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Test Code LPLFX Lymphoplasmacytic Lymphoma/Waldenstrom Macroglobulinemia, MYD88 L265P with Reflex to CXCR4, Varies


Shipping Instructions


Whole blood or bone marrow specimens must arrive within 10 days of collection.



Necessary Information


The following information is required:

1. Pertinent clinical history

2. Clinical or morphologic suspicion

3. Date and time of collection

4. Specimen source



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 Information: 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

 

Specimen Type: Tissue

Slides: Unstained slides

Specimen Volume: 10 to20 slides

Additional Information: Tissue must demonstrate involvement by a hematologic neoplasm (eg, acute myelocytic leukemia), not solid tumors.

Specimen Stability Information: 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 Information: Ambient (preferred)/Refrigerated

 

Specimen Type: Extracted DNA

Container/Tube: 1.5- to 2-mL tube with indication of volume and concentration of the DNA

Specimen Volume: Entire specimen

Collection Instructions: Label specimen as extracted DNA and list the specimen source. Include indication of volume and concentration of the DNA.

Specimen Stability Information: Frozen (preferred)/Refrigerated/Ambient


Forms

1. Hematopathology Patient Information (T676)

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

Useful For

Establishing a diagnosis of lymphoplasmacytic lymphoma/Waldenstrom macroglobulinemia (LPL/WM)

 

Helping distinguish LPL/WM low-grade B-cell lymphoma from other subtypes

 

Aiding in the prognosis and clinical management of lymphoplasmacytic lymphoma/Waldenstrom macroglobulinemia

Reflex Tests

Test ID Reporting Name Available Separately Always Performed
CXCFX CXCR4, Gene Mutation, Reflex Yes, (order CXLPL), Bill Only No

Testing Algorithm

The algorithm starts with the sensitive MYD88 L265P testing by allele-specific polymerase chain reaction. If a MYD88 L265P variant is detected, additional CXCR4 testing will be performed. If a MYD88 L265P variant is not detected, the algorithm ends, and no further testing is necessary.

Method Name

Allele-Specific Polymerase Chain Reaction (AS-PCR)/Bridged Nucleic Acids (BNA) Clamp Sanger Sequencing/Routine Sanger Sequencing

(BNAClamp is utilized pursuant to a license agreement with BNA Inc.)

Reporting Name

Reflex Testing of MYD88 and CXCR4

Specimen Type

Varies

Specimen Minimum Volume

Whole blood, Bone marrow: 1 mL
Extracted DNA: 50 mcL with a concentration of at least 20 nanograms per mcL
Other specimen types: See Specimen Required

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies 10 days

Reference Values

MYD88 L265P: Mutation present or absent based on expected variant polymerase chain reaction product size for the MYD88 gene (NCBI accession NM_002468.4).

 

CXCR4: Mutation present or absent in the test region c. 898-1059 (amino acids 300-353) of the CXCR4 gene (NCBI NM_003467.2, GRCh37).

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 Aug 30;367(9):826-833. doi: 10.1056/NEJMoa1200710

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 Mar 28;121(13):2522-2528. doi: 10.1182/blood-2012-09-457101

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 Mar 14;121(11):2051-2058. doi: 10.1182/blood-2012-09-454355

4. Poulain S, Roumier C, Decambron A, et al: MYD88 L265P mutation in Waldenstrom macroglobulinemia. Blood. 2013 May 30;121(22):4504-4511. doi: 10.1182/blood-2012-06-436329

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 Jan;27(1):183-189. doi: 10.1038/leu.2012.257

6. Ondrejka SL, Lin JJ, Warden DW, et al: MYD88 L265P somatic mutation: its usefulness in the differential diagnosis of bone marrow involvement by B-cell lymphoproliferative disorders. Am J Clin Pathol. 2013 Sept;140(3):387-394. doi: 10.1309/AJCP10ZCLFZGYZIP

7. Hunter Z, Xu L, Yang G, et al: The genomic landscape of Waldenstrom macroglobulinemia is characterized by highly recurring MYD88 and WHIM-like CXCR4 mutations, and small somatic deletions associated with B-cell lymphomagenesis. Blood. 2014 Mar 13;123(11):1637-1646. doi: 10.1182/blood-2013-09-525808

9. Poulain S, Roumier C, Venet-Caillault A, et al: Genomic landscape of CXCR4 mutations in Waldenstrom macroglobulinemia. Clin Cancer Res. 2016 Mar 15;22(6):1480-1488. doi: 10.1158/1078-0432.CCR-15-0646

10. Roccaro A, Sacco A, Jimenez C, et al: C1013G/CXCR4 acts as a driver mutation of tumor progression and modulator of drug resistance in lymphoplasmacytic lymphoma. Blood. 2014 Jun 26;123(26):4120-4131. doi: 10.1182/blood-2014-03-564583

11. Schmidt J, Federmann B, Schindler N, et al: MYD88 L265P and CXCR4 mutations in lymphoplasmacytic lymphoma identify cases with high disease activity. Br J Haematol. 2015 Jun;169(6):795-803. doi: 10.1111/bjh.13361

12. Treon SP, Cao Y, Xu L, et al: Somatic mutations in MYD88 and CXCR4 are determinants of clinical presentation and overall survival in Waldenstrom macroglobulinemia. Blood. 2014 May 1;123(18):2791-2796. doi: 10.1182/blood-2014-01-550905

13. Treon SP, Tripsas CK, Meid K, et al. Ibrutinib in previously treated Waldenstrom's macroglobulinemia. N Engl J Med. 2015 Apr 9;372(15):1430-1440. doi: 10.1056/NEJMoa1501548

Day(s) Performed

Monday through Friday

Report Available

7 to 10 days

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
LPLFX Reflex Testing of MYD88 and CXCR4 82140-5

 

Result ID Test Result Name Result LOINC Value
MP042 Specimen Type 31208-2
601511 LPLFX Reflex Result 82140-5
601510 Final Diagnosis 50398-7