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Test ID: MFCF Myeloma, FISH, Fixed Cells

Useful For

Aiding in the diagnosis of new cases of multiple myeloma or other plasma cell proliferative disorders

 

Identifying prognostic markers based on the abnormalities found

 

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

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 is designed for diagnostic bone marrow specimens from patients with multiple myeloma or other plasma cell proliferative disorders. Best results are obtained when the bone marrow demonstrates at least 20% involvement by a plasma cell proliferative disorder.

 

This test includes a charge for application of the first probe set (2 fluorescence in situ hybridization: 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.

 

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

17p-, TP53/D17Z1

1q gain, TP73/1q22

14q32 rearrangement, IGH

 

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), CCND1/IGH

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

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

t(14;20)(q32;q12) IGH/MAFB 

 

For follow-up samples, only TP73/1q22, TP53/D17Z1 and MYC probes will be tested. 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.

Method Name

Fluorescence In Situ Hybridization (FISH)

Reporting Name

Myeloma, FISH, Fixed Cells

Specimen Type

Fixed Cell Pellet Bone Marrow


Advisory Information


-For the most complete genetic evaluation on fresh bone marrow specimens, order MPCDS / mSMART, Plasma Cell Proliferative Disorder, FISH, Bone Marrow.

-For evaluation of high risk abnormalities plus CCND1/IGH fusion on fresh bone marrow specimens, order PCPDS / Plasma Cell Proliferative Disorder, FISH, Bone Marrow.

-For paraffin-embedded tissue specimens, order PLASF / Plasma Cell Proliferative Disorder, FISH, Tissue.

-Testing will be changed to the appropriate test if this test is ordered on paraffin or a fresh bone marrow specimen.



Shipping Instructions


Advise Express Mail or equivalent if not on courier service.



Necessary Information


Provide a reason for testing 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.

 

A pathology and/or flow cytometry report may be requested by the laboratory if a reason for referral is not provided with the specimen.



Specimen Required


Container/Tube: Sterile container

Specimen Volume: 1 fixed cell pellet

Collection Instructions: Place specimen in a sterile container with a 3:1 methanol:glacial acetic acid (or similar) fixative.


Specimen Stability Information

Specimen Type Temperature Time Special Container
Fixed Cell Pellet Bone Marrow Ambient (preferred)
  Refrigerated 

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 (PCPD): 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 50 years of age, 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.

Clinical Reference

1. Swerdlow S, Campo E, Harris NL, et al: WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues. IARC Press; 2017

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

3. Rajkumar SV, Landgren O, Mateos MV: Smoldering multiple myeloma. Blood. 2015 May 14;125(20):3069-3075. doi: 10.1182/blood-2014-09-568899

4. Muchtar E, Dispenzieri A, Kumar S, et al: Interphase fluorescence in situ hybridization in untreated AL amyloidosis has an independent prognostic impact by abnormality type and treatment category. Leukemia. 2017 Jul;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 Aug;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 Jul 28;128(4):594-602. doi: 10.1182/blood-2015-10-7

7. Treatment guidelines: multiple myeloma. mSMART 3.0. Accessed 01/16/2020. Available at www.msmart.org/mm-treatment-guidelines

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)

88271-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
MFCF Myeloma, FISH, Fixed Cells In Process

 

Result ID Test Result Name Result LOINC Value
51817 Result Summary 50397-9
51819 Interpretation 69965-2
51818 Result Table 93356-4
54533 Result 62356-1
CG661 Reason for Referral 42349-1
51820 Specimen 31208-2
51821 Source 31208-2
51822 Method 49549-9
53431 Additional Information 48767-8
55277 Disclaimer 62364-5
51823 Released By 18771-6

Forms

If not ordering electronically, complete, print, and send a Hematopathology/Cytogenetics Test Request (T726) with the specimen.

Mayo Clinic Laboratories | Hematology Catalog Additional Information:

mml-myeloma-amyloidosis-dysprotenemia