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EPIC ORDER CODE LAB4987 MYD88, L265P, Somatic Gene Mutation, DNA Allele-Specific PCR, Varies

Additional Codes

SQ: BCGRM

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

Reporting Name

MYD88 L265P Gene Mutation Analysis

Specimen Type

Varies


Shipping 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.

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 days

Specimen Retention Time

Blood, bone marrow: 2 weeks; Extracted DNA: 3 months

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

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.