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MYD88 p.L265P Mutation Analysis by Next Generation Sequencing

Test Code

M MYD88

Test Synonyms

MYD88 p.L265P

Associations

Lymphoplasmacytic lymphoma (LPL); Waldenström’s macroglobulinemia, chronic lymphocytic leukemia (CLL) ; diffuse large B-cell lymphoma (DLBCL)

Methodology

Next Generation Sequencing of MYD88 gene; TruSight Myeloid (TSM) assay (Illumina, 2016)

Turnaround Time

7-10 days

Specimen Requirements

5.0 mL (min. 1.0 mL) whole blood EDTA preferred, heparin whole blood accepted
3.0 mL (min. 1.0 mL) bone marrow aspirate EDTA preferred, heparin accepted

Specimen Stability
EDTA whole blood or bone marrow stable at room temperature (18-25°C)
Storage & Handling

Whole blood and bone marrow ship in a Styrofoam container with a cool pack. (Do not allow cool/refrigerated pack to directly contact sample

Causes for Rejection

Insufficient DNA content; Insufficient specimen volume; Specimen at incorrect temperature; Incorrect anticoagulant

Reference Range

Please provide

Description

MYD88 L265P mutations are present in the majority of LPL cases include Waldenström’s macroglobulinemia,
Mutations are also detected in a low percentage of chronic lymphocytic leukemia (CLL) and diffuse large B-cell lymphoma (DLBCL) cases.

Detection of MYD88 L265P mutation can aid in differentiation between LPL and other low - grade B-cell lymphoproliferative disorders which may appear similar to LPL. Mutation may be crucial for treatment decisions. LPL may be treated with chemotherapy or rituximab.

References
  1. Swerdlow et al. (2016).  The 2016 revision of the World Health Organization classification of lymphoid neoplasms.  Blood. 2016 May 19;127(20):2375-90
  2. Insuasti-Beltran G, Gale JM, Wilson CS, Foucar K, Czuchlewski DR.  (2015) Significance of MYD88 L265P Mutation Status in the Subclassification of Low-Grade B-Cell Lymphoma/Leukemia.  Arch Pathol Lab Med. 2015 Aug;139(8):1035-41
  3. Landgren O, Tageja N.2014. MYD88 and beyond: novel opportunities for diagnosis, prognosis and treatment in Waldenström’s Macroglobulinemia.Leukemia. Sep;28(9):1799-803
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