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Test Code CXCFX MYD88 Reflex to CXCR4 Mutation Detection, Varies


Specimen Required


No additional specimen is required.

Only orderable as a reflex. For more information see LPLFX / Lymphoplasmacytic Lymphoma/Waldenstrom Macroglobulinemia, MYD88 L265P with Reflex to CXCR4, Varies.

 


Useful For

The prognosis and clinical management of lymphoplasmacytic lymphoma/Waldenstrom macroglobulinemia

Method Name

Only orderable as a reflex. For more information see LPLFX / Lymphoplasmacytic Lymphoma/Waldenstrom Macroglobulinemia, MYD88 L265P with Reflex to CXCR4, Varies.

 

Bridged Nucleic Acids (BNA) Clamp Sanger Sequencing/Routine Sanger Sequencing

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

Reporting Name

CXCR4, Gene Mutation, Reflex

Specimen Type

Varies

Specimen Minimum Volume

Blood, Bone Marrow: 1 mL
Extracted DNA: 20 mcL with a concentration of at least 10 nanograms per mcL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies 10 days

Reference Values

Only orderable as a reflex. For more information see LPLFX / Lymphoplasmacytic Lymphoma/Waldenstrom Macroglobulinemia, MYD88 L265P with Reflex to CXCR4, Varies.

 

An interpretive report will be provided

Interpretation

Mutation present or not detected; an interpretive report will be issued under LPLFX / Lymphoplasmacytic Lymphoma/Waldenstrom Macroglobulinemia, MYD88 L265P with Reflex to CXCR4, Varies.

Clinical Reference

1. 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

2. Landgren O, Tageja N: MYD88 and beyond: novel opportunities for diagnosis, prognosis and treatment in Waldenstrom's Macroglobulinemia. Leukemia. 2014 Sep;28(9):1799-1803. doi: 10.1038/leu.2014.88

3. 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

4. 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

5. 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

6. Treon SP, Cao Y, Xu L, Yang G, Liu X, Hunter ZR: 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

7. 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

8. Xu L, Hunter ZR, Tsakmaklis N, et al: Clonal architecture of CXCR4 WHIM-like mutations in Waldenstrom Macroglobulinaemia. Br J Haematol. 2016 Mar;172(5):735-744. doi: 10.1111/bjh.13897

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

81479-Unlisted molecular pathology procedure