DISCOVERY OF A SOMATIC MUTATION IN MYD88 GENE IN LYMPHOPLASMACYTIC LYMPHOMA

摘要

Diagnostic assays for facilitating the diagnosis of lymphoplasmacytic lymphoma (LPL) are provided. The method comprises assessing a biological sample of the subject for the presence of a mutation at position 38182641 in chromosome 3p22.2, wherein presence of the mutation is indicative that the subject has LPL. Also, provided are targeted therapies, methods for monitoring the progression or recurrence of LPL, and a sensitive and inexpensive real-time allele specific polymerase chain reaction assay for reliable and quantitative assessments of the mutation.

主权项

1. A method for facilitating the diagnosis of lymphoplasmacytic lymphoma in a subject, the method comprising:
selecting a subject on the basis that the subject presents one or more of the following clinical features: anemia, hyper-viscosity, neuropathy, coagulopathies, splenomegaly, hepatomegaly, adenopathy, and an IgM serum paraprotein, obtaining a biological sample of the subject, determining from the biological sample whether the subject has a mutation at position 38182641 in chromosome 3p22.2, wherein the presence of the mutation is indicative that the subject has lymphoplasmacytic lymphoma.