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Test Code MPCDS mSMART, Plasma Cell Proliferative Disorder, FISH, Bone Marrow


Specimen Required


Only orderable as part of a profile. For more information see MSMRT / Mayo Algorithmic Approach for Stratification of Myeloma and Risk-Adapted Therapy Report, Bone Marrow.

 

Specimen Type: Redirected bone marrow

Preferred: Yellow top (ACD)

Acceptable: Lavender top (EDTA) or green top (heparin)

Specimen Volume: 4 mL


Useful For

Detecting, at diagnosis, recurrent common high-risk chromosome abnormalities associated multiple myeloma or other plasma cell proliferative disorders, using a laboratory-designated probe set algorithm

 

Identifying prognostic markers associated multiple myeloma or other plasma cell proliferative disorders

Testing Algorithm

This test includes a charge for the probe application, analysis, and professional interpretation of results for 1 probe set (2 individual fluorescence in situ hybridization [FISH] probes) on pre-sorted plasma cells. Additional charges will be incurred for all reflex or additional probe sets performed. Analysis charges will be incurred based on the number of cells analyzed per probe set. If an insufficient number of plasma cells are available for analysis, no analysis charges will be incurred.

 

This test is performed using either the diagnostic or follow-up analysis algorithm.

 

If sufficient plasma cells are identified, the diagnostic plasma cell FISH panel includes testing for the following abnormalities using the FISH probes listed:

1p loss/1q gain, CDKN2C/1q22 probe set

t(8q24.21;var) or MYC rearrangement, MYC break-apart probe set

t(14q32;var) or IGH rearrangement, IGH break-apart probe set

-17/17p-, TP53/D17Z1 probe set

 

If an IGH rearrangement is identified, appropriate reflex testing will be performed in an attempt to identify the translocation partner using the FISH probes listed:

t(4;14)(p16.3;q32) IGH::FGFR3 fusion, FGFR3/IGH probe set

t(6;14)(p21;q32) IGH::CCND3 fusion, CCND3/IGH probe set

t(11;14)(q13;q32) or IGH::CCND1 fusion, CCND1/IGH probe set

t(14;16)(q32;q23) IGH::MAF fusion, IGH/MAF probe set

t(14;20)(q32;q12) IGH::MAFB fusion, IGH/MAFB probe set

 

Hyperdiploidy, as determined by flow cytometry, will be incorporated into the final interpretation. For samples with an unsuccessful flow evaluation for hyperdiploidy and sufficient plasma cells, FISH testing for the following abnormalities will be performed using the probes listed:

+3 (trisomy 3) and/or +7 (trisomy 7), D3Z1/D7Z1 probe set

+9 (trisomy 9) and/or +15 (trisomy 15), D9Z1/D15Z4 probe set

 

If sufficient plasma cells are identified, the follow-up plasma cell FISH panel includes testing for the following abnormalities using the FISH probes listed:

1p deletion/1q gain, CDKN2C/1q22 probe set

t(8q24.21;var) or MYC rearrangement, MYC break-apart probe set

-17/17p-, TP53/D17Z1 probe set

 

If no abnormalities are observed in the follow-up myeloma FISH panel, reflex testing may be performed to identify the following high-risk abnormalities, if originally identified in the diagnostic specimen, using the probes listed:

t(4;14)(p16.3;q32) IGH::FGFR3 fusion, FGFR3/IGH probe set

t(14;16)(q32;q23) IGH::MAF fusion, IGH/MAF probe set

t(14;20)(q32;q12) IGH::MAFB fusion, IGH/MAFB probe set

 

Follow-up testing is determined by the results of previous MPCDS / mSMART, Plasma Cell Proliferative Disorder, FISH, Bone Marrow testing, reported at this laboratory.

 

Appropriate ancillary probes may be performed at consultant discretion to render comprehensive assessment. Any additional probes will have the results included within the final report and will be performed at an additional charge.

Method Name

Only orderable as part of a profile. For more information see MSMRT / Mayo Algorithmic Approach for Stratification of Myeloma and Risk-Adapted Therapy Report, Bone Marrow.

 

Fluorescence In Situ Hybridization (FISH)

Reporting Name

mSMART Eval, PCPDs, FISH

Specimen Type

Bone Marrow

Specimen Minimum Volume

2 mL

Specimen Stability Information

Specimen Type Temperature Time
Bone Marrow Ambient (preferred)
  Refrigerated 

Reject Due To

All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

Clinical Information

Multiple myeloma is a hematologic neoplasm that generally originates in the bone marrow and develops from malignant plasma cells. There are 4 main categories of plasma cell proliferative disorders: monoclonal gammopathy of undetermined significance (MGUS), monoclonal immunoglobulin deposition diseases (amyloidosis), plasmacytoma, and multiple myeloma. MGUS, which occurs in 3% to 4% of individuals over age 50 years, represents the identification of an asymptomatic monoclonal protein, yet approximately 1% per year will progress to multiple myeloma. Amyloidosis represents a rare group of deposition disorders including primary amyloidosis vs. light-chain and heavy-chain disease. Plasmacytomas represent isolated collections of bone or extramedullary plasma cells with a risk for development of multiple myeloma. Generalized bone pain, anemia, limb numbness or weakness, symptoms of hypercalcemia, and recurrent infections are all symptoms that may indicate multiple myeloma.

 

As myeloma progresses, the malignant plasma cells interfere with normal blood product formation in the bone marrow, resulting in anemia and leukopenia. Myeloma also causes an overstimulation of osteoclasts, causing excessive breakdown of bone tissue without the normal corresponding bone formation. These bone lesions are seen in approximately 66% of myeloma patients. In advanced disease, bone loss may reach a degree where the patient suffers fractures easily.

 

Multiple myeloma is increasingly recognized as a disease characterized by marked cytogenetic, molecular, and proliferative heterogeneity. This heterogeneity is manifested clinically by varying degrees of disease aggressiveness. Patients with more aggressive multiple myeloma experience suboptimal responses to some therapeutic approaches; therefore, identifying these patients is critically important for selecting appropriate treatment options.

Reference Values

Only orderable as part of a profile. For more information see MSMRT / Mayo Algorithmic Approach for Stratification of Myeloma and Risk-Adapted Therapy Report, Bone Marrow.

 

An interpretive report will be provided.

Interpretation

A neoplastic clone is detected when the percent of cells with an abnormality exceeds the normal reference range for any given probe set.

 

The absence of an abnormal clone does not rule out the presence of neoplastic disorder.

Day(s) Performed

Monday through Friday

Report Available

7 to 10 days

Specimen Retention Time

14 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

88271 x 2, 88274, 88291-FISH Probe, Analysis, Interpretation; 1 probe set

88271 x 2, 88274-FISH Probe, Analysis; each additional probe set (if appropriate)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
MPCDS mSMART Eval, PCPDs, FISH 93357-2

 

Result ID Test Result Name Result LOINC Value
606091 mSMART Result Summary 62357-9
606092 mSMART Evaluation 57802-1
606093 Interpretation 69965-2
606094 Result Table 93356-4
606095 Result 62356-1
606096 Reason for Referral 42349-1
606097 Specimen 31208-2
606098 Source 85298-8
606099 Method 85069-3
606100 Additional Information 48767-8
606101 Disclaimer 62364-5
606102 Released By 18771-6

Reflex Tests

Test ID Reporting Name Available Separately Always Performed
MPCDB Probe, Each Additional (MPCDS) No, (Bill Only) No