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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

Aiding in the diagnosis of new cases of multiple myeloma or other plasma cell proliferative disorders as a part of a profile

 

Identifying prognostic markers based on the anomalies found

Testing Algorithm

This test is designed for diagnostic specimens from patients with multiple myeloma or other plasma cell proliferative disorders.

 

For diagnostic samples, all probes in the initial panel will be evaluated if sufficient plasma cells are identified. The initial panel includes testing for the following the probes listed:

17p-, TP53/D17Z1

1q gain, TP73/1q22

14q32 rearrangement, IGH break-apart

8q24.1 rearrangement, MYC break-apart

 

Based on the results from the initial panel, reflex testing may be performed to identify the following abnormalities using the probes listed:

t(11;14)(q13;q32), CCND1/IGH fusion

t(14;16)(q32;q23) IGH/MAF fusion

t(4;14)(p16.3;q32) FGFR3/IGH fusion

t(14;20)(q32;q12) IGH/MAFB fusion

t(6;14)(p21;q32) CCND3/IGH fusion

 

Hyperdiploidy will be evaluated and reported by flow cytometry as part of this evaluation and incorporated into the final interpretation. For samples with an unsuccessful flow evaluation for hyperdiploidy and with sufficient plasma cells, fluorescence in situ hybridization testing for the following abnormalities will be performed using the probes listed:

+3/+7, D3Z1/D7Z1

+9/+15, D9Z1/D15Z4

 

For specimens sent for follow-up testing after completion of initial testing, the following probes will be evaluated if sufficient plasma cells are identified:

17p-, TP53/D17Z1

1q gain, TP73/1q22

8q24.1 rearrangement, MYC break-apart

 

Based on the results from the initial follow-up panel, reflex testing may be performed to identify the following high- risk abnormalities that were originally identified in the diagnostic specimen, using the probes listed:

t(14;16)(q32;q23) IGH/MAF fusion

t(4;14)(p16.3;q32) FGFR3/IGH fusion

t(14;20)(q32;q12) IGH/MAFB fusion

If a diagnostic sample was uninformative for a probe set due to an insufficient number of plasma cells, attempts may be made to achieve results for the missing probe on a subsequent sample (if sufficient plasma cells are identified).

 

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 Special Container
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.

 

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

Cautions

This test is not approved by the US Food and Drug Administration, and it is best used as an adjunct to clinical and pathologic information.

Supportive Data

Each probe was independently tested and verified on unstimulated peripheral blood and bone marrow specimens. Normal cutoffs were calculated based on the results of 25 normal specimens. Each probe set was evaluated to confirm the probe set detected the abnormality it was designed to detect.

Method Description

This test is performed using commercially available and laboratory-developed probes. Deletion or monosomy of chromosome 17, copy number gain of 1q, and additional copies of chromosomes 3, 7, 9, and 15 are detected using enumeration strategy probes. Translocations involving IGH are detected using dual-color, dual-fusion fluorescence in situ hybridization strategy probes. Rearrangement of IGH and MYC are detected using a break-apart strategy probe. For each probe set, 50 plasma cells (if possible) are scored and the result for each probe is reported. (Unpublished Mayo method)

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