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Test ID: MDM2F MDM2 (12q15) Amplification, Well-Differentiated Liposarcoma/Atypical Lipomatous Tumor, FISH, Tissue

Useful For

Supporting a diagnosis of well-differentiated liposarcoma/atypical lipomatous tumor

Reflex Tests

Test ID Reporting Name Available Separately Always Performed
_PBCT Probe, +2 No, (Bill Only) No
_PADD Probe, +1 No, (Bill Only) No
_PB02 Probe, +2 No, (Bill Only) No
_PB03 Probe, +3 No, (Bill Only) No
_IL25 Interphases, <25 No, (Bill Only) No
_I099 Interphases, 25-99 No, (Bill Only) No
_I300 Interphases, >=100 No, (Bill Only) No

Testing Algorithm

This test does not include a pathology consult. If a pathology consultation is requested, PATHC / Pathology Consultation should be ordered and the appropriate fluorescence in situ hybridization (FISH) test will be ordered and performed at an additional charge.

 

This test includes a charge for application of the first probe set (2 FISH probes) and professional interpretation of results.

 

Additional charges will be incurred for all reflex probes performed. Analysis charges will be incurred based on the number of cells analyzed per probe set. If no cells are available for analysis, no analysis charges will be incurred.

Method Name

Fluorescence In Situ Hybridization (FISH)

Reporting Name

MDM2 (12q15) Amp, FISH, Ts

Specimen Type

Tissue


Necessary Information


A reason for referral and pathology report are required in order for testing to be performed. Send information with specimen. Acceptable pathology reports include working drafts, preliminary pathology or surgical pathology reports.



Specimen Required


Submit only 1 of the following specimens:

 

Specimen Type: Tissue

Preferred: Tissue block

Collection Instructions: Submit a formalin-fixed, paraffin-embedded (FFPE) tumor tissue block. Blocks prepared with alternative fixation methods may be acceptable; provide fixation method used.

 

Acceptable: Slides

Collection Instructions: Four consecutive, unstained, 5 micron-thick sections placed on positively charged slides, and 1 hematoxylin and eosin-stained slide.


Specimen Minimum Volume

Two consecutive, unstained, 5- micron-thick sections placed on positively charged slides and 1 hematoxylin and eosin-stained slide.

Specimen Stability Information

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

Clinical Information

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 (FISH) 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 of 5% to 10% of tumors.

Reference Values

An interpretive report will be provided.

Interpretation

Differential diagnosis of well-differentiated liposarcoma/atypical lipomatous tumor:

A neoplastic clone is detected when the percent 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.

Clinical Reference

1. Erickson-Johnson MR, Seys AR, Roth CW, et al: Carboxypeptidase M: a biomarker for the discrimination of lipoma from liposarcoma. Mod Pathol. 2009 Dec;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 tissue 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 Sept;42(9):1143-1155

4. Duhamel LAE, 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 Jan;60(2):357-359

5. Dujardin F, Binh MBN, Bourvier 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 May;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

Day(s) and Time(s) Performed

Samples processed Monday through Sunday. Results reported Monday through Friday, 8 a.m.-5 p.m.

Analytic Time

7 days

Test Classification

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 U.S. Food and Drug Administration.

CPT Code Information

88271x2, 88291-DNA probe, each (first probe set), Interpretation and report

88271x2-DNA probe, each; each additional probe set (if appropriate)

88271x1-DNA probe, each; coverage for sets containing 3 probes (if appropriate)

88271x2-DNA probe, each; coverage for sets containing 4 probes (if appropriate)

88271x3-DNA probe, each; coverage for sets containing 5 probes (if appropriate)

88274 w/modifier 52-Interphase in situ hybridization, <25 cells, each probe set (if appropriate)

88274-Interphase in situ hybridization, 25 to 99 cells, each probe set (if appropriate)                                            

88275-Interphase in situ hybridization, 100 to 300 cells, each probe set (if appropriate)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
MDM2F MDM2 (12q15) Amp, FISH, Ts 93808-4

 

Result ID Test Result Name Result LOINC Value
54681 Result Summary 50397-9
54684 Interpretation 69965-2
54683 Result 62356-1
CG929 Reason For Referral 42349-1
54917 Specimen 31208-2
54686 Source 31208-2
54687 Tissue ID 80398-1
55132 Method 49549-9
55133 Additional Information 48767-8
53396 Disclaimer 62364-5
54688 Released By 19139-5
Mayo Clinic Laboratories | Cardiology Catalog Additional Information:

mml-cardio-ap