-embedded tumor tissue block. Blocks prepared with alternative fixation methods are not accepted; provide fixation method used.
Acceptable:
Specimen Type: Tissue slides
Slides: 1 Hematoxylin and eosin-stained and 2 unstained
Collection Instructions: Submit 1 slide stained with hematoxylin and eosin and 2 consecutive, unstained, positively charged, unbaked slides with 4 to 5-micron-thick sections of the tumor tissue.
Forms
If not ordering electronically, complete, print, and send a Molecular Pathology Test Request (T726) with the specimen.
Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the testing laboratory. The minimum volume is sufficient for one attempt at testing.
Slides: 1 hematoxylin and eosin-stained and 1 unstained
Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected
| Decalcified specimens | Reject |
Specimen Stability Information
Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Tissue | Ambient (preferred) | ||
| Refrigerated | |||
Useful For
Suggests clinical disorders or settings where the test may be helpful
Supporting a diagnosis of well-differentiated liposarcoma/atypical lipomatous tumor
Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
The test includes a charge for technical application and professional interpretation of results.
Clinical Information
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
Differential diagnosis of well-differentiated liposarcoma/atypical lipomatous tumor:
The histological discrimination of well-differentiated liposarcoma/atypical lipomatous tumor (WDL/ALT) from lipoma can be diagnostically challenging. However, standard cytogenetic identification of ring and giant rod chromosomes strongly support the diagnosis of WDL/ALT. These abnormal chromosomes are mainly composed of amplified sequences derived from chromosome bands 12q13-15 and contain several amplified genes including MDM2, CPM, CDK4, and TSPAN31. MDM2 is amplified in greater than 99% of WDL and up to 30% of other types of sarcomas.
Differential diagnosis of osteosarcoma:
The histological discrimination of parosteal or low-grade central osteosarcoma from other morphologically similar but clinically distinct entities can be difficult. Amplification of genomic material derived from chromosome 12q13-15, which contains several genes including MDM2, has been shown to be a recurrent finding in a large proportion (67%-100%) of parosteal and central low-grade osteosarcomas. Therefore, the detection of MDM2 gene amplification by fluorescence in situ hybridization may be a useful adjunct to support a diagnosis of low-grade central or parosteal osteosarcoma in the proper histopathologic context. Amplifications of 12q13-15 (including MDM2) are less common in conventional high-grade osteosarcoma, estimated to occur in approximately 5% to 10% of tumors.
Reference Values
Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.
An interpretive report will be provided.
Interpretation
Provides information to assist in interpretation of the test results
Differential diagnosis of well-differentiated liposarcoma/atypical lipomatous tumor:
A neoplastic clone is detected when the percentage of cells with an abnormality exceeds the normal reference range for the MDM2 fluorescence in situ hybridization (FISH) probe (positive result). A positive result is consistent with amplification of the MDM2 gene locus (12q15) and supports the diagnosis of well-differentiated liposarcoma/atypical lipomatous tumor (WDL/ALT). A negative result is consistent with absence of amplification of the MDM2 gene locus (12q15). However, negative results do not exclude the diagnosis of WDL/ALT. Amplification varies in individual tumors and among different cells in the same tumor.
Differential diagnosis of osteosarcoma:
A positive result is consistent with amplification of the MDM2 gene locus (12q15) and supports the diagnosis of parosteal osteosarcoma or low-grade central osteosarcoma. A negative result indicates an absence of amplification of the MDM2 gene locus (12q15). However, negative results do not exclude the diagnosis of low-grade central osteosarcoma or parosteal osteosarcoma.
Cautions
Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances
This test is not approved by the US Food and Drug Administration, and it is best used as an adjunct to existing clinical and pathologic information.
Fixatives other than formalin (eg, Prefer, Bouin) may not be successful for fluorescence in situ hybridization (FISH) assays; Optimum fixation should be performed in 10% neutral buffered formalin. Non-formalin-fixed samples will be rejected.
Paraffin-embedded tissues that have been decalcified may not be successful for FISH analysis. Decalcified samples will be rejected.
Clinical Reference
Recommendations for in-depth reading of a clinical nature
1. Erickson-Johnson MR, Seys AR, Roth CW, et al. Carboxypeptidase M: a biomarker for the discrimination of well-differentiated liposarcoma from lipoma. Mod Pathol. 2009;22(12):1541-1547
2. Jacob E, Erickson-Johnson MR, Wang X, et al. Assessment of MDM2 amplification using fluorescence in situ hybridization on paraffin embedded tissues discriminates atypical lipomatous tumors from lipomas. Mod Pathol. 2006;19:13A
3. He X, Pang Z, Zhang X, et al. Consistent Amplification of FRS2 and MDM2 in Low-grade Osteosarcoma: A genetic study of 22 cases with clinicopathologic analysis. Am J Surg Pathol. 2018;42(9):1143-1155
4. Duhamel LA, Ye H, Halai D, et al. Frequency of Mouse Double Minute 2 (MDM2) and Mouse Double Minute 4 (MDM4) amplification in parosteal and conventional osteosarcoma subtypes. Histopathology. 2012;60(2):357-359
5. Dujardin F, Binh MB, Bouvier C, et al. MDM2 and CDK4 immunohistochemistry is a valuable tool in the differential diagnosis of low-grade osteosarcomas and other primary fibro-osseous lesions of the bone. Mod Pathol. 2011;24(5):624-637
6. Fletcher DM, Bridge JA, Hogendoorn PCW, Mertens F eds. WHO Classification of Tumours of Soft Tissue and Bone. International Agency for Research on Cancer; 2013
Method Description
Describes how the test is performed and provides a method-specific reference
This test is performed using commercially available MDM2 (12q15) and chromosome 12 centromere (D12Z3) probes. Formalin-fixed, paraffin-embedded tissues are cut at 4 to 5 microns and mounted on positively charged glass slides. The selection of tissue and the identification of target areas on the hematoxylin and eosin (H and E)-stained slide is performed by a pathologist. Using the H and E-stained slide as a reference, target areas are etched with a diamond-tipped etcher on the back of the unstained slide to be assayed. The probe set is hybridized to the appropriate target areas and 2 technologists each analyze 30 interphase nuclei (60 total) per probe set with the results expressed as a ratio MDM2:D12Z3 signals.(Unpublished Mayo method)
PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information
Day(s) Performed
Outlines the days the test is performed. This field reflects the day that the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time before the test is performed. Some tests are listed as continuously performed, which means that assays are performed multiple times during the day.
Monday through Friday
Report Available
The interval of time (receipt of sample at Mayo Clinic Laboratories to results available) taking into account standard setup days and weekends. The first day is the time that it typically takes for a result to be available. The last day is the time it might take, accounting for any necessary repeated testing.
Specimen Retention Time
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded
Performing Laboratory Location
Indicates the location of the laboratory that performs the test
Fees :
Several factors determine the fee charged to perform a test. Contact your U.S. or International Regional Manager for information about establishing a fee schedule or to learn more about resources to optimize test selection.
- Authorized users can sign in to Test Prices for detailed fee information.
- Clients without access to Test Prices can contact Customer Service 24 hours a day, seven days a week.
- Prospective clients should contact their account representative. For assistance, contact Customer Service.
Test Classification
Provides information regarding the medical device classification for laboratory test kits and reagents. Tests may be classified as cleared or approved by the US Food and Drug Administration (FDA) and used per manufacturer instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR) product.
This test was developed using an analyte specific reagent. Its performance characteristics were determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the US Food and Drug Administration.
CPT Code Information
Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Clinic Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.
CPT codes are provided by the performing laboratory.
CPT codes are provided by the performing laboratory.
88377
LOINC® Information
Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the order and results codes of this test. LOINC values are provided by the performing laboratory.
| Test Id | Test Order Name | Order LOINC Value |
|---|---|---|
| JMDMF | MDM2 (12q15) Amp, FISH, Tissue | 93808-4 |
| Result Id | Test Result Name |
Result LOINC Value
Applies only to results expressed in units of measure originally reported by the performing laboratory. These values do not apply to results that are converted to other units of measure.
|
|---|---|---|
| 616054 | Result Summary | 50397-9 |
| 616055 | Interpretation | 69965-2 |
| 616057 | Result | 62356-1 |
| 616058 | Reason for Referral | 42349-1 |
| 616059 | Specimen | 31208-2 |
| 616060 | Source | 31208-2 |
| 616061 | Tissue ID | 80398-1 |
| 616062 | Method | 85069-3 |
| 616063 | Additional Information | 48767-8 |
| 616064 | Disclaimer | 62364-5 |
| 616065 | Released By | 18771-6 |