Supporting the diagnosis of plasmacytoma or myeloma when coordinated with a surgical pathology consultation
Test Id | Reporting Name | Available Separately | Always Performed |
---|---|---|---|
_I099 | Interphases, 25-99 | No, (Bill Only) | No |
_I300 | Interphases, >=100 | No, (Bill Only) | No |
_IL25 | Interphases, <25 | 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 |
_PBCT | Probe, +2 | No, (Bill Only) | No |
This test does not include a pathology consult. If a pathology consult 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.
A minimum of 35% plasma cell involvement is required for a successful paraffin plasma cell FISH evaluation. If a bone marrow clot specimen is submitted with less than 35% plasma cell involvement, the PLASF / Plasma Cell Proliferative Disorder, FISH, Tissue will be canceled.
For decalcified (bone) specimens, one FISH probe (break apart IGH) will be attempted. If this FISH probe is unsuccessful, testing will be canceled due to lack of hybridization as a result of the decalcification process. If the IGH FISH probe is successful, additional FISH probes will be evaluated as listed below.
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)(q13;q32), CCND1/IGH
t(14;16)(q32;q23) IGH/MAF
t(4;14)(p16.3;q32) FGFR3/IGH
t(14;20)(q32;q12) IGH/MAFB
This test is not designed for follow-up testing.
Fluorescence In Situ Hybridization (FISH)
17p- (17p deletion) or TP53
IGH (14q32) rearrangement
Monoclonal Gammopathy of Unknown Significance (MGUS)
Multiple Myeloma
Plasma Cell Leukemia
t(4;14) - FGFR3/IGH
t(11;14) - CCND1/IGH
t(14;16) - IGH/MAF
t(14;20) - IGH/MAFB
+1q or 1q22
This test does not include a pathology consult. If a pathology consult 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.
A minimum of 35% plasma cell involvement is required for a successful paraffin plasma cell FISH evaluation. If a bone marrow clot specimen is submitted with less than 35% plasma cell involvement, the PLASF / Plasma Cell Proliferative Disorder, FISH, Tissue will be canceled.
For decalcified (bone) specimens, one FISH probe (break apart IGH) will be attempted. If this FISH probe is unsuccessful, testing will be canceled due to lack of hybridization as a result of the decalcification process. If the IGH FISH probe is successful, additional FISH probes will be evaluated as listed below.
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)(q13;q32), CCND1/IGH
t(14;16)(q32;q23) IGH/MAF
t(4;14)(p16.3;q32) FGFR3/IGH
t(14;20)(q32;q12) IGH/MAFB
This test is not designed for follow-up testing.
Tissue
-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, High Risk with Reflex Probes, Diagnostic FISH Evaluation, Bone Marrow.
-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 specimen types.
Advise Express Mail or equivalent if not on courier service.
A reason for testing and pathology report are required for testing to be performed. Send information with specimen. Acceptable pathology reports include working drafts, preliminary pathology, or surgical pathology reports.
Question ID | Description | Answers |
---|---|---|
CG753 | Reason for Referral |
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: For each probe set ordered, 2 consecutive, unstained, 5 micron-thick sections placed on positively charged slides, and 1 hematoxylin and eosin-stained slide.
If not ordering electronically, complete, print, and send a Hematopathology/Cytogenetics Test Request (T726) with the specimen.
See Specimen Required
Specimen Type | Temperature | Time | Special Container |
---|---|---|---|
Tissue | Ambient (preferred) | ||
Refrigerated |
Supporting the diagnosis of plasmacytoma or myeloma when coordinated with a surgical pathology consultation
This test does not include a pathology consult. If a pathology consult 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.
A minimum of 35% plasma cell involvement is required for a successful paraffin plasma cell FISH evaluation. If a bone marrow clot specimen is submitted with less than 35% plasma cell involvement, the PLASF / Plasma Cell Proliferative Disorder, FISH, Tissue will be canceled.
For decalcified (bone) specimens, one FISH probe (break apart IGH) will be attempted. If this FISH probe is unsuccessful, testing will be canceled due to lack of hybridization as a result of the decalcification process. If the IGH FISH probe is successful, additional FISH probes will be evaluated as listed below.
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)(q13;q32), CCND1/IGH
t(14;16)(q32;q23) IGH/MAF
t(4;14)(p16.3;q32) FGFR3/IGH
t(14;20)(q32;q12) IGH/MAFB
This test is not designed for follow-up testing.
A plasmacytoma is a localized proliferation of plasma cells that are cytologically and immunophenotypically identical to the plasma cell clones seen in myeloma. There are 2 primary types of plasmacytomas, solitary plasmacytoma of bone (SPB) and extramedullary plasmacytoma (EP).
SPBs are a localized bone tumor comprised of plasma cells and account for about 5% of all plasma cell neoplasms. Common sites for SPBs are the vertebrae, ribs, skull, pelvis, femur, clavicle, and scapula. Patients often present with pathological fracture or bone pain near the lesion. Treatment is typically radiation therapy; at 10 years, 35% of patients appear to be cured, 55% develop myeloma, and 10% have local recurrence.
EPs are tumors of plasma cells that form in areas away from the bone and account for 3% to 5% of all plasma cell neoplasms. Approximately 80% of EPs occur in the upper respiratory tract. Less common locations include the gastrointestinal tract, bladder, testis, central nervous system, and skin. Treatment consists of radiation therapy. Regional recurrence develops in about 25% of patients, but development of myeloma is less frequent, occurring in only about 15% of patients.
Genetics of both types of plasmacytomas, while not extensively studied, appear to be the same as plasma cell myeloma.
Paraffin plasma cell fluorescence in situ hybridization (FISH) evaluation of bone marrow clot specimens is also important when a fresh bone marrow specimen is not available or is unsuccessful in the initial/diagnostic evaluation to document the genetic abnormalities associated with a patient's plasma cell clone.
An interpretive report will be provided.
A neoplastic clone is detected when the percent of cells with an abnormality exceeds the normal reference range for a given probe set.
A positive result supports the diagnosis of a plasmacytoma or myeloma.
A negative result does not exclude the diagnosis of a plasmacytoma or myeloma.
This test is not approved by the US Food and Drug Administration and is best used as an adjunct to existing clinical and pathologic information.
Fixatives other than formalin (eg, Prefer, Bouin) may not be successful for fluorescence in situ hybridization (FISH) assays. Although FISH testing will not be rejected due to non-formalin fixation, results may be compromised.
Paraffin-embedded tissues that have been decalcified may be unsuccessful for FISH analysis. FISH studies will usually be attempted. The pathologist reviewing the hematoxylin and eosin-stained slide may find it necessary to cancel testing.
Each probe was independently tested and verified on paraffin-embedded tissue specimens. Normal cutoffs were calculated based on the results of at least 25 normal specimens. For each probe set a series of chromosomally abnormal specimens were evaluated to confirm each probe set detected the anomaly it was designed to detect.
1. Campo E, Harris NL, Jaffe ES, Pileri SA, Thiele J, eds: WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues. IARC Press; 2017
2. Nolan KD, Mone MC, Nelson EW: Plasma cell neoplasms: review of disease progression and report of a new variant. Surg Oncol. 2005 Aug;14(2):85-90
3. Dingli D, Kyle RA, Rajkumar SV, et al: Immunoglobulin free light chains and solitary plasmacytoma of bone. Blood. 2006;108(6):1979-1983
This test is performed using both 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 with FGFR3, CCND1, MAF, and MAFB are detected using dual-color, dual-fusion fluorescence in situ hybridization (D-FISH) strategy probes. Rearrangement of IGH is detected using a break-apart strategy (BAP) probe. Formalin-fixed, paraffin-embedded tissues are cut at 5 microns and mounted on positively charged glass slides. The selection of tissue and the identification of target areas on the hematoxylin and eosin (H and E)-stained slide are performed by a pathologist. Using the H and E-stained slide as a reference, target areas are etched with a diamond-tipped etcher on the back of the unstained slide to be assayed. Each probe set is hybridized to the appropriate target areas and 2 technologists analyze 50 interphase nuclei each (100 total) with the results expressed as the percent abnormal nuclei.(Unpublished Mayo method)
Monday through Friday
Specimens are processed Monday through Sunday.
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 US Food and Drug Administration.
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)
Test Id | Test Order Name | Order LOINC Value |
---|---|---|
PLASF | Plasma Cell Prolif, FISH, Ts | In Process |
Result Id | Test Result Name |
Result LOINC Value
Applies only to results expressed in units of measure originally reported by the performing laboratory. These values do not apply to results that are converted to other units of measure.
|
---|---|---|
52219 | Result Summary | 50397-9 |
52221 | Interpretation | 69965-2 |
52220 | Result Table | 93356-4 |
54593 | Result | 62356-1 |
CG753 | Reason for Referral | 42349-1 |
52222 | Specimen | 31208-2 |
52223 | Source | 31208-2 |
52224 | Tissue ID | 80398-1 |
52225 | Method | 85069-3 |
55033 | Additional Information | 48767-8 |
52226 | Released By | 18771-6 |
53823 | Disclaimer | 62364-5 |