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Mayo Test ID PCPDS Plasma Cell Proliferative Disorder, High Risk with Reflex Probes, Diagnostic FISH Evaluation, Bone Marrow


Ordering Guidance


For a more complete genetic evaluation, order MPCDS / mSMART, Plasma Cell Proliferative Disorder, FISH, Bone Marrow.

 

For testing paraffin-embedded tissue samples from patients with a plasma cell disorder, order PLASF / Plasma Cell Proliferative Disorder, FISH, Tissue.

 

For fixed cell pellet specimens, order MFCDF / Myeloma, High Risk, with Reflex Probes, Diagnostic FISH Evaluation, Fixed Cell Pellet.

 

Testing will be changed to the appropriate test if this test is ordered on either of the previous specimens or if bone marrow specimens are received more than 96 hours from collection.



Shipping Instructions


1. Specimen should arrive within 96 hours of collection.

2. Advise Express Mail or equivalent if not on courier service.



Necessary Information


A reason for testing and a flow cytometry and/or a bone marrow pathology report should be submitted with each specimen. The laboratory will not reject testing if this information is not provided, but appropriate testing and interpretation may be compromised or delayed. If this information is not provided, an appropriate indication for testing may be entered by Mayo Clinic Laboratories.



Specimen Required


Container/Tube:

Preferred: Yellow top (ACD)

Acceptable: Green top (heparin) or lavender top (EDTA)

Specimen Volume: 4 mL

Collection Instructions:

1. Invert several times to mix bone marrow

2, Send bone marrow specimen in original tube. Do not aliquot.


Useful For

Aiding in the diagnosis of new cases of multiple myeloma or other plasma cell proliferative disorders using bone marrow specimens

 

Identifying prognostic markers based on the abnormalities found

 

This test should not be used to track the progression of disease.

Additional Tests

Test ID Reporting Name Available Separately Always Performed
CSPCF PCPDS Pre-Analysis Cell Sorting, BM No Yes

Testing Algorithm

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

 

When this test is ordered, pre-analysis cell sorting will be performed at an additional charge.

 

The fluorescence in situ hybridization (FISH) panel includes testing for the following abnormalities using the FISH probes listed:

17p-, TP53/D17Z1

1q gain, TP73/1q22

14q32 rearrangement, IGH 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

 

For follow-up samples, the following probes will be evaluated if sufficient plasma cells are identified:

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

17p-, TP53/D17Z1

1q gain, TP73/1q22

8q24.1 rearrangement, MYC break-apart

 

Initial screening will be performed to determine if sufficient plasma cells are present within the provided specimen. If the specimen is received greater than 96 hours from collection, this test will be canceled and MFCDF / Myeloma, High Risk with Reflex Probes, Diagnostic FISH Evaluation, Fixed Cell Pellet will be added as the more appropriate test.

 

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

PCPDS, PCPDB: Fluorescence In Situ Hybridization (FISH)

CSPCF: Flow Cytometric Cell Selection

Reporting Name

Plasma Cell Prolif, High Risk, FISH

Specimen Type

Bone Marrow

Specimen Minimum Volume

2 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Bone Marrow Ambient (preferred) 4 days
  Refrigerated  4 days

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. Multiple myeloma patients with more aggressive disease experience suboptimal responses to some therapeutic approaches; therefore, identifying these patients is critically important for selecting appropriate treatment options.

Reference Values

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 existing clinical and pathologic information.

Clinical Reference

1. Swerdlow SH, Campo E, Harris NL, et al, eds: WHO Classification of Tumour of Haematopoietic and Lymphoid Tissues. 4th ed. IARC Press; 2017. WHO Classification of Tumours, Vol 2

2. Kumar SK, Rajkumar SV. The multiple myelomas-current concepts in cytogenetic classification and therapy. Nat Rev Clin Oncol. 2018l;15(7):409-421. doi:10.1038/s41571-018-0018-y

3. Rajkumar SV, Landgren O, Mateos MV: Smoldering multiple myeloma. Blood. 2015;125(20):3069-3075. doi:10.1182/blood-2014-09-568899

4. Muchtar E, Dispenzieri A, Kumar SK, et al. Interphase fluorescence in situ hybridization in untreated AL amyloidosis has an independent prognostic impact by abnormality type and treatment category. Leukemia. 2017;31(7);1562-1569. doi:10.1038/leu.2016.369

5. Lakshman A, Paul S, Rajkumar SV, et al. Prognostic significance of interphase FISH in monoclonal gammopathy of undetermined significance. Leukemia. 2018;32(8);1811-1815. doi:10.1038/s41375-018-0030-3

6. Bochtler T, Hegenbart U, Kunz C, et al. Prognostic impact of cytogenetic aberrations in AL amyloidosis patients after high-dose melphalan: a long-term follow-up study. Blood. 2016 28;128(4):594-602. doi:10.1182/blood-2015-10-676361

7. Treatment guidelines: multiple myeloma. mSMART 3.0. Accessed February 20, 2024. Available at www.msmart.org/mm-treatment-guidelines

Method Description

This test is performed using commercially available and laboratory-developed probes. Deletion or monosomy of chromosome 17 and copy number gain of 1q 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

4 weeks

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
PCPDS Plasma Cell Prolif, High Risk, FISH 98014-4

 

Result ID Test Result Name Result LOINC Value
606080 Result Summary 62357-9
606081 Interpretation 69965-2
606082 Result Table 93356-4
606083 Result 62356-1
GC054 Reason for Referral 42349-1
606084 Specimen 31208-2
606085 Source 39111-0
606086 Method 85069-3
606087 Additional Information 48767-8
606088 Disclaimer 62364-5
606089 Released By 18771-6

Reflex Tests

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