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HelpTest Code MYD88 MYD88, L265P, Somatic Gene Mutation, DNA Allele-Specific PCR, Varies
Useful For
Establishing the diagnosis of lymphoplasmacytic lymphoma/Waldenstrom macroglobulinemia
Helping to distinguish lymphoplasmacytic lymphoma/Waldenstrom macroglobulinemia (low-grade B-cell lymphoma) from other subtypes
Special Instructions
Reporting Name
MYD88 L265P Gene Mutation AnalysisSpecimen Type
VariesShipping Instructions
Whole blood or bone marrow specimens must arrive within 10 days of collection.
Necessary Information
Specimen Required
Submit only 1 of the following specimens:
Preferred:
Specimen Type: Bone marrow
Container/Tube:
Preferred: Lavender top (EDTA)
Acceptable: Yellow top (ACD)
Specimen Volume: 2 mL
Collection Instructions:
1. Invert several times to mix bone marrow.
2. Send bone marrow specimen in original tube. Do not aliquot.
3. Label specimen as bone marrow.
Specimen Stability: Ambient (preferred)/Refrigerated
Specimen Type: Paraffin-embedded tissue
Container/Tube: Paraffin block
Specimen Stability: Ambient
Specimen Type: Paraffin-embedded bone marrow aspirate clot
Container/Tube: Paraffin block
Specimen Stability: Ambient
Acceptable:
Specimen Type: Whole blood
Container/Tube:
Preferred: Lavender top (EDTA)
Acceptable: Yellow top (ACD)
Specimen Volume: 3 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send whole blood specimen in original tube. Do not aliquot.
3. Label specimen as blood.
Specimen Stability: Ambient (preferred)/Refrigerated
Specimen Type: Frozen tissue
Container/Tube: Plastic container
Specimen Volume: 100 mg
Collection Instructions: Freeze tissue within 1 hour of collection.
Specimen Stability: Frozen
Specimen Type: Unstained slides
Container/Tube: Unstained tissue slides
Specimen Volume: 10 to 20 Slides
Additional Information: Tissue must demonstrate involvement by a hematologic neoplasm (eg, acute myelocytic leukemia), not solid tumors.
Specimen Stability: Ambient
Specimen Type: Extracted DNA
Container/Tube: 1.5- to 2-mL tube
Specimen Volume: Entire specimen
Collection Instructions:
1. Label specimen as extracted DNA and source of specimen.
2. Indicate volume and concentration of the DNA on the label.
Specimen Stability: Frozen (preferred)/Refrigerated
Specimen Type: Methanol-acetic acid (MAA) fixed pellets
Container/Tube: Plastic container
Specimen Stability: Ambient (preferred)/Refrigerated
Specimen Minimum Volume
Whole blood, Bone marrow: 1 mL; Extracted DNA: 50 mcL at 20 ng/mcL; Other specimen types: See Specimen Required
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Varies | 10 days |
Reject Due To
| Gross hemolysis | Reject |
| Bone marrow core biopsies Paraffin shavings Moderately to severely clotted |
Reject |
Clinical Information
The single point alteration in MYD88, L265P, is present in 67% to 100% of patients with lymphoplasmacytic lymphoma, and these patients typically have clinical manifestations of Waldenstrom macroglobulinemia (often designated LPL/WM).
Reference Values
Variant present or absent based on expected alteration polymerase chain reaction product size. Concurrent amplification of wild type MYD88 fragment determined for sample amplification integrity. MYD88 gene (NCBI accession NM_002468.4)
Interpretation
Mutation present or not detected; an interpretive report will be issued.
Cautions
This MYD88 test is a targeted assay and will not detect any alteration at MYD88 codon 265 that does not result in the L>P (leucine to proline) amino acid change. It will also not detect additional MYD88 alterations, including insertion or deletion events.
The analytical sensitivity of the assay (1% MYD88 L265P in a wild-type background) can be affected by a variety of factors, including biologic availability (ie, tumor burden), fixation of paraffin-embedded specimens, or nonspecific polymerase chain reaction interferences.
Rare cases of lymphoplasmacytic lymphoma/Waldenstrom macroglobulinemia (LPL/WM) have been reported lacking the MYD88 L265P abnormality, so a negative result would not completely exclude this diagnosis but would make the possibility of LPL/WM more unlikely.
Clinical Reference
1. Treon SP, Xu L, Yang G, et al. MYD88 L265P somatic mutation in Waldenstrom's macroglobulinemia. N Engl J Med. 2012;367(9):826-833
2. Varettoni M, Arcaini L, Zibellini S, et al. Prevalence and clinical significance of the MYD88 (L265P) somatic mutation in Waldenstrom's macroglobulinemia and related lymphoid neoplasms. Blood. 2013;121(13):2522-2528
3. Xu L, Hunter ZR, Yang G, et al. MYD88 L265P in Waldenstrom macroglobulinemia, immunoglobulin M monoclonal gammopathy, and other B-cell lymphoproliferative disorders using conventional and quantitative allele-specific polymerase chain reaction. Blood. 2013;121(11);2051-2058
4. Poulain S, Roumier C, Decambron A, et al. MYD88 L265P mutation in Waldenstrom macroglobulinemia. Blood. 2013;121(22);4504-4511
5. Gachard N, Parrens M, Soubeyran I, et al. IGHV gene features and MYD88 L265P mutation separate the three marginal zone lymphoma entities and Waldenstrom macroglobulinemia/lymphoplasmacytic lymphomas. Leukemia. 2013;27(1):183-189. doi: 10.1038/leu.2012.257
6. Ondrejka SL, Lin JJ, Warden DW, Durkin L, Cook JR, Hsi ED. MYD88 L265P somatic mutation: its usefulness in the differential diagnosis of bone marrow involvement by B-cell lymphoproliferative disorders. Am J Clin Pathol. 2013;140(3):387-394
Method Description
Extracted DNA from the clinical specimen is subjected to a single-tube allele-specific polymerase chain reaction (PCR) using MYD88 exon 5 primers that simultaneously amplify both a wildtype sequence fragment and a fragment containing the specific nucleotide change resulting in L265P if present. PCR products are visualized by capillary electrophoresis, and the presence of altered and wildtype amplicons is determined according to the expected specific PCR product sizes.(Unpublished Mayo method)
Day(s) Performed
Monday through Friday
Report Available
5 to 8 daysSpecimen Retention Time
Blood, bone marrow: 2 weeks; Extracted DNA: 3 monthsPerforming 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
81305
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| MYD88 | MYD88 L265P Gene Mutation Analysis | 82140-5 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| MP021 | Specimen Type | 31208-2 |
| 36308 | Final Diagnosis | 82140-5 |
| 621251 | MYD88 Cancel | 77202-0 |
Method Name
Allele-Specific Polymerase Chain Reaction (PCR)
Forms
1. Hematopathology Patient Information (T676)
2. If not ordering electronically, complete, print, and send a Hematopathology/Cytogenetics Test Request (T726) with the specimen.